Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRAPPC12_chr2_3374694_3484565	3437414	A A	GATTAATC others(921): Show GATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATT AATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCAC CCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAG GATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTA ATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACC CCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCC TGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGAT TAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGTTTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCC ATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCCATCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0038 a0002c0009t0003g0038	1	279	0.0036	928	c.141 others(947): Show c.1418-6366_1418-6365insGATTAATCCCCCCACCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAAT ACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATT AATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCAT CACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCC CTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGG ATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAAT CCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAAT CCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TG	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(921): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAG GGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA AGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0155 a0001c0001t0011g0155	1	113	0.0088	928	c.53 others(939): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC CCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCC CTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCTTTAC TCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTTCCTT CCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
VCX_chrX_7838171_7849143	7844242	G G	GGGGAGGG others(921): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	277	0.0036	928	c.22 others(937): Show c.226_*227insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		100		chrX	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(921): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCACCATC ACCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGTCAC TACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCA GCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACC AGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCAT CATTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCA CCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTC ATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACC CACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCA CCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCACCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19082.hp1 NA20805.hp1 HG02145.hp1 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0151 a0001c0003t0001g0179 a0001c0003t0001g0135 a0001c0003t0001g0151 a0001c0003t0001g0179	3	23	0.1304	928	c.127 others(945): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACCACTGTC ATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTAT CACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC ACCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCAC CACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCA CCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACT ATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTAC TGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCT CTATACCCACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTC ATCACCAGCACCACCACCATTATCACCAGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCA TCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCA CTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACC ATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAG CACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(921): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCACCATC ACCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGTCAC TACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCA GCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACC AGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCAT CATTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCA CCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTC ATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACC CACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCA CCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0068	1	21	0.0476	928	c.127 others(945): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACCACTGTC ATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTAT CACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC ACCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCAC CACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCA CCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACT ATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTAC TGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCT CTATACCCACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTC ATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCA TCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCA CTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACC ATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAG CACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ALDH16A1_chr19_49448225_49476050	49461467	G G	GGAGTCTG others(922): Show GGAGTCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAAGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGACGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGT CTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGA GCTGGGACCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCT GGACTCCTGGATCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTC TGGACTCCTGAGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	339	0.0029	929	c.578 others(944): Show c.578-151_578-150insAGTCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGAC TCCTGGGTCTGAAGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAC GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCT GGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGCCTGGACTCCTGGATCTGAGGGAGGAGGGGCTGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGTCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(922): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCCGCGGGTATCTGGGGGCGTCCGCGGGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGG GGCGTCTGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCG GGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGTG GGGGCTCCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTCCG CGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	21	0.0476	929	c.539 others(944): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGGAGCCCC CACACCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCG CGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCC CCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCAGACGCC CCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGCC CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATA CCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAG CCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGA TACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGG AGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCACA CCCCCCGCGGACGCCCCCAGATACCCGCGGGGAGCCCCCACACCCCCGCA GACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972295	G G	GGTACTGA others(922): Show GGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCAC AGGGGATAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAA GGACCTGGTGCCGACCACAGCACACCACAGGGGCCAGAAGGACCTGGTGC TGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCAC ACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGATA GAAGGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGACCTGGTG CCGACACACCACACCATGGGCCAGAAGGACCTGGTGCTGACCACACCACA CTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGC CAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCA CACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACACCACACCAC AGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAA GGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCA CACCACAGGGGATAGAAGGACCCAGTACTGACCACACCACACCACAGGGG CTAGAAGGACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACC CAGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACC ACACCACACCACAGGGGATAGAAGGACCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0093 a0002c0009t0003g0093	1	256	0.0039	929	c.460 others(946): Show c.460-6550_460-6549insTGGGTCCTTCTATCCCCTGTGGTGTGGT GTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTAC TGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT AGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCCCTGTGG TGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGT CGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGT CCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCC CTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCCCTGTGGTGTGG TGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTC TGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTATG AGTGTGGTGTGGTCAGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTC GGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCAGTACCAGGTCCT TCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATG GTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGT CAGCACCAGGTCCTTCTGGCCCCTGTGGTGTGCTGTGGTCGGCACCAGGT CCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGG TGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTA C	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(922): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACCGTCAGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGG CGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGC GGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0008 a0008c0005t0008	a0008c0005t0008g0258 a0008c0005t0008g0258	1	103	0.0097	929	c.300 others(946): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACCGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGG G	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(922): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0252 a0002c0015t0004g0252	1	240	0.0042	929	c.-22 others(946): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTC G	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(922): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAG AGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGA TAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGG GTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTA CTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAAT ATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCA GGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTA TAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	13	0.0769	929	c.109 others(948): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGG GGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGT ACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAA TATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGG GCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAG TTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATAT GAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGG GGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATA GAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTDP1_chr18_79674803_79759503	79685009	G G	GGTGCAGG others(922): Show GGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCCGCGGTGCTCCTT ACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCT ACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAG GATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGCT CCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGT CTCTACTCCCAGTTTCTCTGCGGTGCTCCTTACGGGGTGTGAGGTCCTGG TGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGG TGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCT CGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGG TCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCT CTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGG ACCTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGCTCCTTACAGGGTGT GAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCAGT TTCTCTGCGGTGCTCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTG CAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGG GGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTAC TCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGA TCAGTGCAGGGACCTCGTGGTCTCTACTCCCAGTTTCTCTGCGGTGCCCC TTACGGAGTGTGAGGTCCTGGTGAGGATCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	257	0.0039	929	c.314 others(946): Show c.314+4771_314+4772insGTCCCGGTTTCTCCGCGGTGCTCCTTAC GGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAC TCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGA TCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGCTCC TTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCT CTACTCCCAGTTTCTCTGCGGTGCTCCTTACGGGGTGTGAGGTCCTGGTG AGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTG CTCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCG TGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTC CTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCT GCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGAC CTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGCTCCTTACAGGGTGTGA GGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCAGTTT CTCTGCGGTGCTCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCA GGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGGG TGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTC CCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATC AGTGCAGGGACCTCGTGGTCTCTACTCCCAGTTTCTCTGCGGTGCCCCTT ACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCT A	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DLGAP2_chr8_732628_1713476	1164213	C C	CGTCGTTT others(922): Show CGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTGTCG TTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCCGTCATTTTG GTTTGTGGGGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTG GTTTGTGGGGACTGATTGGGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCG GATAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGCTTTGTGGGGA TTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATT TTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTC TGTGAGCCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCT GTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGC CCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCA GGGCCCATCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGG GCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCCG TCATTTTGGTTTGTGGGGATTTTTCTGTGAGTCCCCCCAGGGCCCGTCAT TTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGT TTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATCGTTTTGGTTT GTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTAATGTTTTGGTTTGTGGG GACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGG ACAGATTTTTCTGTGAGCCCCCCAGGGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0013 a0002c0001t0005g0029 a0002c0001t0002g0013 a0002c0001t0005g0029	2	28	0.0714	929	c.74- others(946): Show c.74-94635_74-94634insGTTTTGGTTTGTGGGGATTTTTCTGTGA GCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCC CCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCC CCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGGGAGCCCCCCAGGG TTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGCCCGT CATTTTGCTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTT GGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGG TTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTT TGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCCGTCATTTTGGTTT GTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGT GGGGATTTTTCTGTGAGCCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGA TTTTTCTGTGAGCCCCCAGGGCCCATCATTTTGGTTTGTGGGGACAGATT TTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTG TGAGCCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGT CCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCC AGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAG GGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCT AATGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTG TCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGT C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM240C_chr2_241888988_241905464	241896601	A A	AGGGGTGT others(922): Show AGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGGTGTGGGTGTTGGGGTG TGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTT GGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGGTGTGGGTGTGGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGGTGTGGGTGTGGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGG GGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGAGGGGGTGTGGG TGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTG TTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTG TGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTG GGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGG GGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAGGGGGTGTGGG TGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGG TGTGGGTGAGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGGGTGTTGGGGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	2	0.5000	929	c.161 others(944): Show c.161+584_161+585insAACACACACACCCCAACACCCACACCCCTT CACCCACACCCCAACACCCACACCCCAACACCCACACCCCCTCACCCACA CCCCAACACCCACACCCCCACACCCACACCCCCACACCCACACCCCCACA CCCACACCCCCTCACCCACACCCCAACACCCACACCCCCACACCCACACC CCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCCACACC CACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACACCCC AACACCCACACCCCTTCACCCACACCCCAACACCCACACCCCAACACCCA CACCCCCACACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAA CACCCACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCACA CCCCAACACCCACACCCCCACACCCACACCCCCACACCCACACCCCCACA CCCACACCCCCTCACCCACACCCCAACACCCACACCCCTTCACCCACACC CCAACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACC CACACCCCCACACCCACACCCCCTTCACCCACACCCCAACACCCACACCC CCTTCACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACC CACACCCCCACACCCACACCCCCTTCACCCACACCCCAACACCCACACCC CCTTCACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACC CACACCCCTTCACCCACACCCCAACACCCACACCCCTTCACCCACACCCC AACACCCACACCCCTTCACCCACACCCCAACACCCACACCCCAACACCCA CACCCCAACACCCACACCCCCTTCACCCACACCCCAACACCCACACCCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(922): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACGCCACACCACACAACGTGCCACACACCAGTCCACACCAAACCA CACACCACACACCACACATCACTCCACACCCCAAACACACCACACACCAC TCCACACACACCACACACCACTCCACACCAAACCACACCACTCCACACCA AACCACACCATGACACACCAAACCACACCACACACATCACACCACACCAC ACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACA CCACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCA CACACACCAAACCACACCACACCACTCCACACACTTCACACCAAACCACA CACCCCACCACACACACTCCACACCAAACCACATCACACCACACCACTCC ACACCATACACATCACATACCACACCACACACTGCTCCACACAACACATC GCACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACA CACACCACGGCACACACCACATACCACACTCCACACCAAACCACACCACA CCATATACCACACCACACCACACACCACTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03225.hp1 HG02055.hp2 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257	3	12	0.2500	929	c.310 others(944): Show c.310-949_310-948insAAGTGGTGTGTGGTGTGGTGTGGTATATGG TGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTG TGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGC GATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGT GGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTG TGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTTTGGTGTGTG TGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTGG TGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGT GTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGTGTGGTT TGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGGA GTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTG TGGTTTGGTGTGGACTGGTGTGTGGCACGTTGTGTGGTGTGGCGTGGTGT GGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGTGTG GTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTGTGT GGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGA GTGGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGT TGTGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTG TGTGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGG TTTGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(922): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATAATATATAATATATATATTATATAAAATATATAAT ATATATCTTATATATATCATATATTTTATATAATATATATTTTATATATA TCATATATTTTATATATAATATATATTATATATACATTATATAATATATA TTATATTATATATATTATATATTATATAATATATATTATATATTATACGT AATATATAATGTATATTATATATAATATATTATGTATATAATGTATATTA TATGTAATATACATTATATATAATGTATATTATATATAATATACATTATA TATAATGTATATTACATATAATATACATTGTATATAATGTATATATTACA TATAATATACATTGTATATAATGTATATATTACATATAATATACATTATA TATAATGTATATTATATGTAATATATACATTACATACAATGTATATTATA TGTAATATATACATTACATATAATGTATATTATATGTAATATATACATTA CATATAATGTATATTATATGTAATATATACATTACATATAATGTATATTA TATGTAATATATACATTACATAATGTATATTATATGTAATATATACATTA CATAATGTATATTATATGTAATATATACATTACATAATGTATATTATATG TAATATATACATTACATAATGTATATTATATGTAATATATACATTACATA ATGTATACATTGTATATAATGTATATTATATATAATATATACATTGTATA TAATGTATATTATATATAATATATACATTGTATATAATGTATATTATATA TAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0053 a0001c0001t0020g0053	1	132	0.0076	929	c.94- others(942): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATAATATATAATATATATAT TATATAAAATATATAATATATATCTTATATATATCATATATTTTATATAA TATATATTTTATATATATCATATATTTTATATATAATATATATTATATAT ACATTATATAATATATATTATATTATATATATTATATATTATATAATATA TATTATATATTATACGTAATATATAATGTATATTATATATAATATATTAT GTATATAATGTATATTATATGTAATATACATTATATATAATGTATATTAT ATATAATATACATTATATATAATGTATATTACATATAATATACATTGTAT ATAATGTATATATTACATATAATATACATTGTATATAATGTATATATTAC ATATAATATACATTATATATAATGTATATTATATGTAATATATACATTAC ATACAATGTATATTATATGTAATATATACATTACATATAATGTATATTAT ATGTAATATATACATTACATATAATGTATATTATATGTAATATATACATT ACATATAATGTATATTATATGTAATATATACATTACATAATGTATATTAT ATGTAATATATACATTACATAATGTATATTATATGTAATATATACATTAC ATAATGTATATTATATGTAATATATACATTACATAATGTATATTATATGT AATATATACATTACATAATGTATACATTGTATATAATGTATATTATATAT AATATATACATTGTATATAATGTATATTATATATAATATATACATTGTAT ATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(922): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATAATATATAATATATATATTATATAAAATATATAAT ATATATCTTATATATATCATATATTTTATATAATATATATTTTATATATA TCATATATTTTATATATAATATATATTATATATACATTATATAATATATA TTATATTATATATATTATATATTATATAATATATATTATATATTATACGT AATATATAATGTATATTATATATAATATATTATGTATATAATGTATATTA TATGTAATATACATTATATATAATGTATATTATATATAATATACATTATA TATAATGTATATTACATATAATATACATTGTATATAATGTATATATTACA TATAATATACATTGTATATAATGTATATATTACATATAATATACATTATA TATAATGTATATTATATGTAATATATACATTATATACAATGTATATTATA TGTAATATATACATTACATATAATGTATATTATATGTAATATATACATTA CATATAATGTATATTATATGTAATATATACATTACATATAATGTATATTA TATGTAATATATACATTACATAATGTATATTATATGTAATATATACATTA CATAATGTATATTATATGTAATATATACATTACATAATGTATATTATATG TAATATATACATTACATAATGTATATTATATGTAATATATACATTATATA ATATATACATTGTATATAATGTATATTATATATAATATATACATTGTATA TAATGTATATTATATATAATATATACATTGTATATAATGTATATTATATA TAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0054 a0001c0001t0020g0054	1	132	0.0076	929	c.94- others(942): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATAATATATAATATATATAT TATATAAAATATATAATATATATCTTATATATATCATATATTTTATATAA TATATATTTTATATATATCATATATTTTATATATAATATATATTATATAT ACATTATATAATATATATTATATTATATATATTATATATTATATAATATA TATTATATATTATACGTAATATATAATGTATATTATATATAATATATTAT GTATATAATGTATATTATATGTAATATACATTATATATAATGTATATTAT ATATAATATACATTATATATAATGTATATTACATATAATATACATTGTAT ATAATGTATATATTACATATAATATACATTGTATATAATGTATATATTAC ATATAATATACATTATATATAATGTATATTATATGTAATATATACATTAT ATACAATGTATATTATATGTAATATATACATTACATATAATGTATATTAT ATGTAATATATACATTACATATAATGTATATTATATGTAATATATACATT ACATATAATGTATATTATATGTAATATATACATTACATAATGTATATTAT ATGTAATATATACATTACATAATGTATATTATATGTAATATATACATTAC ATAATGTATATTATATGTAATATATACATTACATAATGTATATTATATGT AATATATACATTATATAATATATACATTGTATATAATGTATATTATATAT AATATATACATTGTATATAATGTATATTATATATAATATATACATTGTAT ATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(922): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0032	1	145	0.0069	929	c.369 others(946): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG G	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQSEC3_chr12_61767_183455	163229	C C	CCCCTCCC others(922): Show CCCCTCCCCTCCCCTCCCTCCACAGAACGGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCG GACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0202 a0001c0004t0011g0202	1	272	0.0037	929	c.258 others(946): Show c.2584-238_2584-237insGGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC CTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA C	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163229	C C	CCCCTCCC others(922): Show CCCCTCCCCTCCCCTCCCTCCACAGAACGGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCG GACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0164 a0002c0001t0011g0164	1	272	0.0037	929	c.258 others(946): Show c.2584-238_2584-237insGGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC CTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA C	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KANK1_chr9_499695_751103	514222	T T	TCCTCTCT others(922): Show TCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT CCCTCCCTCCCTCCCTTCCTCTCCTCCCTCCCTTCCTCTCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCC TCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0082 a0018c0017t0001g0082	1	206	0.0049	929	c.-84 others(946): Show c.-84+9472_-84+9473insTCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCCTCCCTCCCT TCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCC CTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT C	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322945	C C	CATATATA others(922): Show CATATATATACATATTTATATACATTTATATACATATTTATATATACATT TATATATACATTTATATATACATATTTATATATATTTATATATATTTATA GATATATATTTATAGATATATATTTATATATATTTATTTATATTTATATA TATATTTATATATATTTATTTATATTTATATTTATATTTATATTTATTTA TATTTATATATATTTATATATTTATATATATTTATATATATTTATATATA TTTATATATATATTTACATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTATT TATTTATATATATTTATATTTATTTATATTTATATATTAATATATATATA TTTATATTTATATATATTTATATTTATATATATTTATATTTATATTTATA TATATTTATATTTATATATATTTATATACATATATTTATATATATATTTA TATATATTTATATACATATATTTATACATATATTTATATATATATTTATA TACATATATTTATACATATATTTATATACATATATTTATATATATATTTA TATATATATTTATATACATATATTTATATATATATATTTATATACATATA TTTATATATTTATATATATTTATATATATTCATATTTATATTTATATATA TTTATATATATATTTATATTTATATATATATTTATATTTAATTATATTTT ATATATATTTATATATATATTTATATTTGTATATATTTATATATATGTAT ATTTATATATATTTATATATTTATATATTTATATTTATATATATCTATAT ATTTATATATATTTATATATTTATATTTATATATATTTATATATTTATAT ATATTTATATATTTATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	235	0.0043	929	c.174 others(948): Show c.1749-3822_1749-3821insATATACATATTTATATACATTTATAT ACATATTTATATATACATTTATATATACATTTATATATACATATTTATAT ATATTTATATATATTTATAGATATATATTTATAGATATATATTTATATAT ATTTATTTATATTTATATATATATTTATATATATTTATTTATATTTATAT TTATATTTATATTTATTTATATTTATATATATTTATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTACATATTTATATATAT TTATATATATTTATATATATATTTATATATATTTATATTTATATATTTAT ATATATTTATATTTCTATTTATTTATATATATTTATATTTATTTATATTT ATATATTAATATATATATATTTATATTTATATATATTTATATTTATATAT ATTTATATTTATATTTATATATATTTATATTTATATATATTTATATACAT ATATTTATATATATATTTATATATATTTATATACATATATTTATACATAT ATTTATATATATATTTATATACATATATTTATACATATATTTATATACAT ATATTTATATATATATTTATATATATATTTATATACATATATTTATATAT ATATATTTATATACATATATTTATATATTTATATATATTTATATATATTC ATATTTATATTTATATATATTTATATATATATTTATATTTATATATATAT TTATATTTAATTATATTTTATATATATTTATATATATATTTATATTTGTA TATATTTATATATATGTATATTTATATATATTTATATATTTATATATTTA TATTTATATATATCTATATATTTATATATATTTATATATTTATATTTATA TATATTTATATATTTATATATATTTATATATTTATATTTATATATATTTA TAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KRTAP4-6_chr17_41134433_41145544	41144157	T T	TTTTTCTT others(922): Show TTTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCA ATAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAAGGAGACCAGAG CTTTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTT TTCAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTG GATGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTT CAGGCAGCGGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAG GTCCAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATACATGAAAAG ACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAG GAGTAATTGGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTA CTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCAT TTCTGACAATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGG TCCTGCCCCCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGA CCATGGTCCACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCA TTCCTTTGCTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGC TGGTAATTGCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCC TCTTAACCTGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGT GGAATGGATATTATCATTTAAACTATAAACTAAATTCCTCCCCCAGGTTA GCTTGGCCCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTT GGTTCAATCAGATCTCTTCCACTGTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	401	0.0025	929	c.-36 others(940): Show c.-3671_-3670insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTAAATGATAATATCCATTCCACAA AACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGAT GAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCCA CTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGGG TGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCCT TGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCAG CTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATGC AAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAGT GATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTGC AGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTTT TCATGTATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGT GACTCTTGACTCAGCTGGTCCTGCCCCCACCGACCCCCGCTGCCTGAAGC AAACTCAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACA ACCAATCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAAC TCTAACCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCT GGTCTCCTTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCA ATTCCCCTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAAA	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		3614		chr17	TogoVar
LRRC27_chr10_132327193_132386508	132364652	A A	ACTTACAC others(922): Show ACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACACT TACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTA CATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCACACCCA CACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCACACCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCACACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCC ACACTTACACCCACCCACACTTACACCCACACTTACATCTACCACACCCA CACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACA CTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0278 a0001c0001t0047g0278	1	252	0.0040	929	c.129 others(946): Show c.1290-766_1290-765insCCCACCCTTACATCTACCACACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCA CACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTA CATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACACTTA CATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACA TCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC A	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(922): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGAGGGGAAGGGGGGAAGGGGGGAAAGGGGTGAGGGGAGGATGGAG GGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAG AGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAG AGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGG GAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG AGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	213	0.0047	929	c.250 others(944): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCATCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC CTCCATCCTCCCCTCACCCCTTTCCCCCCTTCCCCCCTTCCCCTCACCCC TTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCCGCCCC TTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTT CTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370364	G G	GCTACCCC others(922): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	341	0.0029	929	c.-8+ others(942): Show c.-8+134_-8+135insGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGG GGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(922): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0100 a0001c0002t0011g0100	1	30	0.0333	929	c.433 others(946): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG G	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(922): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC CCCTCCCCCCCTCCCCTTCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCTCCCCCTTCCCCTTCCC TCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	30	0.0333	929	c.433 others(946): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGGA GAGGGAAGGGGAAGGGGGAGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGAAGGGGAGGGGGGGAG GGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG G	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841393	C C	CGGAGAGC others(922): Show CGGAGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCCGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCAT CTCATGCCGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACCCGCG AGCAGGTCCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATG CCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCCGA CCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCG AGCAGGTCCACCCTGACCACAGCGCATCTCACATGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCCTGACCACGGCGCATCTCACACG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0089	1	186	0.0054	929	c.361 others(948): Show c.361-15316_361-15315insCGTGTGAGATGCGCCGTGGTCAGGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACC TGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCT GTGGTCGGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGGACC TGCTCGCGGGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCGGCA TGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCC GGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTC TCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(922): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGA GCAGGTCCCCCTGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACACGGGCAAGCAGGTCCCCCCTGACCACGGCG CATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCAT CTCACACGGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACAGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCATCTCAC ACCCGCGAGCAGGTCCCCCCTGACCACGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0066 a0001c0001t0012g0066	1	209	0.0048	929	c.361 others(948): Show c.361-15343_361-15342insTCCGTGGTCAGGGGGGACCTGCTCGC GGGTGTGAGATGCTCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCTGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCTCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGA GATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCGTGTGAGATGCTCCGTG GTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGAC CTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGT GTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGC CGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(922): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTGTGTGGGGCATGTGTGTGGTG TATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCATGGTGTG TATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGGCCATGTG TGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTG TATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGTAGT GTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTATGGTAT GTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTGGTGTATG TGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATGGTGTGTG TGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATGTGTGTGG TGTATGTGGCATGCACGGGATGTGTGGTGTGTGTGTGGTGTGTATTGTGT GGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTGGTGTGGGAGG CAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTTGTGTATGTGG TGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTGGTGTGTATGG TGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp1 HG01109.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0259 a0002c0002t0002g0260	2	158	0.0127	929	c.671 others(946): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACACCACACATCCCGTGCATGCCACATA CACCACACACATGCCCCCTGCACCACACACACCACACACCACATACACAA CACACACACCATACATAGCACACACACACCACCACATATCCTGTGCATGC CACATACACCACACACATGCCTCCCACACCACACACCACATACATGACAC ACATACCATACACACCACACACCACATACACAACACACACAACACACCAT ACACTACACCACACACACCACACACCACATACACAACACACACCACGCCA TACACACCACACACACAACACCACACATCCCGTGCATGCCACATACACCA CACACATGGCCCCCACACCACACACCACATACACCACACACACCACACCA TACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCCACA TACACCACACACATGCCCCACACACACCACACACATGCACCACATATACC CCCTACACCACACACACACAGAACACACCACACACCCCATACATGCCACA TACACCACACTCACTCCATGCACATGCCCCCCACGCTACACACACACACT ACACCACACACCTCATACATGCCACCCACACCACACACACACCATACATA CCACACACACCACACCATACACACCACATACACGCCACGCATGCCATACA CACCACACACTCCCGCACACCACATACACACCCCTCACACTACACATGCC A	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PGAP6_chr16_365788_386978	370364	G G	GCTACCCC others(922): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	326	0.0031	929	c.16 others(940): Show c.1622_*1623insGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAG AGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGG TAGGGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		423		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(922): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGGAGAGAAAAGGAGAGGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGGAGAGGG GGAGAGGTGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAG GGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGA GGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGC AAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGA GAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGA GAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGA GAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGA GAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGA GAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGA GAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0128 a0004c0005t0001g0128	1	24	0.0417	929	c.371 others(946): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTC TCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCC TCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCCTCCCC CTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCACCTCT CCCCCTCTCCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCTTCTCTCCCCCTCTCCCCCCTCTCCTTTTCTCTCCCCCCTCT CTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCT CCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTC TCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTC CCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCC C	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(922): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAG TCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACA GGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGC ACCACACTTACTAACAGTCGTCTTCACGGGCGACCTTGCACCACACTAAC AGTCGCCTTCACAAGCGACCGTGCACCACACTTACTAACAGTCGTCTTCA CAGGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	71	0.0141	929	c.-39 others(940): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCTGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCTTGTGAAGGCGACTGTTA GTGTGGTGCAAGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCAC GGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCTGTG AAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGT TAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTG GTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGT GAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT AAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTG TGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0047 a0001c0002t0007g0047	1	42	0.0238	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCT ATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTC CTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTT TTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTT CCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCT CTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCT GCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTT CTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0290 a0001c0008t0004g0290	1	42	0.0238	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCT ATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTC CTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTT TTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTT CCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCT CTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCT GCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTT CTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp2 others(15): Show HG00323.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01257.hp2 HG01433.hp2 HG01978.hp2 HG01981.hp2 HG02683.hp2 HG02818.hp1 HG03490.hp2 HG04115.hp1 NA18943.hp2 NA18986.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(2): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0001c0004t0006 a0001c0004t0053 a0001c0007t0013 a0001c0007t0064 a0001c0008t0001 a0001c0008t0004 a0001c0008t0046 a0002c0006t0001	a0001c0002t0001g0150 a0001c0002t0001g0209 a0001c0002t0002g0058 others(15): Show a0001c0002t0001g0150 a0001c0002t0001g0209 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0005g0201 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0019g0033 a0001c0004t0006g0046 a0001c0004t0006g0061 a0001c0004t0053g0263 a0001c0007t0013g0250 a0001c0007t0064g0313 a0001c0008t0001g0196 a0001c0008t0004g0179 a0001c0008t0004g0180 a0001c0008t0046g0096 a0002c0006t0001g0298	18	59	0.3051	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18962.hp2 NA18982.hp1 HG02132.hp2 NA18962.hp2 NA18982.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0020 a0001c0002 a0012c0020	a0001c0002t0001 a0001c0002t0002 a0012c0020t0001 a0001c0002t0001 a0001c0002t0002 a0012c0020t0001	a0001c0002t0001g0143 a0001c0002t0002g0111 a0012c0020t0001g0303 a0001c0002t0001g0143 a0001c0002t0002g0111 a0012c0020t0001g0303	3	44	0.0682	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0016 a0002c0010t0016	a0002c0010t0016g0036 a0002c0010t0016g0036	1	42	0.0238	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCT TTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18977.hp1 NA19009.hp2 HG00558.hp2 NA18977.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0195 a0001c0002t0001g0283 a0001c0002t0001g0285	3	44	0.0682	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0236 a0002c0006t0001g0236	1	42	0.0238	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCT TTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SIGIRR_chr11_400716_419999	402342	C C	CGGCCCCG others(922): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCG GCCCCGCTCACCCCGACCCCGCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	202	0.0050	929	c.35 others(940): Show c.3553_*3554insCGGGGTGAGCGGGGTCGGGGTGAGCGGGGCCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGC GGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGG GTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTGAGC GGGTCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGT CCCGGGGTGAGCGGGGCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGTCG GGGTGAGCGGGTCCCGGGGTGAGCGGGGCGGGGGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3373		chr11	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(922): Show ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATAAATATATATATAAATATATAAAAATATATATAAATATATAT ATAAATATATATAAAAATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATAAATATATATAAAT ATATATATAAATATATAAAAATATATATAAATATATATAAATATATAAAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATATAAATATATAAAAATATATATAAATATATATAAATATATATAT AAATATATATAAATATATATAAATATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATAAATGTATATATAAATATATATATAAATATAT ATAAATATATATAACTATATATATAAATATATATATAAATATATATAAAT ATATATAACTATATATAAATATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATAAAAAATA TATATAAATATATAAATATATAAAAAATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATAAAAAATATATATATATAAAAATATA TATAAATATATAAAAATATATTTATATATATAAATATATTTATATATAAA TATAAATATATATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	28	0.0357	929	c.-50 others(940): Show c.-5060_-5059insTATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATAAATATATATATAAATATATAAAAATA TATATAAATATATATATAAATATATATAAAAATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TAAATATATATAAATATATATATAAATATATAAAAATATATATAAATATA TATAAATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATAAAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATGTATATATAAATA TATATATAAATATATATAAATATATATAACTATATATATAAATATATATA TAAATATATATAAATATATATAACTATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATAAAAAATATATATAAATATATAAATATATAAAAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATAAAAAATATAT ATATATAAAAATATATATAAATATATAAAAATATATTTATATATATAAAT ATATTTATATATAAATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418444	C C	CGTTTCCT others(922): Show CGTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCC CTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTC CTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCATTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTC CCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCGTTTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTC CTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTC CTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCT TCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCC TTCCCTCCCTCCCTTTCCTTCCATTCCTTCCCTCCCTCTCTTTCCTTCCA TTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTGGCCTTTCCTTCCATT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0081 a0005c0010t0002g0081	1	46	0.0217	929	c.215 others(946): Show c.2154+306_2154+307insGTTTCCTTCCCTCCCTCCGTTTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCC TCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCC ATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCC TCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCC TCCCTCCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT GGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT CCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTC CCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTT CCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCATTCCTT CCCTCCCTCTCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTC CGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCAT T	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(922): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTA AGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0041 a0002c0002t0007g0041	1	76	0.0132	929	c.46 others(940): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(922): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTA AGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	76	0.0132	929	c.46 others(940): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69076789	C C	CCTGCCCT others(922): Show CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATG TCCCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTC CTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCAC CTGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCGTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGT CCCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCC TGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACC TGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTC CCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCT GCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCC CTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCC CTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTG CCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTG CCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCCACCTG CCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTG CCCTCCTGCCCTCCTGCCATGTCCCTCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01123.hp2 HG00099.hp1 HG00323.hp1 HG01123.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102	3	379	0.0079	929	c.123 others(948): Show c.1231-1456_1231-1455insATGTCCCTCCACCTGCCCTCGTGCCA TGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTCCCTCCACTTGCCC TCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACCTGCCCTCCTGCTGT GTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCAC GTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTCCCTCCACTTGCCCT CCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATG TCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTC CTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTC CTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGT CTGTCCACTTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCC TGCCATGTCCCTCCAGCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCC TGCCCTCGTGCCATGTCCCTCCACTTGCCCTCCTGCCCTCATGCCATGTC CCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCT GCCATGCCCCTCCACCTGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCT GCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCT GCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204371	T T	TATGATGA others(922): Show TATGATGATATACTATATCATCATATGATGATATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0013 a0001c0001t0059g0013	1	173	0.0058	929	c.41- others(946): Show c.41-49126_41-49125insGATGATATACTATATCATCATATGATGA TATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA T	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(923): Show TTTATATATTTATATATTTATAGATAAATATATAAATATATAAATATATA TATATTTATAGATAAATATATAAATATATAAATATATATATATTTATAGA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATAGA TATATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGA TAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTATA TATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATA AATATTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAGTATTTTTATATTTATAGATAAACGTATAAGTATTTTTA TATTTATAGATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19087.hp1 HG00438.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0010 a0001c0006t0002 a0001c0005t0010 a0001c0006t0002	a0001c0005t0010g0208 a0001c0006t0002g0216 a0001c0005t0010g0208 a0001c0006t0002g0216	2	287	0.0070	930	c.130 others(949): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATCTAT AAATATAAAAATACTTATACGTTTATCTATAAATATAAAAATACTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAA ATATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTAT AAATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATAC GTTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAAAT ATATATCTATATATTTATATATTTATCTATAAATATATATATATTTATAT ATTTATCTATAAATATATATATATTTATATATTTATATATTTATCTATAA ATATATATATATTTATATATTTATATATTTATCTATAAATATATAAATAT ATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(923): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTA TATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGATA AATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TATAAATATTTATAGATAAATATATAAATATATAAATATATAAATATTTA TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0275 a0001c0002t0003g0275	1	201	0.0050	930	c.130 others(949): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATATATTTATCTATAAATAT TTATATATTTATATATTTATCTATAAATATATAAATATTTATATATTTAT ATATTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATATATTT ATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar

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