Datasets:

bolinas-dna
/

evals_mendelian_traits_harness_255

chrom stringclasses 12 values	pos int64 17.1k 249M	ref stringclasses 4 values	alt stringclasses 4 values	target bool 2 classes	subset stringclasses 9 values	match_group int64 0 2.56k	clinvar_id float64 72 4.09M ⌀	trait stringlengths 3 188 ⌀	source stringclasses 3 values	AF float64 0 1	consequence stringclasses 14 values	consequence_cre stringclasses 29 values	AC float64 27 152k ⌀	AN float64 26.1k 152k ⌀	exon_closest_pc_gene_id stringlengths 15 15	distance_exon_pc int64 0 373k	exon_closest_nc_gene_id stringlengths 15 15	distance_exon_nc int64 0 159k	distance_exon int64 0 24.5k	exon_closest_gene_id stringlengths 15 15	consequence_final stringclasses 19 values	tss_closest_pc_gene_id stringlengths 15 15	distance_tss_pc int64 0 376k	tss_closest_nc_gene_id stringlengths 15 15	distance_tss_nc int64 0 226k	distance_tss int64 0 126k	tss_closest_gene_id stringlengths 15 15	consequence_group stringclasses 9 values	distance_tss_pc_bin stringclasses 4 values	distance_exon_pc_bin stringclasses 12 values	context stringlengths 127 127	ref_completion stringlengths 128 128	alt_completion stringlengths 128 128	strand stringclasses 2 values
1	948,245	A	G	false	splicing	1,656	null	null	null	0.999921	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	152,368	152,380	ENSG00000188976	12	ENSG00000188976	12	12	ENSG00000188976	splice_polypyrimidine_tract_variant	ENSG00000187634	8,969	ENSG00000188976	1,184	1,184	ENSG00000188976	splicing	NA	splicing:b1	GCAGGACACACACCTGCAGGACCACAGGCAGCACCAGCTCCGGGAAGCCGATGCAGTGTGCCTGGCTGTGCAGGTACTCCAGGGTGAGGTCGTACAGCTGCTCCACCAGGCCGTCCTGAAGAGCAGG	AGAGAGGGCCGAGTGCATCAGGGAGAGGCTGGGGCTGGGCACTCAGGCCCCTTCCCCTCAGGCTGTCAGGGCAGCGCCATCTCCAGGGCACGGACTGCAAGGAAGGGGCTCCTGGGCCCCAGCCCTGG	GGAGAGGGCCGAGTGCATCAGGGAGAGGCTGGGGCTGGGCACTCAGGCCCCTTCCCCTCAGGCTGTCAGGGCAGCGCCATCTCCAGGGCACGGACTGCAAGGAAGGGGCTCCTGGGCCCCAGCCCTGG	+
1	948,245	A	G	false	splicing	1,656	null	null	null	0.999921	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	152,368	152,380	ENSG00000188976	12	ENSG00000188976	12	12	ENSG00000188976	splice_polypyrimidine_tract_variant	ENSG00000187634	8,969	ENSG00000188976	1,184	1,184	ENSG00000188976	splicing	NA	splicing:b1	CCAGGGCTGGGGCCCAGGAGCCCCTTCCTTGCAGTCCGTGCCCTGGAGATGGCGCTGCCCTGACAGCCTGAGGGGAAGGGGCCTGAGTGCCCAGCCCCAGCCTCTCCCTGATGCACTCGGCCCTCTC	TCCTGCTCTTCAGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGGTGTGTGTCCTGC	CCCTGCTCTTCAGGACGGCCTGGTGGAGCAGCTGTACGACCTCACCCTGGAGTACCTGCACAGCCAGGCACACTGCATCGGCTTCCCGGAGCTGGTGCTGCCTGTGGTCCTGCAGGTGTGTGTCCTGC	-
1	953,778	G	C	false	splicing	1,664	null	null	null	0.911333	splice_donor_region_variant	splice_donor_region_variant	138,446	151,916	ENSG00000188976	3	ENSG00000188976	3	3	ENSG00000188976	splice_donor_region_variant	ENSG00000188976	5,477	ENSG00000188976	4,679	4,679	ENSG00000188976	splicing	NA	splicing:b0	CCTCTCTAGCCAAGCGGAGCCAGTGGAGTGTGGGCACCACCTGTGCCCTGGCCAGGAGTGGGATGTGGTGGGGGTAGCCGTGTGGCCCCCCGACCCCATGACAGACACAGGGAGGGGACTGGGCCAC	GAACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAG	CAACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAG	+
1	953,778	G	C	false	splicing	1,664	null	null	null	0.911333	splice_donor_region_variant	splice_donor_region_variant	138,446	151,916	ENSG00000188976	3	ENSG00000188976	3	3	ENSG00000188976	splice_donor_region_variant	ENSG00000188976	5,477	ENSG00000188976	4,679	4,679	ENSG00000188976	splicing	NA	splicing:b0	CTCCTGCCCCCAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGGTT	CGTGGCCCAGTCCCCTCCCTGTGTCTGTCATGGGGTCGGGGGGCCACACGGCTACCCCCACCACATCCCACTCCTGGCCAGGGCACAGGTGGTGCCCACACTCCACTGGCTCCGCTTGGCTAGAGAGG	GGTGGCCCAGTCCCCTCCCTGTGTCTGTCATGGGGTCGGGGGGCCACACGGCTACCCCCACCACATCCCACTCCTGGCCAGGGCACAGGTGGTGCCCACACTCCACTGGCTCCGCTTGGCTAGAGAGG	-
1	953,779	A	C	false	splicing	1,664	null	null	null	0.911311	splice_donor_region_variant	splice_donor_region_variant	138,450	151,924	ENSG00000188976	2	ENSG00000188976	2	2	ENSG00000188976	splice_donor_region_variant	ENSG00000188976	5,476	ENSG00000188976	4,678	4,678	ENSG00000188976	splicing	NA	splicing:b0	CTCTCTAGCCAAGCGGAGCCAGTGGAGTGTGGGCACCACCTGTGCCCTGGCCAGGAGTGGGATGTGGTGGGGGTAGCCGTGTGGCCCCCCGACCCCATGACAGACACAGGGAGGGGACTGGGCCACG	AACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAGG	CACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAGG	+
1	953,779	A	C	false	splicing	1,664	null	null	null	0.911311	splice_donor_region_variant	splice_donor_region_variant	138,450	151,924	ENSG00000188976	2	ENSG00000188976	2	2	ENSG00000188976	splice_donor_region_variant	ENSG00000188976	5,476	ENSG00000188976	4,678	4,678	ENSG00000188976	splicing	NA	splicing:b0	CCTCCTGCCCCCAGCTGGTGTCCTGTCTGTCGGAGACGACGGTGTTGGCGGCCGTGCTGCGGCACATCAGCGTGCTGGTGCCCTGCTTCCTGACCTTCCCCAAGCAGTGCCGCATGCTGCTCAAGGT	TCGTGGCCCAGTCCCCTCCCTGTGTCTGTCATGGGGTCGGGGGGCCACACGGCTACCCCCACCACATCCCACTCCTGGCCAGGGCACAGGTGGTGCCCACACTCCACTGGCTCCGCTTGGCTAGAGAG	GCGTGGCCCAGTCCCCTCCCTGTGTCTGTCATGGGGTCGGGGGGCCACACGGCTACCCCCACCACATCCCACTCCTGGCCAGGGCACAGGTGGTGCCCACACTCCACTGGCTCCGCTTGGCTAGAGAG	-
1	961,629	A	G	false	missense_variant	597	null	null	null	0.00132	missense_variant	missense_variant	201	152,316	ENSG00000187961	0	ENSG00000187961	0	0	ENSG00000187961	missense_variant	ENSG00000187961	1,044	ENSG00000187961	179	179	ENSG00000187961	missense_variant	NA	NA	ACAAAGTGGTGCTGGCCTCCTGCAGCCCCTACTTCCACGCCATGTTCACAAGCAAGTACCCGCCTGGGCGGCGCTGGGGGCTCCGTGGGTCCCTCGGGTCAGCTCGTGTAACCCGCTGTCCCCGCAG	ATGAGATGAGCGAGAGCCGCCAGACCCACGTGACGCTGCACGACATCGACCCTCAGGCCTTGGACCAGCTGGTGCAGTTTGCCTACACGGCTGAGATTGTGGTGGGCGAGGGCAATGTGCAGGTGAGG	GTGAGATGAGCGAGAGCCGCCAGACCCACGTGACGCTGCACGACATCGACCCTCAGGCCTTGGACCAGCTGGTGCAGTTTGCCTACACGGCTGAGATTGTGGTGGGCGAGGGCAATGTGCAGGTGAGG	+
1	961,629	A	G	false	missense_variant	597	null	null	null	0.00132	missense_variant	missense_variant	201	152,316	ENSG00000187961	0	ENSG00000187961	0	0	ENSG00000187961	missense_variant	ENSG00000187961	1,044	ENSG00000187961	179	179	ENSG00000187961	missense_variant	NA	NA	CCTCACCTGCACATTGCCCTCGCCCACCACAATCTCAGCCGTGTAGGCAAACTGCACCAGCTGGTCCAAGGCCTGAGGGTCGATGTCGTGCAGCGTCACGTGGGTCTGGCGGCTCTCGCTCATCTCA	TCTGCGGGGACAGCGGGTTACACGAGCTGACCCGAGGGACCCACGGAGCCCCCAGCGCCGCCCAGGCGGGTACTTGCTTGTGAACATGGCGTGGAAGTAGGGGCTGCAGGAGGCCAGCACCACTTTGT	CCTGCGGGGACAGCGGGTTACACGAGCTGACCCGAGGGACCCACGGAGCCCCCAGCGCCGCCCAGGCGGGTACTTGCTTGTGAACATGGCGTGGAAGTAGGGGCTGCAGGAGGCCAGCACCACTTTGT	-
1	961,753	G	A	false	splicing	1,662	null	null	null	0.002219	splice_donor_region_variant	splice_donor_region_variant	338	152,288	ENSG00000187961	2	ENSG00000187961	2	2	ENSG00000187961	splice_donor_region_variant	ENSG00000187961	1,168	ENSG00000187961	303	303	ENSG00000187961	splicing	NA	splicing:b0	CAGATGAGATGAGCGAGAGCCGCCAGACCCACGTGACGCTGCACGACATCGACCCTCAGGCCTTGGACCAGCTGGTGCAGTTTGCCTACACGGCTGAGATTGTGGTGGGCGAGGGCAATGTGCAGGT	GAGGGCTCCCTCACCCGGATCCCGGTGTCCCCCGACCCTGTGCCTCCCTCACCTGCCTCTCGGTGCCCCGTAGACTCTGCTCCCAGCCGCCAGTCTCCTGCAGCTGAATGGCGTCCGAGACGCTTGCT	AAGGGCTCCCTCACCCGGATCCCGGTGTCCCCCGACCCTGTGCCTCCCTCACCTGCCTCTCGGTGCCCCGTAGACTCTGCTCCCAGCCGCCAGTCTCCTGCAGCTGAATGGCGTCCGAGACGCTTGCT	+
1	961,753	G	A	false	splicing	1,662	null	null	null	0.002219	splice_donor_region_variant	splice_donor_region_variant	338	152,288	ENSG00000187961	2	ENSG00000187961	2	2	ENSG00000187961	splice_donor_region_variant	ENSG00000187961	1,168	ENSG00000187961	303	303	ENSG00000187961	splicing	NA	splicing:b0	AGCAAGCGTCTCGGACGCCATTCAGCTGCAGGAGACTGGCGGCTGGGAGCAGAGTCTACGGGGCACCGAGAGGCAGGTGAGGGAGGCACAGGGTCGGGGGACACCGGGATCCGGGTGAGGGAGCCCT	CACCTGCACATTGCCCTCGCCCACCACAATCTCAGCCGTGTAGGCAAACTGCACCAGCTGGTCCAAGGCCTGAGGGTCGATGTCGTGCAGCGTCACGTGGGTCTGGCGGCTCTCGCTCATCTCATCTG	TACCTGCACATTGCCCTCGCCCACCACAATCTCAGCCGTGTAGGCAAACTGCACCAGCTGGTCCAAGGCCTGAGGGTCGATGTCGTGCAGCGTCACGTGGGTCTGGCGGCTCTCGCTCATCTCATCTG	-
1	962,350	C	T	false	splicing	1,674	null	null	null	0.06915	splice_region_variant	splice_region_variant	10,527	152,234	ENSG00000187961	4	ENSG00000187961	0	0	ENSG00000187961	splice_region_variant	ENSG00000187961	1,765	ENSG00000187961	376	376	ENSG00000187961	splicing	NA	splicing:b0	TGACTCTGCTCGGCCCCTCCCAGTATGAACACTCAGCCCCCACCTGCTAACCCTCCCTCCTAGGCATCTTCAGGGCTCCCTGGGTCCACAGGACCCTCCCCAGATCTCAGGTCTGAGGACCCCCACT	CCCAGGTTCTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAGG	TCCAGGTTCTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAGG	+
1	962,350	C	T	false	splicing	1,674	null	null	null	0.06915	splice_region_variant	splice_region_variant	10,527	152,234	ENSG00000187961	4	ENSG00000187961	0	0	ENSG00000187961	splice_region_variant	ENSG00000187961	1,765	ENSG00000187961	376	376	ENSG00000187961	splicing	NA	splicing:b0	CCTCACCCGTGGGACATGCTGCCTGCGGGCGTCCACGTCGTGTTTCACCCAGCTCAGGACGGCTCGGTAGACCTCCTCCTCTGAAGGCACGTTCAGGCTGTCGCTAGAGACCAGTTCCAGAACCTGG	GAGTGGGGGTCCTCAGACCTGAGATCTGGGGAGGGTCCTGTGGACCCAGGGAGCCCTGAAGATGCCTAGGAGGGAGGGTTAGCAGGTGGGGGCTGAGTGTTCATACTGGGAGGGGCCGAGCAGAGTCA	AAGTGGGGGTCCTCAGACCTGAGATCTGGGGAGGGTCCTGTGGACCCAGGGAGCCCTGAAGATGCCTAGGAGGGAGGGTTAGCAGGTGGGGGCTGAGTGTTCATACTGGGAGGGGCCGAGCAGAGTCA	-
1	965,059	G	A	false	synonymous_variant	1,272	null	null	null	0.002694	synonymous_variant	synonymous_variant	410	152,214	ENSG00000187961	0	ENSG00000187961	528	0	ENSG00000187961	synonymous_variant	ENSG00000187583	1,422	ENSG00000187961	1,506	1,422	ENSG00000187583	synonymous_variant	NA	NA	CAGCCAGGGGCTCACCCCGCCTTCCCCCCAGGAGCACGCATGACCTGGTGGCCATGGACGGATGGTTGTACGCCGTGGGGGGTAACGACGGTAGCTCCAGCCTCAACTCCATCGAGAAGTACAACCC	GAGGACCAACAAGTGGGTGGCCGCATCCTGCATGTTCACCCGGCGCAGCAGTGTGGGTGTGGCGGTGCTGGAGCTGCTCAATTTCCCGCCGCCATCCTCCCCGACGCTGTCCGTGTCCTCCACCAGCC	AAGGACCAACAAGTGGGTGGCCGCATCCTGCATGTTCACCCGGCGCAGCAGTGTGGGTGTGGCGGTGCTGGAGCTGCTCAATTTCCCGCCGCCATCCTCCCCGACGCTGTCCGTGTCCTCCACCAGCC	+
1	965,059	G	A	false	synonymous_variant	1,272	null	null	null	0.002694	synonymous_variant	synonymous_variant	410	152,214	ENSG00000187961	0	ENSG00000187961	528	0	ENSG00000187961	synonymous_variant	ENSG00000187583	1,422	ENSG00000187961	1,506	1,422	ENSG00000187583	synonymous_variant	NA	NA	GGCTGGTGGAGGACACGGACAGCGTCGGGGAGGATGGCGGCGGGAAATTGAGCAGCTCCAGCACCGCCACACCCACACTGCTGCGCCGGGTGAACATGCAGGATGCGGCCACCCACTTGTTGGTCCT	CGGGTTGTACTTCTCGATGGAGTTGAGGCTGGAGCTACCGTCGTTACCCCCCACGGCGTACAACCATCCGTCCATGGCCACCAGGTCATGCGTGCTCCTGGGGGGAAGGCGGGGTGAGCCCCTGGCTG	TGGGTTGTACTTCTCGATGGAGTTGAGGCTGGAGCTACCGTCGTTACCCCCCACGGCGTACAACCATCCGTCCATGGCCACCAGGTCATGCGTGCTCCTGGGGGGAAGGCGGGGTGAGCCCCTGGCTG	-
1	965,125	G	C	false	synonymous_variant	1,272	null	null	null	0.199967	synonymous_variant	synonymous_variant	30,381	151,930	ENSG00000187961	0	ENSG00000187961	594	0	ENSG00000187961	synonymous_variant	ENSG00000187583	1,356	ENSG00000187961	1,572	1,356	ENSG00000187583	synonymous_variant	NA	NA	TGTACGCCGTGGGGGGTAACGACGGTAGCTCCAGCCTCAACTCCATCGAGAAGTACAACCCGAGGACCAACAAGTGGGTGGCCGCATCCTGCATGTTCACCCGGCGCAGCAGTGTGGGTGTGGCGGT	GCTGGAGCTGCTCAATTTCCCGCCGCCATCCTCCCCGACGCTGTCCGTGTCCTCCACCAGCCTCTGACCCACCTACCACCAGAGGCCTGCAGCCTCCCACATGCCTTAAGGGGACCGTGGCCCCCACC	CCTGGAGCTGCTCAATTTCCCGCCGCCATCCTCCCCGACGCTGTCCGTGTCCTCCACCAGCCTCTGACCCACCTACCACCAGAGGCCTGCAGCCTCCCACATGCCTTAAGGGGACCGTGGCCCCCACC	+
1	965,125	G	C	false	synonymous_variant	1,272	null	null	null	0.199967	synonymous_variant	synonymous_variant	30,381	151,930	ENSG00000187961	0	ENSG00000187961	594	0	ENSG00000187961	synonymous_variant	ENSG00000187583	1,356	ENSG00000187961	1,572	1,356	ENSG00000187583	synonymous_variant	NA	NA	GGTGGGGGCCACGGTCCCCTTAAGGCATGTGGGAGGCTGCAGGCCTCTGGTGGTAGGTGGGTCAGAGGCTGGTGGAGGACACGGACAGCGTCGGGGAGGATGGCGGCGGGAAATTGAGCAGCTCCAG	CACCGCCACACCCACACTGCTGCGCCGGGTGAACATGCAGGATGCGGCCACCCACTTGTTGGTCCTCGGGTTGTACTTCTCGATGGAGTTGAGGCTGGAGCTACCGTCGTTACCCCCCACGGCGTACA	GACCGCCACACCCACACTGCTGCGCCGGGTGAACATGCAGGATGCGGCCACCCACTTGTTGGTCCTCGGGTTGTACTTCTCGATGGAGTTGAGGCTGGAGCTACCGTCGTTACCCCCCACGGCGTACA	-
1	980,779	G	T	false	missense_variant	593	null	null	null	0.011048	missense_variant	missense_variant	1,683	152,340	ENSG00000187642	0	ENSG00000187642	4,137	0	ENSG00000187642	missense_variant	ENSG00000187642	1,313	ENSG00000187642	4,137	1,313	ENSG00000187642	missense_variant	NA	NA	TGAGAACTGGCTGGGAGGGCTGGCGCCGGGGCCGAGGGACGGTGGAGCTTCTGCCCGTGCGGACGTGCTGGGTGTCTGCTGACCGGTCCCCAGGGCCAAGACAGGCTCACCCTGAGACCTGCTGACC	GGCTGCTGTGTGGCCACGTCCTCCTCCTCGCAGCCCCGCCGGCTCCGCCCTCCTGCAGCTAGCTGCCCAGTTGGGAGAGGTGGGGCCCTGGGGGGACTGCTGCCACTGCTGTCCCCTTGGTCAATGTC	TGCTGCTGTGTGGCCACGTCCTCCTCCTCGCAGCCCCGCCGGCTCCGCCCTCCTGCAGCTAGCTGCCCAGTTGGGAGAGGTGGGGCCCTGGGGGGACTGCTGCCACTGCTGTCCCCTTGGTCAATGTC	+
1	980,779	G	T	false	missense_variant	593	null	null	null	0.011048	missense_variant	missense_variant	1,683	152,340	ENSG00000187642	0	ENSG00000187642	4,137	0	ENSG00000187642	missense_variant	ENSG00000187642	1,313	ENSG00000187642	4,137	1,313	ENSG00000187642	missense_variant	NA	NA	GACATTGACCAAGGGGACAGCAGTGGCAGCAGTCCCCCCAGGGCCCCACCTCTCCCAACTGGGCAGCTAGCTGCAGGAGGGCGGAGCCGGCGGGGCTGCGAGGAGGAGGACGTGGCCACACAGCAGC	CGGTCAGCAGGTCTCAGGGTGAGCCTGTCTTGGCCCTGGGGACCGGTCAGCAGACACCCAGCACGTCCGCACGGGCAGAAGCTCCACCGTCCCTCGGCCCCGGCGCCAGCCCTCCCAGCCAGTTCTCA	AGGTCAGCAGGTCTCAGGGTGAGCCTGTCTTGGCCCTGGGGACCGGTCAGCAGACACCCAGCACGTCCGCACGGGCAGAAGCTCCACCGTCCCTCGGCCCCGGCGCCAGCCCTCCCAGCCAGTTCTCA	-
1	1,047,561	T	C	false	splicing	1,655	null	null	null	0.793334	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	120,782	152,246	ENSG00000188157	11	ENSG00000188157	0	0	ENSG00000188157	splice_polypyrimidine_tract_variant	ENSG00000188157	13,454	ENSG00000188157	85	85	ENSG00000188157	splicing	NA	splicing:b1	GCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTAC	TCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAG	CCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAG	+
1	1,047,561	T	C	false	splicing	1,655	null	null	null	0.793334	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	120,782	152,246	ENSG00000188157	11	ENSG00000188157	0	0	ENSG00000188157	splice_polypyrimidine_tract_variant	ENSG00000188157	13,454	ENSG00000188157	85	85	ENSG00000188157	splicing	NA	splicing:b1	CTGGGGTCAAAGTGCACATCCACAATGGCGCGGACGGATTTGCCGGGCCCCAGGTCCCGCAAGCGGACACTCCGAAAATCCTTCTTGACGTCTGAATTCCGGAAGAGGTCGTCCAGCTGTGGCAGGG	AGTAGGCAAGGACTTGGGGGGCCGCCCAAGCCGGGCTGCCCTGGTGCTGCTCTGGGTATCTGGGGAGGAAGGCCAGTGGGTAGGTGGGGGCTGCGCCCCCGTCTTACGGTGCTCTCAATGCTCCTGGC	GGTAGGCAAGGACTTGGGGGGCCGCCCAAGCCGGGCTGCCCTGGTGCTGCTCTGGGTATCTGGGGAGGAAGGCCAGTGGGTAGGTGGGGGCTGCGCCCCCGTCTTACGGTGCTCTCAATGCTCCTGGC	-
1	1,051,820	C	T	false	splicing	1,641	null	null	null	0.786846	splice_donor_5th_base_variant	splice_donor_5th_base_variant	119,758	152,200	ENSG00000188157	4	ENSG00000188157	165	4	ENSG00000188157	splice_donor_5th_base_variant	ENSG00000188157	17,713	ENSG00000188157	165	165	ENSG00000188157	splicing	NA	splicing:b0	CCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAA	CGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCAC	TGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCAC	+
1	1,051,820	C	T	false	splicing	1,641	null	null	null	0.786846	splice_donor_5th_base_variant	splice_donor_5th_base_variant	119,758	152,200	ENSG00000188157	4	ENSG00000188157	165	4	ENSG00000188157	splice_donor_5th_base_variant	ENSG00000188157	17,713	ENSG00000188157	165	165	ENSG00000188157	splicing	NA	splicing:b0	GTGAGAGAGAGGCGGGAGGACAGAGGTGGCAGCACCGGGCCGTCCCCTCCTGGGCCCTCCTGGTGTGGGGGTCCGGTGTCCCGCCCCGAGGGCACAGATGGAACCGACAGCCAGCAGAGGATGGCAC	GTTACCTCTCGGTCACAGCGTTGAGGTACTCGACAAAGGTCCGCCCGTCAAAGGCCAAGGTATCCACGTCCCCCGCTGACTTCTCCACCAGCCCTGTGAGATAGGCAGGTGAGGGTGGGGCCTCGTGG	ATTACCTCTCGGTCACAGCGTTGAGGTACTCGACAAAGGTCCGCCCGTCAAAGGCCAAGGTATCCACGTCCCCCGCTGACTTCTCCACCAGCCCTGTGAGATAGGCAGGTGAGGGTGGGGCCTCGTGG	-
1	1,053,827	G	C	false	missense_variant	569	null	null	null	0.007172	missense_variant	missense_variant	1,093	152,398	ENSG00000188157	0	ENSG00000188157	0	0	ENSG00000188157	missense_variant	ENSG00000188157	19,720	ENSG00000242590	1,205	1,205	ENSG00000242590	missense_variant	NA	NA	CCCTGTCCTGTTGCCACCTTCCTAGAGGCCCTGACCTGCCCTCTGCCCTCCAGCGAGAAGGCACTGCAGAGCAACCACTTTGAACTGAGCCTGCGCACTGAGGCCACGCAGGGGCTGGTGCTCTGGA	GTGGCAAGGCCACGGAGCGGGCAGACTATGTGGCACTGGCCATTGTGGACGGGCACCTGCAACTGAGCTACAACCTGGGCTCCCAGCCCGTGGTGCTGCGTTCCACCGTGCCCGTCAACACCAACCGC	CTGGCAAGGCCACGGAGCGGGCAGACTATGTGGCACTGGCCATTGTGGACGGGCACCTGCAACTGAGCTACAACCTGGGCTCCCAGCCCGTGGTGCTGCGTTCCACCGTGCCCGTCAACACCAACCGC	+
1	1,053,827	G	C	false	missense_variant	569	null	null	null	0.007172	missense_variant	missense_variant	1,093	152,398	ENSG00000188157	0	ENSG00000188157	0	0	ENSG00000188157	missense_variant	ENSG00000188157	19,720	ENSG00000242590	1,205	1,205	ENSG00000242590	missense_variant	NA	NA	GCGGTTGGTGTTGACGGGCACGGTGGAACGCAGCACCACGGGCTGGGAGCCCAGGTTGTAGCTCAGTTGCAGGTGCCCGTCCACAATGGCCAGTGCCACATAGTCTGCCCGCTCCGTGGCCTTGCCA	CTCCAGAGCACCAGCCCCTGCGTGGCCTCAGTGCGCAGGCTCAGTTCAAAGTGGTTGCTCTGCAGTGCCTTCTCGCTGGAGGGCAGAGGGCAGGTCAGGGCCTCTAGGAAGGTGGCAACAGGACAGGG	GTCCAGAGCACCAGCCCCTGCGTGGCCTCAGTGCGCAGGCTCAGTTCAAAGTGGTTGCTCTGCAGTGCCTTCTCGCTGGAGGGCAGAGGGCAGGTCAGGGCCTCTAGGAAGGTGGCAACAGGACAGGG	-
1	1,054,917	A	G	false	missense_variant	517	null	null	null	0.001399	missense_variant	missense_variant	213	152,214	ENSG00000188157	0	ENSG00000188157	0	0	ENSG00000188157	missense_variant	ENSG00000237330	19,388	ENSG00000242590	115	115	ENSG00000242590	missense_variant	NA	NA	CACAGCCGGGTGACTCCCACTGTCTGTGCTGCAGGGGGCCTGCCGGAGCTGCCCGTGGGCCCAGCACTGCCCAAGGCCTACGGCACAGGCTTTGTGGGCTGCTTGCGGGACGTGGTGGTGGGCCGGC	ACCCGCTGCACCTGCTGGAGGACGCCGTCACCAAGCCAGAGCTGCGGCCCTGCCCCACCCCATGAGCTGGCACCAGAGCCCCGCGCCCGCTGTAATTATTTTCTATTTTTGTAAACTTGTTGCTTTTT	GCCCGCTGCACCTGCTGGAGGACGCCGTCACCAAGCCAGAGCTGCGGCCCTGCCCCACCCCATGAGCTGGCACCAGAGCCCCGCGCCCGCTGTAATTATTTTCTATTTTTGTAAACTTGTTGCTTTTT	+
1	1,054,917	A	G	false	missense_variant	517	null	null	null	0.001399	missense_variant	missense_variant	213	152,214	ENSG00000188157	0	ENSG00000188157	0	0	ENSG00000188157	missense_variant	ENSG00000237330	19,388	ENSG00000242590	115	115	ENSG00000242590	missense_variant	NA	NA	AAAAAGCAACAAGTTTACAAAAATAGAAAATAATTACAGCGGGCGCGGGGCTCTGGTGCCAGCTCATGGGGTGGGGCAGGGCCGCAGCTCTGGCTTGGTGACGGCGTCCTCCAGCAGGTGCAGCGGG	TGCCGGCCCACCACCACGTCCCGCAAGCAGCCCACAAAGCCTGTGCCGTAGGCCTTGGGCAGTGCTGGGCCCACGGGCAGCTCCGGCAGGCCCCCTGCAGCACAGACAGTGGGAGTCACCCGGCTGTG	CGCCGGCCCACCACCACGTCCCGCAAGCAGCCCACAAAGCCTGTGCCGTAGGCCTTGGGCAGTGCTGGGCCCACGGGCAGCTCCGGCAGGCCCCCTGCAGCACAGACAGTGGGAGTCACCCGGCTGTG	-
1	1,084,003	C	T	false	missense_variant	528	null	null	null	0.005706	missense_variant	missense_variant	869	152,308	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	8,170	ENSG00000131591	68	68	ENSG00000131591	missense_variant	NA	NA	GCCTGTGTCTGTGGCCCCGCACATAAAATGGGTCCTAACCGGGCTGACTCTTGGGTCCGCCTGACCCAGCACCACTGAAGCGATGGCTGCTCAGGAGGGCCTGGCGGAGGCCGGCTGCGTCTGTCCT	CGGGTGGAGCTGGACTTCAAGGAGGAGCAGGTATTGGGGGTCTGCCCTGTCGTGGTGGGTCCTCCTTTCCTGCAGACCCCACGTCTCGGGAACAGGAAAGAGCATGGAAGTCACGGGGATTAAAGGGG	TGGGTGGAGCTGGACTTCAAGGAGGAGCAGGTATTGGGGGTCTGCCCTGTCGTGGTGGGTCCTCCTTTCCTGCAGACCCCACGTCTCGGGAACAGGAAAGAGCATGGAAGTCACGGGGATTAAAGGGG	+
1	1,084,003	C	T	false	missense_variant	528	null	null	null	0.005706	missense_variant	missense_variant	869	152,308	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	8,170	ENSG00000131591	68	68	ENSG00000131591	missense_variant	NA	NA	CCCCTTTAATCCCCGTGACTTCCATGCTCTTTCCTGTTCCCGAGACGTGGGGTCTGCAGGAAAGGAGGACCCACCACGACAGGGCAGACCCCCAATACCTGCTCCTCCTTGAAGTCCAGCTCCACCC	GAGGACAGACGCAGCCGGCCTCCGCCAGGCCCTCCTGAGCAGCCATCGCTTCAGTGGTGCTGGGTCAGGCGGACCCAAGAGTCAGCCCGGTTAGGACCCATTTTATGTGCGGGGCCACAGACACAGGC	AAGGACAGACGCAGCCGGCCTCCGCCAGGCCCTCCTGAGCAGCCATCGCTTCAGTGGTGCTGGGTCAGGCGGACCCAAGAGTCAGCCCGGTTAGGACCCATTTTATGTGCGGGGCCACAGACACAGGC	-
1	1,084,338	G	A	false	missense_variant	519	null	null	null	0.001523	missense_variant	missense_variant	232	152,340	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	7,835	ENSG00000131591	265	265	ENSG00000131591	missense_variant	NA	NA	GTGGGTGGGTCTCCTGGGGACCCGGGCAGGGGTGGCCGAGATCCAGAGCCAGGCAAACCCGTTTGGGGACAAACCCACAGAGCACCCTGGGACTGGCCCAGAGATGGGAAACCCCACAGGGGGATGC	GACAGCTGCTGTTACCTGAGGACTGTGGCGGGGGGATCATTGCAGCCTTGAAAAGGAGAGAAAGGCAGAGTGAGGACTCGGGATGGCCTGGCACAGGCACACGCGGCCAGGGACGCTCAGCCCGGATG	AACAGCTGCTGTTACCTGAGGACTGTGGCGGGGGGATCATTGCAGCCTTGAAAAGGAGAGAAAGGCAGAGTGAGGACTCGGGATGGCCTGGCACAGGCACACGCGGCCAGGGACGCTCAGCCCGGATG	+
1	1,084,338	G	A	false	missense_variant	519	null	null	null	0.001523	missense_variant	missense_variant	232	152,340	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	7,835	ENSG00000131591	265	265	ENSG00000131591	missense_variant	NA	NA	CATCCGGGCTGAGCGTCCCTGGCCGCGTGTGCCTGTGCCAGGCCATCCCGAGTCCTCACTCTGCCTTTCTCTCCTTTTCAAGGCTGCAATGATCCCCCCGCCACAGTCCTCAGGTAACAGCAGCTGT	CGCATCCCCCTGTGGGGTTTCCCATCTCTGGGCCAGTCCCAGGGTGCTCTGTGGGTTTGTCCCCAAACGGGTTTGCCTGGCTCTGGATCTCGGCCACCCCTGCCCGGGTCCCCAGGAGACCCACCCAC	TGCATCCCCCTGTGGGGTTTCCCATCTCTGGGCCAGTCCCAGGGTGCTCTGTGGGTTTGTCCCCAAACGGGTTTGCCTGGCTCTGGATCTCGGCCACCCCTGCCCGGGTCCCCAGGAGACCCACCCAC	-
1	1,091,526	G	A	false	synonymous_variant	1,274	null	null	null	0.002982	synonymous_variant	synonymous_variant	454	152,254	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	synonymous_variant	ENSG00000131591	647	ENSG00000131591	550	550	ENSG00000131591	synonymous_variant	NA	NA	CTAGGGGAAGGGCCCACCGCCCTCCACAGAGGCTCTGGCTTAGGCCGCGTGGACACGTGAGGGGGGCACCTACCGTGTTCTCCATGGACTTGCTGGCGACTCCCACGAGAAGGCCAGCCAGGAGGGC	GAGGTGCCGCAGCGCCATGCCAGGAGCAGATGCGCAGAGCCTGCCACAGGGAGGAGCATGCGGAGCCAAAGAGATGGAGTGGGGCTGAGGCAGGGTGGGTGGGGCCAAATGAAAGTGGGGTCAAGAGA	AAGGTGCCGCAGCGCCATGCCAGGAGCAGATGCGCAGAGCCTGCCACAGGGAGGAGCATGCGGAGCCAAAGAGATGGAGTGGGGCTGAGGCAGGGTGGGTGGGGCCAAATGAAAGTGGGGTCAAGAGA	+
1	1,091,526	G	A	false	synonymous_variant	1,274	null	null	null	0.002982	synonymous_variant	synonymous_variant	454	152,254	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	synonymous_variant	ENSG00000131591	647	ENSG00000131591	550	550	ENSG00000131591	synonymous_variant	NA	NA	TCTCTTGACCCCACTTTCATTTGGCCCCACCCACCCTGCCTCAGCCCCACTCCATCTCTTTGGCTCCGCATGCTCCTCCCTGTGGCAGGCTCTGCGCATCTGCTCCTGGCATGGCGCTGCGGCACCT	CGCCCTCCTGGCTGGCCTTCTCGTGGGAGTCGCCAGCAAGTCCATGGAGAACACGGTAGGTGCCCCCCTCACGTGTCCACGCGGCCTAAGCCAGAGCCTCTGTGGAGGGCGGTGGGCCCTTCCCCTAG	TGCCCTCCTGGCTGGCCTTCTCGTGGGAGTCGCCAGCAAGTCCATGGAGAACACGGTAGGTGCCCCCCTCACGTGTCCACGCGGCCTAAGCCAGAGCCTCTGTGGAGGGCGGTGGGCCCTTCCCCTAG	-
1	1,091,533	C	T	false	missense_variant	543	null	null	null	0.022999	missense_variant	missense_variant	3,491	151,792	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	640	ENSG00000131591	543	543	ENSG00000131591	missense_variant	NA	NA	AAGGGCCCACCGCCCTCCACAGAGGCTCTGGCTTAGGCCGCGTGGACACGTGAGGGGGGCACCTACCGTGTTCTCCATGGACTTGCTGGCGACTCCCACGAGAAGGCCAGCCAGGAGGGCGAGGTGC	CGCAGCGCCATGCCAGGAGCAGATGCGCAGAGCCTGCCACAGGGAGGAGCATGCGGAGCCAAAGAGATGGAGTGGGGCTGAGGCAGGGTGGGTGGGGCCAAATGAAAGTGGGGTCAAGAGATGTTGGG	TGCAGCGCCATGCCAGGAGCAGATGCGCAGAGCCTGCCACAGGGAGGAGCATGCGGAGCCAAAGAGATGGAGTGGGGCTGAGGCAGGGTGGGTGGGGCCAAATGAAAGTGGGGTCAAGAGATGTTGGG	+
1	1,091,533	C	T	false	missense_variant	543	null	null	null	0.022999	missense_variant	missense_variant	3,491	151,792	ENSG00000131591	0	ENSG00000131591	0	0	ENSG00000131591	missense_variant	ENSG00000131591	640	ENSG00000131591	543	543	ENSG00000131591	missense_variant	NA	NA	CCCAACATCTCTTGACCCCACTTTCATTTGGCCCCACCCACCCTGCCTCAGCCCCACTCCATCTCTTTGGCTCCGCATGCTCCTCCCTGTGGCAGGCTCTGCGCATCTGCTCCTGGCATGGCGCTGC	GGCACCTCGCCCTCCTGGCTGGCCTTCTCGTGGGAGTCGCCAGCAAGTCCATGGAGAACACGGTAGGTGCCCCCCTCACGTGTCCACGCGGCCTAAGCCAGAGCCTCTGTGGAGGGCGGTGGGCCCTT	AGCACCTCGCCCTCCTGGCTGGCCTTCTCGTGGGAGTCGCCAGCAAGTCCATGGAGAACACGGTAGGTGCCCCCCTCACGTGTCCACGCGGCCTAAGCCAGAGCCTCTGTGGAGGGCGGTGGGCCCTT	-
1	1,091,986	C	T	false	splicing	1,643	null	null	null	0.005201	splice_donor_5th_base_variant	splice_donor_5th_base_variant	792	152,286	ENSG00000131591	0	ENSG00000131591	4	0	ENSG00000131591	splice_donor_5th_base_variant	ENSG00000131591	187	ENSG00000131591	90	90	ENSG00000131591	splicing	NA	splicing:b0	AGATGGGGCAGGGCCGTGGCAGGGGTGCAGGGCCACGACAGGGAAGGTGGAGCCAAATGGAGGTGGGGTGAAAGAGTGAAGGCTTGGGGCCTTTGGAGGCACGGGTGGGGCGAGGTGTAGGCAGGGC	CTTACCTGCCCCTCCAGGATGGGGACTACCGACATCAGCCCTTTGCCCGCCTGGGTGTTCAGGGGTTAGCTCTGGGAGCTCATGGGCTCAGCTGAGCCCTGCAGACCCCGGCCCAGTCCTGCAGATGA	TTTACCTGCCCCTCCAGGATGGGGACTACCGACATCAGCCCTTTGCCCGCCTGGGTGTTCAGGGGTTAGCTCTGGGAGCTCATGGGCTCAGCTGAGCCCTGCAGACCCCGGCCCAGTCCTGCAGATGA	+
1	1,091,986	C	T	false	splicing	1,643	null	null	null	0.005201	splice_donor_5th_base_variant	splice_donor_5th_base_variant	792	152,286	ENSG00000131591	0	ENSG00000131591	4	0	ENSG00000131591	splice_donor_5th_base_variant	ENSG00000131591	187	ENSG00000131591	90	90	ENSG00000131591	splicing	NA	splicing:b0	TCATCTGCAGGACTGGGCCGGGGTCTGCAGGGCTCAGCTGAGCCCATGAGCTCCCAGAGCTAACCCCTGAACACCCAGGCGGGCAAAGGGCTGATGTCGGTAGTCCCCATCCTGGAGGGGCAGGTAA	GGCCCTGCCTACACCTCGCCCCACCCGTGCCTCCAAAGGCCCCAAGCCTTCACTCTTTCACCCCACCTCCATTTGGCTCCACCTTCCCTGTCGTGGCCCTGCACCCCTGCCACGGCCCTGCCCCATCT	AGCCCTGCCTACACCTCGCCCCACCCGTGCCTCCAAAGGCCCCAAGCCTTCACTCTTTCACCCCACCTCCATTTGGCTCCACCTTCCCTGTCGTGGCCCTGCACCCCTGCCACGGCCCTGCCCCATCT	-
1	1,173,931	G	A	false	splicing	1,646	null	null	null	0.12086	splice_donor_5th_base_variant	splice_donor_5th_base_variant	18,398	152,226	ENSG00000162571	4	ENSG00000205231	0	0	ENSG00000205231	splice_donor_5th_base_variant	ENSG00000162571	32	ENSG00000162571	46	32	ENSG00000162571	splicing	NA	splicing:b0	CCATCCTCCGAAAACCCAAGCTCACCTCTGGGTTCCGGCTGGGTGGGGGTTGCCAGGAGACGGTTGCCAGGTCACCACTGTTGTTTCCTGGCCCAGGCTCCCAGGACCTTGTGGGCTGGGCAGGTAA	GAAGCGCCGGCGGCCACCAGCTGGGGTCCAGTGGGCTCGGCCCCGCCCTCCTACGCCCTGCCTGCGGGTCCCCTCGGGAGGCTGCTCAGGAGAGGAGGAGGCTGGGGAGGGGACTGGACAGGGATCGG	AAAGCGCCGGCGGCCACCAGCTGGGGTCCAGTGGGCTCGGCCCCGCCCTCCTACGCCCTGCCTGCGGGTCCCCTCGGGAGGCTGCTCAGGAGAGGAGGAGGCTGGGGAGGGGACTGGACAGGGATCGG	+
1	1,173,931	G	A	false	splicing	1,646	null	null	null	0.12086	splice_donor_5th_base_variant	splice_donor_5th_base_variant	18,398	152,226	ENSG00000162571	4	ENSG00000205231	0	0	ENSG00000205231	splice_donor_5th_base_variant	ENSG00000162571	32	ENSG00000162571	46	32	ENSG00000162571	splicing	NA	splicing:b0	CCGATCCCTGTCCAGTCCCCTCCCCAGCCTCCTCCTCTCCTGAGCAGCCTCCCGAGGGGACCCGCAGGCAGGGCGTAGGAGGGCGGGGCCGAGCCCACTGGACCCCAGCTGGTGGCCGCCGGCGCTT	CTTACCTGCCCAGCCCACAAGGTCCTGGGAGCCTGGGCCAGGAAACAACAGTGGTGACCTGGCAACCGTCTCCTGGCAACCCCCACCCAGCCGGAACCCAGAGGTGAGCTTGGGTTTTCGGAGGATGG	TTTACCTGCCCAGCCCACAAGGTCCTGGGAGCCTGGGCCAGGAAACAACAGTGGTGACCTGGCAACCGTCTCCTGGCAACCCCCACCCAGCCGGAACCCAGAGGTGAGCTTGGGTTTTCGGAGGATGG	-
1	1,180,035	C	T	false	splicing	1,675	null	null	null	0.026811	splice_region_variant	splice_region_variant	4,084	152,326	ENSG00000162571	0	ENSG00000162571	448	0	ENSG00000162571	splice_region_variant	ENSG00000162571	337	ENSG00000162571	448	337	ENSG00000162571	splicing	NA	splicing:b0	CCAGACGGGCCAGGGGGATTGTCCAGGGTATTGGAGAAATGGGCTGGGAGCAAACTGGCTGAGCCATGTCCGGGCTGAGTGGGCAGCTCCCGTAGCCACCCCGGTGGGACCCCACCCCGTTCACAGG	CCCGGCCCACGAGAGGCCAATGGGGAGCAGCCAGGAGGAGGGACTCCGGTGTCAGCCAAGCCAGCCAGACCACGACGCAGATGGACACTGTGGGCCGGACCTGGAGGGGGCAGAAAGAGCCTCTGCCA	TCCGGCCCACGAGAGGCCAATGGGGAGCAGCCAGGAGGAGGGACTCCGGTGTCAGCCAAGCCAGCCAGACCACGACGCAGATGGACACTGTGGGCCGGACCTGGAGGGGGCAGAAAGAGCCTCTGCCA	+
1	1,180,035	C	T	false	splicing	1,675	null	null	null	0.026811	splice_region_variant	splice_region_variant	4,084	152,326	ENSG00000162571	0	ENSG00000162571	448	0	ENSG00000162571	splice_region_variant	ENSG00000162571	337	ENSG00000162571	448	337	ENSG00000162571	splicing	NA	splicing:b0	TGGCAGAGGCTCTTTCTGCCCCCTCCAGGTCCGGCCCACAGTGTCCATCTGCGTCGTGGTCTGGCTGGCTTGGCTGACACCGGAGTCCCTCCTCCTGGCTGCTCCCCATTGGCCTCTCGTGGGCCGG	GCCTGTGAACGGGGTGGGGTCCCACCGGGGTGGCTACGGGAGCTGCCCACTCAGCCCGGACATGGCTCAGCCAGTTTGCTCCCAGCCCATTTCTCCAATACCCTGGACAATCCCCCTGGCCCGTCTGG	ACCTGTGAACGGGGTGGGGTCCCACCGGGGTGGCTACGGGAGCTGCCCACTCAGCCCGGACATGGCTCAGCCAGTTTGCTCCCAGCCCATTTCTCCAATACCCTGGACAATCCCCCTGGCCCGTCTGG	-
1	1,185,114	G	A	false	splicing	1,645	null	null	null	0.002678	splice_donor_5th_base_variant	splice_donor_5th_base_variant	408	152,340	ENSG00000162571	0	ENSG00000162571	4	0	ENSG00000162571	splice_donor_5th_base_variant	ENSG00000162571	5,416	ENSG00000162571	77	77	ENSG00000162571	splicing	NA	splicing:b0	CCTCTGTACATGCTGCTGAAGGAGCACACGGTGTGGAGCATGGAACACCTCAACCGCTACATCAGTGACACGTTCTGGAAGGCCCGGGGCCTCGCCAAGGACTGGGTCTTCACCACCCTCAAGGTGC	GTCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGGCACCAGGCACACAGATGTCCGTGGCGTGCGTGGGCGGCTGCGCTGAAGTGTGACCTGACCGTGT	ATCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGGCACCAGGCACACAGATGTCCGTGGCGTGCGTGGGCGGCTGCGCTGAAGTGTGACCTGACCGTGT	+
1	1,185,114	G	A	false	splicing	1,645	null	null	null	0.002678	splice_donor_5th_base_variant	splice_donor_5th_base_variant	408	152,340	ENSG00000162571	0	ENSG00000162571	4	0	ENSG00000162571	splice_donor_5th_base_variant	ENSG00000162571	5,416	ENSG00000162571	77	77	ENSG00000162571	splicing	NA	splicing:b0	ACACGGTCAGGTCACACTTCAGCGCAGCCGCCCACGCACGCCACGGACATCTGTGTGCCTGGTGCCCAGCCTGACCACACACCCCCGCCCCGAGGGATCTCACTCCCAGACTGGAGGGCACAGTGGA	CGCACCTTGAGGGTGGTGAAGACCCAGTCCTTGGCGAGGCCCCGGGCCTTCCAGAACGTGTCACTGATGTAGCGGTTGAGGTGTTCCATGCTCCACACCGTGTGCTCCTTCAGCAGCATGTACAGAGG	TGCACCTTGAGGGTGGTGAAGACCCAGTCCTTGGCGAGGCCCCGGGCCTTCCAGAACGTGTCACTGATGTAGCGGTTGAGGTGTTCCATGCTCCACACCGTGTGCTCCTTCAGCAGCATGTACAGAGG	-
1	1,185,115	T	C	false	splicing	1,660	null	null	null	0.01019	splice_donor_region_variant	splice_donor_region_variant	1,552	152,308	ENSG00000162571	0	ENSG00000162571	5	0	ENSG00000162571	splice_donor_region_variant	ENSG00000162571	5,417	ENSG00000162571	78	78	ENSG00000162571	splicing	NA	splicing:b0	CTCTGTACATGCTGCTGAAGGAGCACACGGTGTGGAGCATGGAACACCTCAACCGCTACATCAGTGACACGTTCTGGAAGGCCCGGGGCCTCGCCAAGGACTGGGTCTTCACCACCCTCAAGGTGCG	TCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGGCACCAGGCACACAGATGTCCGTGGCGTGCGTGGGCGGCTGCGCTGAAGTGTGACCTGACCGTGTG	CCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGGCACCAGGCACACAGATGTCCGTGGCGTGCGTGGGCGGCTGCGCTGAAGTGTGACCTGACCGTGTG	+
1	1,185,115	T	C	false	splicing	1,660	null	null	null	0.01019	splice_donor_region_variant	splice_donor_region_variant	1,552	152,308	ENSG00000162571	0	ENSG00000162571	5	0	ENSG00000162571	splice_donor_region_variant	ENSG00000162571	5,417	ENSG00000162571	78	78	ENSG00000162571	splicing	NA	splicing:b0	CACACGGTCAGGTCACACTTCAGCGCAGCCGCCCACGCACGCCACGGACATCTGTGTGCCTGGTGCCCAGCCTGACCACACACCCCCGCCCCGAGGGATCTCACTCCCAGACTGGAGGGCACAGTGG	ACGCACCTTGAGGGTGGTGAAGACCCAGTCCTTGGCGAGGCCCCGGGCCTTCCAGAACGTGTCACTGATGTAGCGGTTGAGGTGTTCCATGCTCCACACCGTGTGCTCCTTCAGCAGCATGTACAGAG	GCGCACCTTGAGGGTGGTGAAGACCCAGTCCTTGGCGAGGCCCCGGGCCTTCCAGAACGTGTCACTGATGTAGCGGTTGAGGTGTTCCATGCTCCACACCGTGTGCTCCTTCAGCAGCATGTACAGAG	-
1	1,197,558	G	A	false	missense_variant	574	null	null	null	0.126761	missense_variant	missense_variant	19,233	151,726	ENSG00000162571	0	ENSG00000162571	82	0	ENSG00000162571	missense_variant	ENSG00000186891	8,121	ENSG00000162571	12,521	8,121	ENSG00000186891	missense_variant	NA	NA	GCACCAGACCTGGTGCTCGAGACCTTCCGGAAGAGCCTGCGCGGCCAGAAGATGTTGCCTCTGCTGTCCCAGCGCCGCTTCGTGCTCCTGCACAACGGTGAGGCCGACCCGCGGCCGCACCTGGGGG	GCTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAG	ACTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAG	+
1	1,197,558	G	A	false	missense_variant	574	null	null	null	0.126761	missense_variant	missense_variant	19,233	151,726	ENSG00000162571	0	ENSG00000162571	82	0	ENSG00000162571	missense_variant	ENSG00000186891	8,121	ENSG00000162571	12,521	8,121	ENSG00000186891	missense_variant	NA	NA	CTGCGGCACCAAGGGAGGTGGCGCAGGCCTGCGGGCGCCCGGCTGGTCTGGGGCATGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGCGGAGGCTGCACGAG	CCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCGCTGGGACAGCAGAGGCAACATCTTCTGGCCGCGCAGGCTCTTCCGGAAGGTCTCGAGCACCAGGTCTGGTGC	TCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCGCTGGGACAGCAGAGGCAACATCTTCTGGCCGCGCAGGCTCTTCCGGAAGGTCTCGAGCACCAGGTCTGGTGC	-
1	1,197,572	C	T	false	missense_variant	574	null	null	null	0.001621	missense_variant	missense_variant	246	151,800	ENSG00000162571	0	ENSG00000162571	96	0	ENSG00000162571	missense_variant	ENSG00000186891	8,107	ENSG00000162571	12,535	8,107	ENSG00000186891	missense_variant	NA	NA	GCTCGAGACCTTCCGGAAGAGCCTGCGCGGCCAGAAGATGTTGCCTCTGCTGTCCCAGCGCCGCTTCGTGCTCCTGCACAACGGTGAGGCCGACCCGCGGCCGCACCTGGGGGGCTCGTGCAGCCTC	CGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACC	TGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACC	+
1	1,197,572	C	T	false	missense_variant	574	null	null	null	0.001621	missense_variant	missense_variant	246	151,800	ENSG00000162571	0	ENSG00000162571	96	0	ENSG00000162571	missense_variant	ENSG00000186891	8,107	ENSG00000162571	12,535	8,107	ENSG00000186891	missense_variant	NA	NA	GGTGGCCGGGGACGCTGCGGCACCAAGGGAGGTGGCGCAGGCCTGCGGGCGCCCGGCTGGTCTGGGGCATGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGC	GGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCGCTGGGACAGCAGAGGCAACATCTTCTGGCCGCGCAGGCTCTTCCGGAAGGTCTCGAGC	AGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCGCTGGGACAGCAGAGGCAACATCTTCTGGCCGCGCAGGCTCTTCCGGAAGGTCTCGAGC	-
1	1,197,630	A	G	false	missense_variant	574	null	null	null	0.001484	missense_variant	missense_variant	225	151,568	ENSG00000162571	0	ENSG00000162571	154	0	ENSG00000162571	missense_variant	ENSG00000186891	8,049	ENSG00000162571	12,593	8,049	ENSG00000186891	missense_variant	NA	NA	CGCCGCTTCGTGCTCCTGCACAACGGTGAGGCCGACCCGCGGCCGCACCTGGGGGGCTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGC	ATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACCCGGCCCCGACCTGGACAGCGCCCACGATGGGGAGCCCCAGGCCCCGGGCACGGAGCAG	GTGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACCCGGCCCCGACCTGGACAGCGCCCACGATGGGGAGCCCCAGGCCCCGGGCACGGAGCAG	+
1	1,197,630	A	G	false	missense_variant	574	null	null	null	0.001484	missense_variant	missense_variant	225	151,568	ENSG00000162571	0	ENSG00000162571	154	0	ENSG00000162571	missense_variant	ENSG00000186891	8,049	ENSG00000162571	12,593	8,049	ENSG00000186891	missense_variant	NA	NA	CTGCTCCGTGCCCGGGGCCTGGGGCTCCCCATCGTGGGCGCTGTCCAGGTCGGGGCCGGGTGGCCGGGGACGCTGCGGCACCAAGGGAGGTGGCGCAGGCCTGCGGGCGCCCGGCTGGTCTGGGGCA	TGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGCGGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCG	CGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGCGGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCGTTGTGCAGGAGCACGAAGCGGCG	-
1	1,197,653	C	T	false	missense_variant	574	null	null	null	0.00471	missense_variant	missense_variant	715	151,802	ENSG00000162571	0	ENSG00000162571	177	0	ENSG00000162571	missense_variant	ENSG00000186891	8,026	ENSG00000162571	12,616	8,026	ENSG00000186891	missense_variant	NA	NA	CGGTGAGGCCGACCCGCGGCCGCACCTGGGGGGCTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCC	CGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACCCGGCCCCGACCTGGACAGCGCCCACGATGGGGAGCCCCAGGCCCCGGGCACGGAGCAGTCGGGCACAGGCAACAGGCACCC	TGCAGGCCTGCGCCACCTCCCTTGGTGCCGCAGCGTCCCCGGCCACCCGGCCCCGACCTGGACAGCGCCCACGATGGGGAGCCCCAGGCCCCGGGCACGGAGCAGTCGGGCACAGGCAACAGGCACCC	+
1	1,197,653	C	T	false	missense_variant	574	null	null	null	0.00471	missense_variant	missense_variant	715	151,802	ENSG00000162571	0	ENSG00000162571	177	0	ENSG00000162571	missense_variant	ENSG00000186891	8,026	ENSG00000162571	12,616	8,026	ENSG00000186891	missense_variant	NA	NA	GGGTGCCTGTTGCCTGTGCCCGACTGCTCCGTGCCCGGGGCCTGGGGCTCCCCATCGTGGGCGCTGTCCAGGTCGGGGCCGGGTGGCCGGGGACGCTGCGGCACCAAGGGAGGTGGCGCAGGCCTGC	GGGCGCCCGGCTGGTCTGGGGCATGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGCGGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCG	AGGCGCCCGGCTGGTCTGGGGCATGCGGCATGGGTGGCCCGGAGGACTTGGCCTGGCGGGTGGGCAGGGGCGGCCAGCGGCGGAGGCTGCACGAGCCCCCCAGGTGCGGCCGCGGGTCGGCCTCACCG	-
1	1,257,135	A	G	false	splicing	1,685	null	null	null	0.08179	splice_region_variant	splice_region_variant	12,432	151,998	ENSG00000160087	4	ENSG00000160087	4	4	ENSG00000160087	splice_region_variant	ENSG00000184163	10,412	ENSG00000160087	799	799	ENSG00000160087	splicing	NA	splicing:b0	TCTATACTGCCCAGGGTGGGGCCCTTCTCCACCATGAAGCTCAGGAGCCCAGTCAGGATGGTGGAGACAGACCAGGCCGGGTTCCACGTGTCCGGGTGGAAATCCGTGATAGAAAGACACAGCCTGC	AAAACGGGGGCCCCGTCAGTGCACACTCCCCACCGCAGCCAGAAAGCCTCCGCGGCCCCTCCAGGCACCTTACCTGGTGTTGCACTTAAACCTCCCGTTGGGAGTGATCATATAGATACTGGGAGGTT	GAAACGGGGGCCCCGTCAGTGCACACTCCCCACCGCAGCCAGAAAGCCTCCGCGGCCCCTCCAGGCACCTTACCTGGTGTTGCACTTAAACCTCCCGTTGGGAGTGATCATATAGATACTGGGAGGTT	+
1	1,257,135	A	G	false	splicing	1,685	null	null	null	0.08179	splice_region_variant	splice_region_variant	12,432	151,998	ENSG00000160087	4	ENSG00000160087	4	4	ENSG00000160087	splice_region_variant	ENSG00000184163	10,412	ENSG00000160087	799	799	ENSG00000160087	splicing	NA	splicing:b0	AACCTCCCAGTATCTATATGATCACTCCCAACGGGAGGTTTAAGTGCAACACCAGGTAAGGTGCCTGGAGGGGCCGCGGAGGCTTTCTGGCTGCGGTGGGGAGTGTGCACTGACGGGGCCCCCGTTT	TGCAGGCTGTGTCTTTCTATCACGGATTTCCACCCGGACACGTGGAACCCGGCCTGGTCTGTCTCCACCATCCTGACTGGGCTCCTGAGCTTCATGGTGGAGAAGGGCCCCACCCTGGGCAGTATAGA	CGCAGGCTGTGTCTTTCTATCACGGATTTCCACCCGGACACGTGGAACCCGGCCTGGTCTGTCTCCACCATCCTGACTGGGCTCCTGAGCTTCATGGTGGAGAAGGGCCCCACCCTGGGCAGTATAGA	-
1	1,285,594	A	G	false	missense_variant	588	null	null	null	0.002357	missense_variant	missense_variant	359	152,326	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	1,514	ENSG00000162572	3,429	1,514	ENSG00000162572	missense_variant	NA	NA	CTGGGGTGGGTGCAGCCATCAGGGGCAAGAAGGGCAAGTCTTCCCCTGAGCCCCAGACCCCACGCGGGGCGCATGGACACGCTACCGTACTTGCCTTTGGGTAGATCGCCTGGGCCTGTGGCTCCCC	AGAGGCCCTGCCACCTGAAGGGATGGCAGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAA	GGAGGCCCTGCCACCTGAAGGGATGGCAGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAA	+
1	1,285,594	A	G	false	missense_variant	588	null	null	null	0.002357	missense_variant	missense_variant	359	152,326	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	1,514	ENSG00000162572	3,429	1,514	ENSG00000162572	missense_variant	NA	NA	TTTGAGTTTGGGCTGCTGGGGCAGCAGGACTCAGAGAACAGGGTGCTCAGGCCCTACCTGGCCCTGTTTGCAGGCAGCGTTGTGCTGAGTGGGTCTGTGCTGCCATCCCTTCAGGTGGCAGGGCCTC	TGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCTTGCCCCTGATGGCTGCACCCACCCCAG	CGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCTTGCCCCTGATGGCTGCACCCACCCCAG	-
1	1,285,599	C	T	false	missense_variant	588	null	null	null	0.001878	missense_variant	missense_variant	286	152,314	ENSG00000162572	0	ENSG00000162572	1	0	ENSG00000162572	missense_variant	ENSG00000162572	1,509	ENSG00000162572	3,434	1,509	ENSG00000162572	missense_variant	NA	NA	GTGGGTGCAGCCATCAGGGGCAAGAAGGGCAAGTCTTCCCCTGAGCCCCAGACCCCACGCGGGGCGCATGGACACGCTACCGTACTTGCCTTTGGGTAGATCGCCTGGGCCTGTGGCTCCCCAGAGG	CCCTGCCACCTGAAGGGATGGCAGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAG	TCCTGCCACCTGAAGGGATGGCAGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAG	+
1	1,285,599	C	T	false	missense_variant	588	null	null	null	0.001878	missense_variant	missense_variant	286	152,314	ENSG00000162572	0	ENSG00000162572	1	0	ENSG00000162572	missense_variant	ENSG00000162572	1,509	ENSG00000162572	3,434	1,509	ENSG00000162572	missense_variant	NA	NA	CTGAGTTTGAGTTTGGGCTGCTGGGGCAGCAGGACTCAGAGAACAGGGTGCTCAGGCCCTACCTGGCCCTGTTTGCAGGCAGCGTTGTGCTGAGTGGGTCTGTGCTGCCATCCCTTCAGGTGGCAGG	GCCTCTGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCTTGCCCCTGATGGCTGCACCCAC	ACCTCTGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCTTGCCCCTGATGGCTGCACCCAC	-
1	1,285,621	A	G	false	missense_variant	588	null	null	null	0.061904	missense_variant	missense_variant	9,428	152,300	ENSG00000162572	0	ENSG00000162572	23	0	ENSG00000162572	missense_variant	ENSG00000162572	1,487	ENSG00000162572	3,456	1,487	ENSG00000162572	missense_variant	NA	NA	AGAAGGGCAAGTCTTCCCCTGAGCCCCAGACCCCACGCGGGGCGCATGGACACGCTACCGTACTTGCCTTTGGGTAGATCGCCTGGGCCTGTGGCTCCCCAGAGGCCCTGCCACCTGAAGGGATGGC	AGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAGCTCCAAGGCTACACTGAGACGT	GGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAGCTCCAAGGCTACACTGAGACGT	+
1	1,285,621	A	G	false	missense_variant	588	null	null	null	0.061904	missense_variant	missense_variant	9,428	152,300	ENSG00000162572	0	ENSG00000162572	23	0	ENSG00000162572	missense_variant	ENSG00000162572	1,487	ENSG00000162572	3,456	1,487	ENSG00000162572	missense_variant	NA	NA	ACGTCTCAGTGTAGCCTTGGAGCTGAGTTTGAGTTTGGGCTGCTGGGGCAGCAGGACTCAGAGAACAGGGTGCTCAGGCCCTACCTGGCCCTGTTTGCAGGCAGCGTTGTGCTGAGTGGGTCTGTGC	TGCCATCCCTTCAGGTGGCAGGGCCTCTGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCT	CGCCATCCCTTCAGGTGGCAGGGCCTCTGGGGAGCCACAGGCCCAGGCGATCTACCCAAAGGCAAGTACGGTAGCGTGTCCATGCGCCCCGCGTGGGGTCTGGGGCTCAGGGGAAGACTTGCCCTTCT	-
1	1,290,931	C	T	false	missense_variant	541	null	null	null	0.001293	missense_variant	missense_variant	197	152,322	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	3,821	ENSG00000131584	4,076	3,821	ENSG00000162572	missense_variant	NA	NA	CCCGTGGTCTCTGCCCCCACATCCGCCCGTGGTACCCAGGATGGCCGGGGGCATGGGGGAGCCGTGGCCACAGCAAACCTTCCGTCTGCAGGGATGGACTCTGGCCACGCTAGGTGAACAGGGGCTG	CCGCATCAGAGCCACAGACAGAGGTGGGTGCACCCTCCCCCTCCAGAGAGGCATCACAGCCCCTCTCCCCTCAAAGCCCCCCTCCCCATCATGAAGGTCTGGGCCAGCGCCCTCATGCCTCTATCCTG	TCGCATCAGAGCCACAGACAGAGGTGGGTGCACCCTCCCCCTCCAGAGAGGCATCACAGCCCCTCTCCCCTCAAAGCCCCCCTCCCCATCATGAAGGTCTGGGCCAGCGCCCTCATGCCTCTATCCTG	+
1	1,290,931	C	T	false	missense_variant	541	null	null	null	0.001293	missense_variant	missense_variant	197	152,322	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	3,821	ENSG00000131584	4,076	3,821	ENSG00000162572	missense_variant	NA	NA	CAGGATAGAGGCATGAGGGCGCTGGCCCAGACCTTCATGATGGGGAGGGGGGCTTTGAGGGGAGAGGGGCTGTGATGCCTCTCTGGAGGGGGAGGGTGCACCCACCTCTGTCTGTGGCTCTGATGCG	GCAGCCCCTGTTCACCTAGCGTGGCCAGAGTCCATCCCTGCAGACGGAAGGTTTGCTGTGGCCACGGCTCCCCCATGCCCCCGGCCATCCTGGGTACCACGGGCGGATGTGGGGGCAGAGACCACGGG	ACAGCCCCTGTTCACCTAGCGTGGCCAGAGTCCATCCCTGCAGACGGAAGGTTTGCTGTGGCCACGGCTCCCCCATGCCCCCGGCCATCCTGGGTACCACGGGCGGATGTGGGGGCAGAGACCACGGG	-
1	1,290,932	C	T	false	missense_variant	541	null	null	null	0.001208	missense_variant	missense_variant	184	152,298	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	3,822	ENSG00000131584	4,075	3,822	ENSG00000162572	missense_variant	NA	NA	CCGTGGTCTCTGCCCCCACATCCGCCCGTGGTACCCAGGATGGCCGGGGGCATGGGGGAGCCGTGGCCACAGCAAACCTTCCGTCTGCAGGGATGGACTCTGGCCACGCTAGGTGAACAGGGGCTGC	CGCATCAGAGCCACAGACAGAGGTGGGTGCACCCTCCCCCTCCAGAGAGGCATCACAGCCCCTCTCCCCTCAAAGCCCCCCTCCCCATCATGAAGGTCTGGGCCAGCGCCCTCATGCCTCTATCCTGC	TGCATCAGAGCCACAGACAGAGGTGGGTGCACCCTCCCCCTCCAGAGAGGCATCACAGCCCCTCTCCCCTCAAAGCCCCCCTCCCCATCATGAAGGTCTGGGCCAGCGCCCTCATGCCTCTATCCTGC	+
1	1,290,932	C	T	false	missense_variant	541	null	null	null	0.001208	missense_variant	missense_variant	184	152,298	ENSG00000162572	0	ENSG00000162572	0	0	ENSG00000162572	missense_variant	ENSG00000162572	3,822	ENSG00000131584	4,075	3,822	ENSG00000162572	missense_variant	NA	NA	GCAGGATAGAGGCATGAGGGCGCTGGCCCAGACCTTCATGATGGGGAGGGGGGCTTTGAGGGGAGAGGGGCTGTGATGCCTCTCTGGAGGGGGAGGGTGCACCCACCTCTGTCTGTGGCTCTGATGC	GGCAGCCCCTGTTCACCTAGCGTGGCCAGAGTCCATCCCTGCAGACGGAAGGTTTGCTGTGGCCACGGCTCCCCCATGCCCCCGGCCATCCTGGGTACCACGGGCGGATGTGGGGGCAGAGACCACGG	AGCAGCCCCTGTTCACCTAGCGTGGCCAGAGTCCATCCCTGCAGACGGAAGGTTTGCTGTGGCCACGGCTCCCCCATGCCCCCGGCCATCCTGGGTACCACGGGCGGATGTGGGGGCAGAGACCACGG	-
1	1,295,828	C	T	false	missense_variant	530	null	null	null	0.001385	missense_variant	missense_variant	211	152,338	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,431	ENSG00000278073	341	341	ENSG00000278073	missense_variant	NA	NA	GCCCCTCCCAGCCCTGCCGGGGCATGGCCTCCCACCTGAGGACAGAGCGGCCACACAGGGCAGAACGGGCTCAAGCCGGACCTTGCGGCGGGCAGTGGGAGCGCGGGGAGAGCTGTGGGGCCGCAGG	CACTTCTGCACCCTCCAGCGTCTTGGGGCCTCCAGGGCTGGTGCCATGGGCGCCTTCCGCAGAAACTTCTTTTCCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAAC	TACTTCTGCACCCTCCAGCGTCTTGGGGCCTCCAGGGCTGGTGCCATGGGCGCCTTCCGCAGAAACTTCTTTTCCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAAC	+
1	1,295,828	C	T	false	missense_variant	530	null	null	null	0.001385	missense_variant	missense_variant	211	152,338	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,431	ENSG00000278073	341	341	ENSG00000278073	missense_variant	NA	NA	GTTCCCCCCTGGTCCAGGCAGGACAAGGAGGCCTGGATCAAGGACAAATACGTGGAAAAGAAGTTTCTGCGGAAGGCGCCCATGGCACCAGCCCTGGAGGCCCCAAGACGCTGGAGGGTGCAGAAGT	GCCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTTGAGCCCGTTCTGCCCTGTGTGGCCGCTCTGTCCTCAGGTGGGAGGCCATGCCCCGGCAGGGCTGGGAGGGGC	ACCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTTGAGCCCGTTCTGCCCTGTGTGGCCGCTCTGTCCTCAGGTGGGAGGCCATGCCCCGGCAGGGCTGGGAGGGGC	-
1	1,295,865	C	G	false	missense_variant	519	null	null	null	0.00197	missense_variant	missense_variant	300	152,290	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,394	ENSG00000278073	304	304	ENSG00000278073	missense_variant	NA	NA	GAGGACAGAGCGGCCACACAGGGCAGAACGGGCTCAAGCCGGACCTTGCGGCGGGCAGTGGGAGCGCGGGGAGAGCTGTGGGGCCGCAGGCACTTCTGCACCCTCCAGCGTCTTGGGGCCTCCAGGG	CTGGTGCCATGGGCGCCTTCCGCAGAAACTTCTTTTCCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAACATGAGGCTGTGCCCCCAGGCTGGGGCTCCCTGACTGA	GTGGTGCCATGGGCGCCTTCCGCAGAAACTTCTTTTCCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAACATGAGGCTGTGCCCCCAGGCTGGGGCTCCCTGACTGA	+
1	1,295,865	C	G	false	missense_variant	519	null	null	null	0.00197	missense_variant	missense_variant	300	152,290	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,394	ENSG00000278073	304	304	ENSG00000278073	missense_variant	NA	NA	TCAGTCAGGGAGCCCCAGCCTGGGGGCACAGCCTCATGTTCCCCCCTGGTCCAGGCAGGACAAGGAGGCCTGGATCAAGGACAAATACGTGGAAAAGAAGTTTCTGCGGAAGGCGCCCATGGCACCA	GCCCTGGAGGCCCCAAGACGCTGGAGGGTGCAGAAGTGCCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTTGAGCCCGTTCTGCCCTGTGTGGCCGCTCTGTCCTC	CCCCTGGAGGCCCCAAGACGCTGGAGGGTGCAGAAGTGCCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTTGAGCCCGTTCTGCCCTGTGTGGCCGCTCTGTCCTC	-
1	1,295,900	T	A	false	missense_variant	519	null	null	null	0.005708	missense_variant	missense_variant	869	152,244	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,359	ENSG00000278073	269	269	ENSG00000278073	missense_variant	NA	NA	AAGCCGGACCTTGCGGCGGGCAGTGGGAGCGCGGGGAGAGCTGTGGGGCCGCAGGCACTTCTGCACCCTCCAGCGTCTTGGGGCCTCCAGGGCTGGTGCCATGGGCGCCTTCCGCAGAAACTTCTTT	TCCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAACATGAGGCTGTGCCCCCAGGCTGGGGCTCCCTGACTGATCCAGACTGTACCCCACCTCACCGGGAGCTGCTGG	ACCACGTATTTGTCCTTGATCCAGGCCTCCTTGTCCTGCCTGGACCAGGGGGGAACATGAGGCTGTGCCCCCAGGCTGGGGCTCCCTGACTGATCCAGACTGTACCCCACCTCACCGGGAGCTGCTGG	+
1	1,295,900	T	A	false	missense_variant	519	null	null	null	0.005708	missense_variant	missense_variant	869	152,244	ENSG00000131584	0	ENSG00000131584	0	0	ENSG00000131584	missense_variant	ENSG00000131584	7,359	ENSG00000278073	269	269	ENSG00000278073	missense_variant	NA	NA	CCAGCAGCTCCCGGTGAGGTGGGGTACAGTCTGGATCAGTCAGGGAGCCCCAGCCTGGGGGCACAGCCTCATGTTCCCCCCTGGTCCAGGCAGGACAAGGAGGCCTGGATCAAGGACAAATACGTGG	AAAAGAAGTTTCTGCGGAAGGCGCCCATGGCACCAGCCCTGGAGGCCCCAAGACGCTGGAGGGTGCAGAAGTGCCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTT	TAAAGAAGTTTCTGCGGAAGGCGCCCATGGCACCAGCCCTGGAGGCCCCAAGACGCTGGAGGGTGCAGAAGTGCCTGCGGCCCCACAGCTCTCCCCGCGCTCCCACTGCCCGCCGCAAGGTCCGGCTT	-
1	1,296,207	G	A	false	splicing	1,660	null	null	null	0.040383	splice_donor_region_variant	splice_donor_region_variant	6,150	152,290	ENSG00000131584	3	ENSG00000131584	3	3	ENSG00000131584	splice_donor_region_variant	ENSG00000131584	7,052	ENSG00000278073	36	36	ENSG00000278073	splicing	NA	splicing:b0	CACAGCGCTGTTTCCAAGCTCACACATCAGCTAGCGGGAGACAGGGCGAGCAGGCATCAGTGCGAACCTGCAGACCCCAGCTCCCGCCCCCACAAACGGGGTCCCGTGGCCTCCAGGAGCCCCACAC	GCACCTTTAGCAGCTCAGGCTCCCACGAGTCCAGCGTCAGGGACCGCACCTTGGAGCAGTGGACACCCAGGCTCCTGGAGAGCAGAGGTAGGGATGAGTCTGGGGGAGGCAAGGCCCCCAGCTCCGGC	ACACCTTTAGCAGCTCAGGCTCCCACGAGTCCAGCGTCAGGGACCGCACCTTGGAGCAGTGGACACCCAGGCTCCTGGAGAGCAGAGGTAGGGATGAGTCTGGGGGAGGCAAGGCCCCCAGCTCCGGC	+
1	1,296,207	G	A	false	splicing	1,660	null	null	null	0.040383	splice_donor_region_variant	splice_donor_region_variant	6,150	152,290	ENSG00000131584	3	ENSG00000131584	3	3	ENSG00000131584	splice_donor_region_variant	ENSG00000131584	7,052	ENSG00000278073	36	36	ENSG00000278073	splicing	NA	splicing:b0	GCCGGAGCTGGGGGCCTTGCCTCCCCCAGACTCATCCCTACCTCTGCTCTCCAGGAGCCTGGGTGTCCACTGCTCCAAGGTGCGGTCCCTGACGCTGGACTCGTGGGAGCCTGAGCTGCTAAAGGTG	CGTGTGGGGCTCCTGGAGGCCACGGGACCCCGTTTGTGGGGGCGGGAGCTGGGGTCTGCAGGTTCGCACTGATGCCTGCTCGCCCTGTCTCCCGCTAGCTGATGTGTGAGCTTGGAAACAGCGCTGTG	TGTGTGGGGCTCCTGGAGGCCACGGGACCCCGTTTGTGGGGGCGGGAGCTGGGGTCTGCAGGTTCGCACTGATGCCTGCTCGCCCTGTCTCCCGCTAGCTGATGTGTGAGCTTGGAAACAGCGCTGTG	-
1	1,308,624	G	A	false	5_prime_UTR_variant	1,335	null	null	null	0.002373	5_prime_UTR_variant	5_prime_UTR_variant	330	139,066	ENSG00000169972	0	ENSG00000169972	0	0	ENSG00000169972	5_prime_UTR_variant	ENSG00000169972	26	ENSG00000169972	12	12	ENSG00000169972	5_prime_UTR_variant	NA	NA	TGGCCGCCGTGGCGCGGTGCCACCGCGCAGGCGCAAGAGCGGCCGGGGCCGGGGGGGAGGGGGGGGGGGCGTGACCAGGCCGCGTCCGCGCGCGCGCAGGATTCCTGCGCTGGAGGCCGCCTCTGAC	GCCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGCCTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAAGTAGGTTTCCCAGGCGCAGCGGCGGGCGCCA	ACCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGCCTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAAGTAGGTTTCCCAGGCGCAGCGGCGGGCGCCA	+
1	1,308,624	G	A	false	5_prime_UTR_variant	1,335	null	null	null	0.002373	5_prime_UTR_variant	5_prime_UTR_variant	330	139,066	ENSG00000169972	0	ENSG00000169972	0	0	ENSG00000169972	5_prime_UTR_variant	ENSG00000169972	26	ENSG00000169972	12	12	ENSG00000169972	5_prime_UTR_variant	NA	NA	TGGCGCCCGCCGCTGCGCCTGGGAAACCTACTTAAAGTCGGTGCCCACGTACTGGAAGTACACAAGATAGCGCGCGCGCACGGAGCCTGAGGCCGGCGCCGAACTCATGGCGGAGCCCAGCCGGTGG	CGTCAGAGGCGGCCTCCAGCGCAGGAATCCTGCGCGCGCGCGGACGCGGCCTGGTCACGCCCCCCCCCCCTCCCCCCCGGCCCCGGCCGCTCTTGCGCCTGCGCGGTGGCACCGCGCCACGGCGGCCA	TGTCAGAGGCGGCCTCCAGCGCAGGAATCCTGCGCGCGCGCGGACGCGGCCTGGTCACGCCCCCCCCCCCTCCCCCCCGGCCCCGGCCGCTCTTGCGCCTGCGCGGTGGCACCGCGCCACGGCGGCCA	-
1	1,309,796	C	T	false	missense_variant	597	null	null	null	0.045362	missense_variant	missense_variant	6,910	152,330	ENSG00000169972	0	ENSG00000169972	0	0	ENSG00000169972	missense_variant	ENSG00000169972	974	ENSG00000131584	186	186	ENSG00000131584	missense_variant	NA	NA	TGGTCCCTGAAGCTGCCTGGATATGGTCGCCATGCAGGAAGCCGCCCAGCACCTCCTCGGCACACACGACTTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCTGCGC	CGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGTGAGGAAGGGCCCCTGGGCTGTGGCCCTGCCCTCAAGTCACGTGCTGATTTTAGCTCCAGCACCTCCCCCA	TGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGTGAGGAAGGGCCCCTGGGCTGTGGCCCTGCCCTCAAGTCACGTGCTGATTTTAGCTCCAGCACCTCCCCCA	+
1	1,309,796	C	T	false	missense_variant	597	null	null	null	0.045362	missense_variant	missense_variant	6,910	152,330	ENSG00000169972	0	ENSG00000169972	0	0	ENSG00000169972	missense_variant	ENSG00000169972	974	ENSG00000131584	186	186	ENSG00000131584	missense_variant	NA	NA	TGGGGGAGGTGCTGGAGCTAAAATCAGCACGTGACTTGAGGGCAGGGCCACAGCCCAGGGGCCCTTCCTCACCTGCTCTCCTCGGGGGTGACCAAGGGGCTGGCTTGGCCTGGGGAAACGGAGACCC	GGCGCAGCGTTCGCACGGGGCTCGGCACCGGGCTGCCAGCGGACTGGAAGGCGCTGAAGTCGTGTGTGCCGAGGAGGTGCTGGGCGGCTTCCTGCATGGCGACCATATCCAGGCAGCTTCAGGGACCA	AGCGCAGCGTTCGCACGGGGCTCGGCACCGGGCTGCCAGCGGACTGGAAGGCGCTGAAGTCGTGTGTGCCGAGGAGGTGCTGGGCGGCTTCCTGCATGGCGACCATATCCAGGCAGCTTCAGGGACCA	-
1	1,319,063	G	A	false	missense_variant	565	null	null	null	0.759125	missense_variant	missense_variant	115,466	152,104	ENSG00000127054	0	ENSG00000127054	0	0	ENSG00000127054	missense_variant	ENSG00000127054	5,566	ENSG00000127054	282	282	ENSG00000127054	missense_variant	NA	NA	CCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCC	GGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCT	AGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCT	+
1	1,319,063	G	A	false	missense_variant	565	null	null	null	0.759125	missense_variant	missense_variant	115,466	152,104	ENSG00000127054	0	ENSG00000127054	0	0	ENSG00000127054	missense_variant	ENSG00000127054	5,566	ENSG00000127054	282	282	ENSG00000127054	missense_variant	NA	NA	AGCCCACCCCACCTCACTCTTGCGTCCAGCACCGTGGGGACACCAGGAGGCGTCAGCGCGAGGATGCGGGTCCCAGACCAGACTGGGCGCCGACCCGGGAGAGCACGTGCAGGGTGGGGGTATGCAC	CGGCTTATGAACCCACCAGGCTCTGTCCGAGCGGCATTGAAATGGCCAGAGTGGGACAGGCTGGTGCCCTCAGAGCGCTTGGAGCGGCCAGAGACTCGCTGGAGCTCCCGGGGTGTTGCCGGGCAGGG	TGGCTTATGAACCCACCAGGCTCTGTCCGAGCGGCATTGAAATGGCCAGAGTGGGACAGGCTGGTGCCCTCAGAGCGCTTGGAGCGGCCAGAGACTCGCTGGAGCTCCCGGGGTGTTGCCGGGCAGGG	-
1	1,327,577	C	T	false	synonymous_variant	1,273	null	null	null	0.001345	synonymous_variant	synonymous_variant	205	152,372	ENSG00000224051	0	ENSG00000224051	0	0	ENSG00000224051	synonymous_variant	ENSG00000224051	2,335	ENSG00000224051	2,820	2,335	ENSG00000224051	synonymous_variant	NA	NA	TGCACCGCGCCCTGCACTGGCTGCAGCTGTTCCTGGAGGGCCTGCGTACCAGCCCCGAGGACGCACGCACCTCCGCGCTCTGCGCCGACTCCTACAACGCCTCGCTGGCCGCCTACCACCCCTGGGT	CGTGCGCCGCGCCGTCACCGTGGCCTTCTGCACGCTGCCCACACGCGAGGTCTTCCTGGAGGCCATGAACGTGGGGCCCCCGGAGCAGGCCGTGCAGATGCTAGGCGAGGCCCTCCCCTTCATCCAGC	TGTGCGCCGCGCCGTCACCGTGGCCTTCTGCACGCTGCCCACACGCGAGGTCTTCCTGGAGGCCATGAACGTGGGGCCCCCGGAGCAGGCCGTGCAGATGCTAGGCGAGGCCCTCCCCTTCATCCAGC	+
1	1,327,577	C	T	false	synonymous_variant	1,273	null	null	null	0.001345	synonymous_variant	synonymous_variant	205	152,372	ENSG00000224051	0	ENSG00000224051	0	0	ENSG00000224051	synonymous_variant	ENSG00000224051	2,335	ENSG00000224051	2,820	2,335	ENSG00000224051	synonymous_variant	NA	NA	GCTGGATGAAGGGGAGGGCCTCGCCTAGCATCTGCACGGCCTGCTCCGGGGGCCCCACGTTCATGGCCTCCAGGAAGACCTCGCGTGTGGGCAGCGTGCAGAAGGCCACGGTGACGGCGCGGCGCAC	GACCCAGGGGTGGTAGGCGGCCAGCGAGGCGTTGTAGGAGTCGGCGCAGAGCGCGGAGGTGCGTGCGTCCTCGGGGCTGGTACGCAGGCCCTCCAGGAACAGCTGCAGCCAGTGCAGGGCGCGGTGCA	AACCCAGGGGTGGTAGGCGGCCAGCGAGGCGTTGTAGGAGTCGGCGCAGAGCGCGGAGGTGCGTGCGTCCTCGGGGCTGGTACGCAGGCCCTCCAGGAACAGCTGCAGCCAGTGCAGGGCGCGGTGCA	-
1	1,327,586	C	T	false	synonymous_variant	1,273	null	null	null	0.808627	synonymous_variant	synonymous_variant	123,170	152,320	ENSG00000224051	0	ENSG00000224051	0	0	ENSG00000224051	synonymous_variant	ENSG00000224051	2,344	ENSG00000224051	2,829	2,344	ENSG00000224051	synonymous_variant	NA	NA	CCCTGCACTGGCTGCAGCTGTTCCTGGAGGGCCTGCGTACCAGCCCCGAGGACGCACGCACCTCCGCGCTCTGCGCCGACTCCTACAACGCCTCGCTGGCCGCCTACCACCCCTGGGTCGTGCGCCG	CGCCGTCACCGTGGCCTTCTGCACGCTGCCCACACGCGAGGTCTTCCTGGAGGCCATGAACGTGGGGCCCCCGGAGCAGGCCGTGCAGATGCTAGGCGAGGCCCTCCCCTTCATCCAGCGTGTCTACA	TGCCGTCACCGTGGCCTTCTGCACGCTGCCCACACGCGAGGTCTTCCTGGAGGCCATGAACGTGGGGCCCCCGGAGCAGGCCGTGCAGATGCTAGGCGAGGCCCTCCCCTTCATCCAGCGTGTCTACA	+
1	1,327,586	C	T	false	synonymous_variant	1,273	null	null	null	0.808627	synonymous_variant	synonymous_variant	123,170	152,320	ENSG00000224051	0	ENSG00000224051	0	0	ENSG00000224051	synonymous_variant	ENSG00000224051	2,344	ENSG00000224051	2,829	2,344	ENSG00000224051	synonymous_variant	NA	NA	TGTAGACACGCTGGATGAAGGGGAGGGCCTCGCCTAGCATCTGCACGGCCTGCTCCGGGGGCCCCACGTTCATGGCCTCCAGGAAGACCTCGCGTGTGGGCAGCGTGCAGAAGGCCACGGTGACGGC	GCGGCGCACGACCCAGGGGTGGTAGGCGGCCAGCGAGGCGTTGTAGGAGTCGGCGCAGAGCGCGGAGGTGCGTGCGTCCTCGGGGCTGGTACGCAGGCCCTCCAGGAACAGCTGCAGCCAGTGCAGGG	ACGGCGCACGACCCAGGGGTGGTAGGCGGCCAGCGAGGCGTTGTAGGAGTCGGCGCAGAGCGCGGAGGTGCGTGCGTCCTCGGGGCTGGTACGCAGGCCCTCCAGGAACAGCTGCAGCCAGTGCAGGG	-
1	1,336,473	G	C	false	missense_variant	594	null	null	null	0.012737	missense_variant	missense_variant	1,940	152,316	ENSG00000107404	0	ENSG00000107404	1,860	0	ENSG00000107404	missense_variant	ENSG00000107404	2,948	ENSG00000284372	3,234	2,948	ENSG00000107404	missense_variant	NA	NA	GCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCC	GGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGG	CGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGG	+
1	1,336,473	G	C	false	missense_variant	594	null	null	null	0.012737	missense_variant	missense_variant	1,940	152,316	ENSG00000107404	0	ENSG00000107404	1,860	0	ENSG00000107404	missense_variant	ENSG00000107404	2,948	ENSG00000284372	3,234	2,948	ENSG00000107404	missense_variant	NA	NA	CCGGTCACCTGGCGGGGGCGGTTGTTCTGGACGTGGCCGGGCCTGGTGCTGACAGGCTCCTTCCCCATCCTGTTCTCACTCCCAGGGAGCAAAAGCAGTGGGTCCACCCGGAGCAGCCGCCGGGCCC	CGGGCCGTGAGAAGGAGCGTCGGGCGGCGGGAGCTGGGGGCAGTGGCAGTGAATCGGATCACACGGCACCGAGTGGGGTGGGGAGCAGCTGGCGAGAGCGTCCGGCCGGCCAGCTCAGCCGTGGCAGC	GGGGCCGTGAGAAGGAGCGTCGGGCGGCGGGAGCTGGGGGCAGTGGCAGTGAATCGGATCACACGGCACCGAGTGGGGTGGGGAGCAGCTGGCGAGAGCGTCCGGCCGGCCAGCTCAGCCGTGGCAGC	-
1	1,359,593	T	C	false	tss_proximal	1,015	null	null	null	0.003221	intron_variant	pELS	490	152,120	ENSG00000162576	798	ENSG00000162576	4,080	798	ENSG00000162576	tss_proximal	ENSG00000162576	798	ENSG00000162576	4,080	798	ENSG00000162576	tss_proximal	tss_prox:b1	tss_prox:b1	AACCACAACCACTAGAAACCCTCAGTGCATAGTTCCGCCCGCCCACTTGGAGTGAGCTCTCCTTACAGGCCCCGAGGGCCCCAGCTGGGTGGGGGGCTCACCCCTGAACCCTGCTCTGGTGCCCAAG	TCCTCAGACAGTGGGAAGCCCAGTGCAGATCAGAGTGGTGGTCTCAGGGCGAGGGGAGGGGAACCTGCGGCTGCTCCAGTGAGAGGAACGGGCAGGACACGGACCGGCGTAAGGACAGAAGACCCCAC	CCCTCAGACAGTGGGAAGCCCAGTGCAGATCAGAGTGGTGGTCTCAGGGCGAGGGGAGGGGAACCTGCGGCTGCTCCAGTGAGAGGAACGGGCAGGACACGGACCGGCGTAAGGACAGAAGACCCCAC	+
1	1,359,593	T	C	false	tss_proximal	1,015	null	null	null	0.003221	intron_variant	pELS	490	152,120	ENSG00000162576	798	ENSG00000162576	4,080	798	ENSG00000162576	tss_proximal	ENSG00000162576	798	ENSG00000162576	4,080	798	ENSG00000162576	tss_proximal	tss_prox:b1	tss_prox:b1	GTGGGGTCTTCTGTCCTTACGCCGGTCCGTGTCCTGCCCGTTCCTCTCACTGGAGCAGCCGCAGGTTCCCCTCCCCTCGCCCTGAGACCACCACTCTGATCTGCACTGGGCTTCCCACTGTCTGAGG	ACTTGGGCACCAGAGCAGGGTTCAGGGGTGAGCCCCCCACCCAGCTGGGGCCCTCGGGGCCTGTAAGGAGAGCTCACTCCAAGTGGGCGGGCGGAACTATGCACTGAGGGTTTCTAGTGGTTGTGGTT	GCTTGGGCACCAGAGCAGGGTTCAGGGGTGAGCCCCCCACCCAGCTGGGGCCCTCGGGGCCTGTAAGGAGAGCTCACTCCAAGTGGGCGGGCGGAACTATGCACTGAGGGTTTCTAGTGGTTGTGGTT	-
1	1,405,744	A	T	false	missense_variant	571	null	null	null	0.001209	missense_variant	missense_variant	184	152,216	ENSG00000242485	0	ENSG00000264293	0	0	ENSG00000242485	missense_variant	ENSG00000242485	1,253	ENSG00000264293	7	7	ENSG00000264293	missense_variant	NA	NA	TCACCATATTGATACCACACTTAACATGGACACCCCATCAGCATAGCAAACTACAGCCCAGAAGTCAGTCTCCAGGGATCCTCTGGCCTCAGCCTCCTGATTAGCTGGGACTACAGGAAGCACCACC	ACGCCCCGCATGATGGTTTCTGCAGATGTCCAGAATTTCAGTGGGACCCACATACTCACCCATACCTTAACTAAATTCCCAATGAGCGCTGGATACTTCAGTCCATGTTCCTGGCTAGCAGCTGTAAT	TCGCCCCGCATGATGGTTTCTGCAGATGTCCAGAATTTCAGTGGGACCCACATACTCACCCATACCTTAACTAAATTCCCAATGAGCGCTGGATACTTCAGTCCATGTTCCTGGCTAGCAGCTGTAAT	+
1	1,405,744	A	T	false	missense_variant	571	null	null	null	0.001209	missense_variant	missense_variant	184	152,216	ENSG00000242485	0	ENSG00000264293	0	0	ENSG00000242485	missense_variant	ENSG00000242485	1,253	ENSG00000264293	7	7	ENSG00000264293	missense_variant	NA	NA	ATTACAGCTGCTAGCCAGGAACATGGACTGAAGTATCCAGCGCTCATTGGGAATTTAGTTAAGGTATGGGTGAGTATGTGGGTCCCACTGAAATTCTGGACATCTGCAGAAACCATCATGCGGGGCG	TGGTGGTGCTTCCTGTAGTCCCAGCTAATCAGGAGGCTGAGGCCAGAGGATCCCTGGAGACTGACTTCTGGGCTGTAGTTTGCTATGCTGATGGGGTGTCCATGTTAAGTGTGGTATCAATATGGTGA	AGGTGGTGCTTCCTGTAGTCCCAGCTAATCAGGAGGCTGAGGCCAGAGGATCCCTGGAGACTGACTTCTGGGCTGTAGTTTGCTATGCTGATGGGGTGTCCATGTTAAGTGTGGTATCAATATGGTGA	-
1	1,421,814	G	A	false	tss_proximal	1,010	null	null	null	0.125248	intron_variant	PLS	17,286	138,014	ENSG00000235098	44	ENSG00000225905	654	44	ENSG00000235098	tss_proximal	ENSG00000235098	44	ENSG00000225905	1,568	44	ENSG00000235098	tss_proximal	tss_prox:b0	tss_prox:b0	AGGCTGGGGAGGAGGGCAGGGTGAGGTTCTGGCCTTCCTTTCTGTAAATGCTGGACAGGACAAAAGATTCACCAAGGACTCCAGGCAGGTGGCCTGGAAAAGAGGGTGGCGCTGGCATGGGAGGGAC	GAAAACCCTTTGGGGACTGGCTGGGGCAAGTCTGGAGCCAGGGAAGGGACAGATGCCTGGGCAGGTGGGGGCGGGGGTCGGGGGGCAGGCGGGAGAGTGGGGAGAATCCCTGCTAGGGTGCGTCTGCA	AAAAACCCTTTGGGGACTGGCTGGGGCAAGTCTGGAGCCAGGGAAGGGACAGATGCCTGGGCAGGTGGGGGCGGGGGTCGGGGGGCAGGCGGGAGAGTGGGGAGAATCCCTGCTAGGGTGCGTCTGCA	+
1	1,421,814	G	A	false	tss_proximal	1,010	null	null	null	0.125248	intron_variant	PLS	17,286	138,014	ENSG00000235098	44	ENSG00000225905	654	44	ENSG00000235098	tss_proximal	ENSG00000235098	44	ENSG00000225905	1,568	44	ENSG00000235098	tss_proximal	tss_prox:b0	tss_prox:b0	TGCAGACGCACCCTAGCAGGGATTCTCCCCACTCTCCCGCCTGCCCCCCGACCCCCGCCCCCACCTGCCCAGGCATCTGTCCCTTCCCTGGCTCCAGACTTGCCCCAGCCAGTCCCCAAAGGGTTTT	CGTCCCTCCCATGCCAGCGCCACCCTCTTTTCCAGGCCACCTGCCTGGAGTCCTTGGTGAATCTTTTGTCCTGTCCAGCATTTACAGAAAGGAAGGCCAGAACCTCACCCTGCCCTCCTCCCCAGCCT	TGTCCCTCCCATGCCAGCGCCACCCTCTTTTCCAGGCCACCTGCCTGGAGTCCTTGGTGAATCTTTTGTCCTGTCCAGCATTTACAGAAAGGAAGGCCAGAACCTCACCCTGCCCTCCTCCCCAGCCT	-
1	1,482,221	G	A	false	missense_variant	532	null	null	null	0.00138	missense_variant	missense_variant	210	152,122	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,436	ENSG00000160072	1,263	1,263	ENSG00000160072	missense_variant	NA	NA	TGCTGCACTGCATGGTGCTGAGCTGCCCTGCCTCTCTGGGGCAGCCACCGTGGAGCGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGACCGAGGCCCGGGCGCGCGCCAAGGCC	GAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCGTCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCA	AAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCGTCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCA	+
1	1,482,221	G	A	false	missense_variant	532	null	null	null	0.00138	missense_variant	missense_variant	210	152,122	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,436	ENSG00000160072	1,263	1,263	ENSG00000160072	missense_variant	NA	NA	TGCGGGGCTCCATCTGTGGCCGGCCCGGGCCTGGGCAGTGCTCACCTGATGGACTCCAAGACGGTCTGACGGTGCTCGGACGCCTTCAGGCGGATCTGCTCGCGGATGATGTCTGCATTCTCCCGCT	CGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCATCTCCCGCTCCACGGTGGCTGCCCCAGAGAGGCAGGGCAGCTCAGCACCATGCAGTGCAGCA	TGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCATCTCCCGCTCCACGGTGGCTGCCCCAGAGAGGCAGGGCAGCTCAGCACCATGCAGTGCAGCA	-
1	1,482,269	T	G	false	missense_variant	532	null	null	null	0.030307	missense_variant	missense_variant	4,559	150,426	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,484	ENSG00000160072	1,215	1,215	ENSG00000160072	missense_variant	NA	NA	CGTGGAGCGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGACCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCG	TCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCAGGTGTGAGTCGCTGGTCCCAGGGCGCTCTCCAGCTCTTCCAGGCCTGG	GCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCAGGTGTGAGTCGCTGGTCCCAGGGCGCTCTCCAGCTCTTCCAGGCCTGG	+
1	1,482,269	T	G	false	missense_variant	532	null	null	null	0.030307	missense_variant	missense_variant	4,559	150,426	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,484	ENSG00000160072	1,215	1,215	ENSG00000160072	missense_variant	NA	NA	CCAGGCCTGGAAGAGCTGGAGAGCGCCCTGGGACCAGCGACTCACACCTGCGGGGCTCCATCTGTGGCCGGCCCGGGCCTGGGCAGTGCTCACCTGATGGACTCCAAGACGGTCTGACGGTGCTCGG	ACGCCTTCAGGCGGATCTGCTCGCGGATGATGTCTGCATTCTCCCGCTCGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCATCTCCCGCTCCACG	CCGCCTTCAGGCGGATCTGCTCGCGGATGATGTCTGCATTCTCCCGCTCGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCATCTCCCGCTCCACG	-
1	1,482,282	A	G	false	missense_variant	532	null	null	null	0.00256	missense_variant	missense_variant	386	150,794	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,497	ENSG00000160072	1,202	1,202	ENSG00000160072	missense_variant	NA	NA	ATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGACCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCGTCCGAGCACCGTC	AGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCAGGTGTGAGTCGCTGGTCCCAGGGCGCTCTCCAGCTCTTCCAGGCCTGGCCGCCATAGGCTG	GGACCGTCTTGGAGTCCATCAGGTGAGCACTGCCCAGGCCCGGGCCGGCCACAGATGGAGCCCCGCAGGTGTGAGTCGCTGGTCCCAGGGCGCTCTCCAGCTCTTCCAGGCCTGGCCGCCATAGGCTG	+
1	1,482,282	A	G	false	missense_variant	532	null	null	null	0.00256	missense_variant	missense_variant	386	150,794	ENSG00000160072	0	ENSG00000160072	0	0	ENSG00000160072	missense_variant	ENSG00000160072	10,497	ENSG00000160072	1,202	1,202	ENSG00000160072	missense_variant	NA	NA	CAGCCTATGGCGGCCAGGCCTGGAAGAGCTGGAGAGCGCCCTGGGACCAGCGACTCACACCTGCGGGGCTCCATCTGTGGCCGGCCCGGGCCTGGGCAGTGCTCACCTGATGGACTCCAAGACGGTC	TGACGGTGCTCGGACGCCTTCAGGCGGATCTGCTCGCGGATGATGTCTGCATTCTCCCGCTCGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCAT	CGACGGTGCTCGGACGCCTTCAGGCGGATCTGCTCGCGGATGATGTCTGCATTCTCCCGCTCGGCCTTGGCGCGCGCCCGGGCCTCGGTCTCCACTCGCAGCATCTCATTCTTGTGCCGCAGCTCCAT	-
1	1,516,036	T	G	true	missense_variant	520	828,051	C5394137:Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	omim	0	missense_variant	missense_variant	null	null	ENSG00000197785	0	ENSG00000197785	0	0	ENSG00000197785	missense_variant	ENSG00000197785	3,505	ENSG00000197785	1,033	1,033	ENSG00000197785	missense_variant	NA	NA	AGGCGTGGCCGTGGATTCCAGAAAGCCCCTTGGCTGGTGTGCGTGCCTGCCCAGCGGCATCCGTGTATCCTAACACCTGCCCTCCGTGTCCTTGCGTCTGCAGGTTATGCCAAGGACGCCCTGAATC	TGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGTGAGTGGGGCCGGTGTGGGTGGGGAGGCCGGGGCGCACATGGGGTTCGGGCATGGAGATTGGTAGGGCTACTGC	GGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGTGAGTGGGGCCGGTGTGGGTGGGGAGGCCGGGGCGCACATGGGGTTCGGGCATGGAGATTGGTAGGGCTACTGC	+
1	1,516,036	T	G	true	missense_variant	520	828,051	C5394137:Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	omim	0	missense_variant	missense_variant	null	null	ENSG00000197785	0	ENSG00000197785	0	0	ENSG00000197785	missense_variant	ENSG00000197785	3,505	ENSG00000197785	1,033	1,033	ENSG00000197785	missense_variant	NA	NA	GCAGTAGCCCTACCAATCTCCATGCCCGAACCCCATGTGCGCCCCGGCCTCCCCACCCACACCGGCCCCACTCACTTTGAGCTTGGACTGTTGCTCCAACTGCAGCGTCTGCTCCTGCATCTGTGCC	AGATTCAGGGCGTCCTTGGCATAACCTGCAGACGCAAGGACACGGAGGGCAGGTGTTAGGATACACGGATGCCGCTGGGCAGGCACGCACACCAGCCAAGGGGCTTTCTGGAATCCACGGCCACGCCT	CGATTCAGGGCGTCCTTGGCATAACCTGCAGACGCAAGGACACGGAGGGCAGGTGTTAGGATACACGGATGCCGCTGGGCAGGCACGCACACCAGCCAAGGGGCTTTCTGGAATCCACGGCCACGCCT	-
1	1,517,171	G	A	false	missense_variant	573	null	null	null	0.071944	missense_variant	missense_variant	10,685	148,518	ENSG00000197785	0	ENSG00000197785	0	0	ENSG00000197785	missense_variant	ENSG00000197785	4,640	ENSG00000197785	100	100	ENSG00000197785	missense_variant	NA	NA	TCTGCCCTCAGTGCAGTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGC	GGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGC	AGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGC	+
1	1,517,171	G	A	false	missense_variant	573	null	null	null	0.071944	missense_variant	missense_variant	10,685	148,518	ENSG00000197785	0	ENSG00000197785	0	0	ENSG00000197785	missense_variant	ENSG00000197785	4,640	ENSG00000197785	100	100	ENSG00000197785	missense_variant	NA	NA	GCACTCACCAGCTGGCACTTGCTCAGGGCTGGCACTGCCTGACAGCCGCTCCTGTGTCTGCACGGCTCCGGCACGGCAGAGACTCCATGCCCAGACTAGTGTGTGCAGCAGGCTCAGGGCTTCCAGC	CGCATCTGCACCCAGGATCAGGCCCTGGAGGAATCCAGACCCACAGGCACAGAAGCACCAGCAGAAGCCCGCGAAGGCCCCCCGGGAGGGAGGCCGGACACCCCCTTTTGGACTGCACTGAGGGCAGA	TGCATCTGCACCCAGGATCAGGCCCTGGAGGAATCCAGACCCACAGGCACAGAAGCACCAGCAGAAGCCCGCGAAGGCCCCCCGGGAGGGAGGCCGGACACCCCCTTTTGGACTGCACTGAGGGCAGA	-

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evals_mendelian_traits_harness_255

Eval-harness ready variant-effect-prediction benchmark — same matched variants as bolinas-dna/evals_mendelian_traits, with 255 bp reference-genome windows materialized into context / ref_completion / alt_completion columns for direct scoring with autoregressive genomic language models. Each variant emits two rows, one per strand, for FWD+RC averaging during online lm_eval scoring.

Why 255 bp

Models that prepend a <BOS> token see 255 + 1 = 256 tokens of context. The materialized window is intentionally 255 bp so that with BOS the eval input fits a 256-token model context exactly. Other windows can be materialized by re-running the pipeline with a different window_size wildcard.

Why two rows per variant

Per issue #175 conclusion 2, averaging FWD-strand and RC-strand LLR-family scores beats single-strand on most (model, subset) cells. The two-row layout lets the online lm_eval scorer (bolinas.pipelines.evals.lm_eval.dna_vep_llr_eval) compute per-strand LLR per row and average per (chrom, pos, ref, alt) before computing the metric.

Splits

Split	Variants	Rows (2× variants)	Chromosomes
`train`	16,140	32,280	odd: 1, 3, …, X
`test`	9,490	18,980	even: 2, 4, …, Y

Eval-harness columns

In addition to the columns from bolinas-dna/evals_mendelian_traits (with label renamed to target):

Column	Length (255 bp window)	Description
`context`	127 bp	Left flank up to (but not including) the variant position, on the strand named in `strand`.
`ref_completion`	128 bp	Reference allele (in-strand) + right flank.
`alt_completion`	128 bp	Alternate allele (in-strand) + right flank.
`strand`	—	`"+"` (FWD) or `"-"` (RC of the FWD window; ref/alt complemented).
`target`	bool	Binary classification label (renamed from `label`; identical across the two strand rows).

Rows are sorted by (chrom, pos, ref, alt, strand) so per-variant strand pairs are adjacent.

Consumers that don't want RC averaging can filter to a single strand:

ds = load_dataset("bolinas-dna/evals_mendelian_traits_harness_255", split="train")
fwd_only = ds.filter(lambda x: x["strand"] == "+")

Provenance

Built by the bolinas-dna eval pipeline at commit main.

Sequence materialization: src/bolinas/pipelines/evals/materialize.py
Reference genome: GRCh38 dna_sm primary assembly, Ensembl release 115 (sequence is byte-identical to releases 113/114). Loaded directly from s3://oa-bolinas/data/genomes/homo_sapiens/GRCh38/ensembl-release-115/Homo_sapiens.GRCh38.dna_sm.primary_assembly.fa.gz.

For matching scheme, full column documentation, retention, and AUPRC-leak diagnostic, see the companion raw dataset: bolinas-dna/evals_mendelian_traits.

License

Same terms as the raw companion dataset.

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