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
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(490): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAG TTCTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACT AAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCC AGACCTGCAGCCCCAGCACCTGCCCACCTTGGCGTCTCCCATTAAGTCAC ATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACA GCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATA TGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGAC TTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCA GAAGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0107	1	238	0.0042	497	c.98 others(506): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGATTTCAGTTCTATCTTGAAAGATCTCACTTCCAACACACATGCT GTCTAGCAACACTAAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCT TTGTCCACTTCCCAGACCTGCAGCCCCAGCACCTGCCCACCTTGGCGTCT CCCATTAAGTCACATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGA CACTTGAAGTACAGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCA GTTCCAGAAGATATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAA CCATGCACAGGACTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCC CTTGGGCCTTCCAGAAGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCG TGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC9A3_chr5_465456_529449	502907	C C	CGCCGTAA others(490): Show CGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTC ACTACCACTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGT TCCAGTGAAACTTTACCACTCACTACCAGTGAGGCCGAAAGCCGCCGTAA CGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAC TGAGGCCGAAAGCTGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGA AACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCTGTAACGACACAG ATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCG AAAGCTGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTAC CACTCACTACCAGTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGC TGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02896.hp2 others(1): Show HG02257.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0008t0001g0158	4	112	0.0357	497	c.212 others(516): Show c.212-10837_212-10836insAGCTTTCGGCCTCAGTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTT TCGGCCTCACTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCA TCTGTGTCGTTACGGCAGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGT TTCACTGGAACACAGCGCCCATCTGTGTCGTTACAGCGGCTTTCGGCCTC AGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTC GTTACGGCAGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGG AACACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCACTGGTAG TGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGC GGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGC GCCCATCTGTGTCGTTACGGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(490): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGG GGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGA ACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGG GAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	13	0.1538	497	c.34 others(506): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTC CCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
STK32B_chr4_5046480_5505989	5316846	A A	ATACTATA others(490): Show ATACTATATATAATATAATATATAATATATATATACTATATATAATATAA TATATAATATATATATACTATATATAATATAATATATAATATATATATAC TATATATAATATAATATATAATATATATATACTATATATAATATAATATA TAATATATATATACTATATATAATATAATATATAATATATATATACTATA TATAATATAATATATATAGTATATATATACTATATATAATATAATATATT ATATATAGTATATATATACTATATATAATATGATATATTATATATAGTAT ATATATACTATATATAATATATATTATATATAGTATATATATACTATATA TAATATATTATATTATATATAGTATATATATACTATATATATTATATTAT ATATAGTATATATATATTATATATTATATTATATATAGTATATATATATT ATATATTATATTATATATAGTATATATATACTATATATATAATATATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	154	0.0065	497	c.261 others(516): Show c.261-14374_261-14373insTACTATATATAATATAATATATAATA TATATATACTATATATAATATAATATATAATATATATATACTATATATAA TATAATATATAATATATATATACTATATATAATATAATATATAATATATA TATACTATATATAATATAATATATAATATATATATACTATATATAATATA ATATATAATATATATATACTATATATAATATAATATATATAGTATATATA TACTATATATAATATAATATATTATATATAGTATATATATACTATATATA ATATGATATATTATATATAGTATATATATACTATATATAATATATATTAT ATATAGTATATATATACTATATATAATATATTATATTATATATAGTATAT ATATACTATATATATTATATTATATATAGTATATATATATTATATATTAT ATTATATATAGTATATATATATTATATATTATATTATATATAGTATATAT ATACTATATATATAATATATG	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
SUFU_chr10_102498972_102638535	102637648	T T	TGATTATA others(490): Show TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	256	0.0039	497	c.74 others(508): Show c.7493_*7494insGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4114		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(490): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTC TGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTG TACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0077 a0001c0001t0009g0077	1	206	0.0049	497	c.395 others(514): Show c.395-5824_395-5823insAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGG GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGC TGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGA GCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
THEG_chr19_356747_381026	377080	C C	CCTGTGCC others(490): Show CCTGTGCCCCACCCAGCCTCTCCCCGTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCACAGCCTTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCTCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCTCTCTCCCCCCCGT GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	210	0.0048	497	c.-11 others(508): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACGGGGGGGAGAGAGCTGGGTGGGGCACGGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGAGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGT ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTG GGTGGGGCACAGAGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAAGGCTG TGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACACGGGGAGAGGCT GGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(490): Show TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTCTCTCTC CTCTCTCTCTCCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCCTC TCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	19	0.0526	497	c.803 others(514): Show c.803-1579_803-1578insCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCCCTCTCTCCTCTCTCTCCTCTC TCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCT CTCTTCTCTCTCTCCTCTCTCTCTCCTCTCCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCCTCTCCTCTCTCTC TCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTC TCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCTCCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CCCTCCCC others(490): Show CCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCTCCCTCTCCCC TCTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCCTC CCCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCCTCTCCCCTCCCTCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC TCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCC TCTCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTC CCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCT CCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTT CCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0003 a0019c0030t0003	a0019c0030t0003g0105 a0019c0030t0003g0105	1	46	0.0217	497	c.-25 others(516): Show c.-25-12169_-25-12168insCCTCCCCTCTCCCCTCTCCCCTCCCC CTCCCCTCTCCCTCCCTCTCCCCTCTCCCCTCCTCCTCCCCCTCCCCTCC CCCTCCTCCCCCTCCTCCCCCTCCCCTCCCCTCCCCCTCTCCCCTCCCCC TCCCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCT CCCTCTCCCTCTCCCTCCCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCT CCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCT TCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTC TCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCT TCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTC CCCTCCCCTCCCCCTCCCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGTTAG others(490): Show AGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	114	0.0088	497	c.48 others(508): Show c.4818_*4819insCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAA CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(490): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCC CCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTC CTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCT TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	8	0.1250	497	c.657 others(512): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTT CCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870169	A A	ACACACCC others(490): Show ACACACCCCACACACACCACACACCCCACACACACCACACACACCACACA CCCCACACACCCCACACACACCACACACCCTACACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACACACCACACACACCA CACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACACACCACAC ACCCCACACACACCACACACCCTACACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACAACACACCCCACACACACCACACAAACCACATACCACACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACA CCCCACACACACCACACAAACCACACACCCTACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02145.hp2 HG01167.hp1 HG01169.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0331 a0001c0001t0001g0004 a0001c0001t0002g0331	3	307	0.0098	497	c.35 others(516): Show c.35+21452_*35+21453insCACACACCCCACACACACCACACACA CCACACACCCCACACACCCCACACACACCACACACCCTACACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACACACCACA CACACCACACACCCCACACACACCACACAAACCACACACCCTACACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC ACCACACACCCCACACACACCACACACCCTACACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACAACACACCCCACACACACCACACAAACCACATACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACA CACACCACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBTD1_chr10_97493924_97576206	97528724	A A	ACTCCCCC others(490): Show ACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACG GGGCGGCTCGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCAACCTCCCTCCCGGACGGGGCGGCTTGCCTGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	312	0.0032	497	c.70+ others(514): Show c.70+29452_70+29453insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCAACCTCCCTCCCGGACGGGGCGGCTCGCCTGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGGCGG CTTGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGAACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCKL1_chr20_63934829_63961416	63948653	A A	AGGGGGCG others(490): Show AGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTG TGAAGGGAGGGGCGTGTGTGAGAGTGGGGGCGTGTGTGAGTTAGGGGCGT GAGAGGTAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGA GGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGGGAGGGGCG TGTGTGAGAGGGAGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGA GGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAG AGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGAGAGGGAGGGGGCGTGTG TGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGGCGTGTGTGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	265	0.0038	497	c.114 others(514): Show c.114-2011_114-2010insCTCCCTCTCACACACGCCCCCCTCCCTC TCACACACGCCCCTCCCTCACACACGCCCCCTCCCTCTCACGCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CGCCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTGCCTCT CACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CACGCCCCTCCCTCTCACGCCCCCTCCCTCTCACACACGCCCCTCCCTCT CACACACGCCCCTACCTCTCACGCCCCTAACTCACACACGCCCCCACTCT CACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(490): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCAC ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCTC GCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACA TATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTGA CCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACAT ATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGA CCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACAT ATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA19066.hp2 NA18946.hp1 NA19066.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0123 a0005c0009t0139 a0005c0009t0123 a0005c0009t0139	a0005c0009t0123g0178 a0005c0009t0139g0177 a0005c0009t0123g0178 a0005c0009t0139g0177	2	83	0.0241	497	c.87 others(508): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC CAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGA CTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(490): Show TCCTCTCCCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCT CCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0146 a0020c0031t0001g0146	1	33	0.0303	497	c.53- others(510): Show c.53-445_53-444insTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTT CCCCCTCCCTCTCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(490): Show TATATATATTATATATATATATATAATATATATATATTATATATATAATA TATATATATTATATATATATTATATATATATTATATATATATATTATATA TATAATATATATATAATATATATATATTATATATATATTATATATATTAT ATATATTATATATATATTATATATATAATATATATATAATATATATAATA TATATATAATATATATTATATATATAATATATATATATTATATATATAAT ATATATATTTAATATATATATTATATATATAATATATATTATATATATAA TATATATATTTAATATATATTATATATATAATATATATATTATATATATA ATATATATATAATATATATATTATATATATAATATATATATAATATATAT ATTATATATATAATATATATATTATATATATATAATATATATATTTAATA TATATATTATATATATAATATATATTATATATATAATATATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	322	0.0031	497	c.39 others(508): Show c.3902_*3903insTAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATATTATATATATATAATATATAT ATTATATATATAATATATATATTATATATATATTATATATATAATATATA TATTATATATATATTATATATATAATATATATATTATATATATAATATAT ATTAAATATATATATTATATATATAATATATATTATATATATAATATATA TATTAAATATATATATTATATATATAATATATATATATTATATATATAAT ATATATTATATATATATTATATATATTATATATATATTATATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATATATT ATATATATATTATATATATAATATATATATATAATATATATATAATATAT ATATAATATATATATATTATATATATAATATATATATATTATATATATAT ATATAATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
ZFPM2_chr8_105313438_105809539	105380894	A A	ATATAATA others(490): Show ATATAATATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATATATATATAATATAT AATATATATGTTATATATATTATAATATATATAATATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0026 a0008c0014t0004g0026	1	84	0.0119	497	c.41- others(514): Show c.41-38207_41-38206insACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATAATATATATAACATA TAATATATATGTTATATATATTATAATATATATAACATATAATATATATG TTATATATATTATATATATATAATATATAATATATATGTTATATATATTA TAATATATATAATATATAATATATATGTTATATATATTATAATATATATA ATATATAATATATATGTTATATATATTATAATATATAATATATATGTTAT ATATATTATAATATATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105380894	A A	ATATAATA others(490): Show ATATAATATATAATATATATGTTATATATATTATAATATATATAATATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATATATATATAATATAT AATATATATGTTATATATATTATAATATATATAATATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0045 a0003c0004t0004g0050 a0003c0004t0004g0045 a0003c0004t0004g0050	2	85	0.0235	497	c.41- others(514): Show c.41-38207_41-38206insATATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATAATATATATAACATA TAATATATATGTTATATATATTATAATATATATAACATATAATATATATG TTATATATATTATATATATATAATATATAATATATATGTTATATATATTA TAATATATATAATATATAATATATATGTTATATATATTATAATATATATA ATATATAATATATATGTTATATATATTATAATATATAATATATATGTTAT ATATATTATAATATATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(490): Show CATCATATATCACACATATGATATATACATCATATATCACACATATGATA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATATATCATATATCACACATATGATATATATCATATATCACACATATGA TATATATCATACATATCACATATATCATATATATCATACATATCACATAT ATCATATATATCATACATATCACATATATGATATATATCATATATATCAC ATATATCATATATATCACATATATCATATATATCATATATATCACATATA TGATATATATATCATATATATCACATATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19065.hp2 NA19003.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0001 a0002c0002t0001g0013	2	174	0.0115	497	c.-36 others(508): Show c.-3663_-3662insATCATATATCACACATATGATATATACATCATAT ATCACACATATGATATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATATATCATATATCACACATATGATATATATCAT ATATCACACATATGATATATATCATACATATCACATATATCATATATATC ATACATATCACATATATCATATATATCATACATATCACATATATGATATA TATCATATATATCACATATATCATATATATCACATATATCATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(490): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATCATATATATCATATATATCACATATA TGATATATATATCATATATATCACATATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	173	0.0058	497	c.-36 others(508): Show c.-3663_-3662insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATCATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370813	A A	ATATATGA others(490): Show ATATATGATATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATATATCATATATCACACATATGATATATATCATATATC ACACATATGATATATATCATATATCACACATATGATATATATCATACATA TCACATATATCATATATATCATACATATCACATATATGATATATATCATA TATATCACATATATCATATATATCATATATATCACATATATGATATATAT ATCATATATATCACATATATGATATATATATCATATATATCACATATATG ATATATATATCATATATATCACATATATGATATATATATCACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	346	0.0029	497	c.-36 others(508): Show c.-3659_-3658insTATATGATATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATATATCATATATCACACATATGA TATATATCATATATCACACATATGATATATATCATATATCACACATATGA TATATATCATACATATCACATATATCATATATATCATACATATCACATAT ATGATATATATCATATATATCACATATATCATATATATCATATATATCAC ATATATGATATATATATCATATATATCACATATATGATATATATATCATA TATATCACATATATGATATATATATCATATATATCACATATATGATATAT ATATCACATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3555		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(490): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACACATATATACATGTATATATATACGTATATA TACACATATATACATGTATATATATATACGTATATATACATATATACGTA TATATATACGTATATATACATATATACATGTATATATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	212	0.0047	497	c.-42 others(508): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACACATATATACATGTAT ATATATACGTATATATACACATATATACATGTATATATATATACGTATAT ATACATATATACGTATATATATACGTATATATACATATATACATGTATAT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATGTGTATATATACATGTATATATACAT ATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(491): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATCAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTT TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATA TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0265 a0001c0002t0004g0265	1	228	0.0044	498	c.130 others(517): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(491): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02886.hp2 others(2): Show HG01109.hp1 HG02145.hp1 HG02886.hp2 HG03225.hp2 HG03471.hp2	a0006 a0033 a0006 a0033	a0006c0008 a0033c0077 a0006c0008 a0033c0077	a0006c0008t0001 a0033c0077t0001 a0006c0008t0001 a0033c0077t0001	a0006c0008t0001g0256 a0006c0008t0001g0262 a0006c0008t0001g0264 others(2): Show a0006c0008t0001g0256 a0006c0008t0001g0262 a0006c0008t0001g0264 a0006c0008t0001g0265 a0033c0077t0001g0198	5	94	0.0532	498	c.278 others(515): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT AGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACT CATTTATCCATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(491): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATG AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGCT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0001 a0013c0030t0001	a0013c0030t0001g0113 a0013c0030t0001g0113	1	90	0.0111	498	c.278 others(515): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(491): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGA AGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGA GAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGG AAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGA AAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCA GGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGC AGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAA GCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01943.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG01943.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	4	13	0.3077	498	c.-50 others(509): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGA AGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGG AGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGG AAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAG GAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGA GGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAG GGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGA GGGAGGGGGGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(491): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0148 a0001c0002t0004g0148	1	204	0.0049	498	c.259 others(519): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACC CTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(491): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCACC ACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCAT CCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATT CACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0062 a0002c0005t0023g0071 a0002c0005t0023g0062 a0002c0005t0023g0071	2	8	0.2500	498	c.775 others(513): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGAT GGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAA TGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGG GTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(491): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCACC ACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCAT CCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATT CACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG03041.hp1 HG01074.hp1 HG01168.hp2 HG03041.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0010c0031 a0002c0003 a0010c0031	a0002c0003t0008 a0002c0003t0085 a0010c0031t0086 a0002c0003t0008 a0002c0003t0085 a0010c0031t0086	a0002c0003t0008g0105 a0002c0003t0085g0242 a0010c0031t0086g0239 a0002c0003t0008g0105 a0002c0003t0085g0242 a0010c0031t0086g0239	3	9	0.3333	498	c.775 others(513): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGAT GGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAA TGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGG GTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(491): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTGTACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACACGTATATACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACACGTATATACGTATACGTGTACACACACACACACGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	112	0.0089	498	c.48- others(515): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTGTACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAC ACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	391672	G G	GCAGGGCG others(491): Show GCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACAC AGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACAC GGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG GCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGG GGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG GCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	202	0.0050	498	c.351 others(517): Show c.351+15051_351+15052insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGG GCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGG TGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGT GAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(491): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	183	0.0055	498	c.125 others(519): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCT CCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTT CTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCT CCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTT CTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(491): Show GAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCA GGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAG GAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAG GAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGG AGGAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAG GAGCAGAAGCAGAAGCAGAAGCAGCAGAAGCAGCAGAAGCAGAAGCAAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0042 a0002c0011t0001g0042	1	45	0.0222	498	c.667 others(517): Show c.667+88884_667+88885insGTTGCTTCTGCTTCTGCTGCTTCTGC TGCTTCTGCTTCTGCTTCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTG CTCCTGCTCCTCCTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTGCT CCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCC TCCTGCTCCTCCTCCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(491): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGG GGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGG GGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGG GAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02895.hp2 HG02486.hp2 HG02622.hp1 HG02895.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0261 a0006c0009t0001g0228 a0006c0009t0001g0234 a0001c0001t0001g0261 a0006c0009t0001g0228 a0006c0009t0001g0234	3	139	0.0216	498	c.248 others(513): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCC ATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCT CCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTC CCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCT CCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(491): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCC CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0001 a0001c0120t0001	a0001c0120t0001g0131 a0001c0120t0001g0131	1	321	0.0031	498	c.-48 others(515): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCAC CTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCG CACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(491): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGC ACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCC CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0020 a0001c0002t0049g0020	1	321	0.0031	498	c.-48 others(515): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCAC CTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCG CACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(491): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCC CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0003 a0002c0108t0003	a0002c0108t0003g0118 a0002c0108t0003g0118	1	321	0.0031	498	c.-48 others(515): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCAC CTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCG CACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(491): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCC CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0317 a0001c0001t0019g0317	1	321	0.0031	498	c.-48 others(515): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCAC CTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCG CACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(491): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCAC CCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCC CCCGCACTCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	321	0.0031	498	c.-48 others(515): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACC TGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGC ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCCGCACCCCACCTGT CCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7404562	T T	TGATTCTC others(491): Show TGATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGATTACAGGCGCCCACC ACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCAT GTCTCTATTAAAAGGCCTTTTAGATAGATCGTGGAGCTAATCCGACCTGA ACATCCCAGTCCTGGAGTATTTTAGCATGAGGATAGCTCTCTATTGGTCT GGAAGGTTCGCCTGATGGTTGGGCCTGAAGACAGGGGCCTCAGGGACTCT CTTGTAGCTCCTTCAGATGGGTGCTTTTGTTTTGACCAAAAACAGAACAT TCTATACCGTGATCCAATGGGCACACGTACAATAATAGGATGCAAAGTGT TACCAAACCGAACTCACCTTTATTGTGTGCGACAGACTCGGGTGCTTTAT TTTTATTTTTATTTTTTTGAGATGGAGTCTCACTCACCCAGGCTGGAGTG TAATGGCATGATCTTGGCTCACTGCAACCTCTGTGTACTGAGTTTAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 HG02129.hp2 others(1): Show HG00408.hp1 HG02040.hp2 HG02129.hp2 NA18954.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0032 a0005c0008t0002 a0005c0008t0032	a0005c0008t0002g0281 a0005c0008t0002g0282 a0005c0008t0002g0283 others(1): Show a0005c0008t0002g0281 a0005c0008t0002g0282 a0005c0008t0002g0283 a0005c0008t0032g0284	4	296	0.0135	498	c.967 others(517): Show c.967+21397_967+21894dupCAGGCGCCCACCACCACACCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTCTCTATTAAAAG GCCTTTTAGATAGATCGTGGAGCTAATCCGACCTGAACATCCCAGTCCTG GAGTATTTTAGCATGAGGATAGCTCTCTATTGGTCTGGAAGGTTCGCCTG ATGGTTGGGCCTGAAGACAGGGGCCTCAGGGACTCTCTTGTAGCTCCTTC AGATGGGTGCTTTTGTTTTGACCAAAAACAGAACATTCTATACCGTGATC CAATGGGCACACGTACAATAATAGGATGCAAAGTGTTACCAAACCGAACT CACCTTTATTGTGTGCGACAGACTCGGGTGCTTTATTTTTATTTTTATTT TTTTGAGATGGAGTCTCACTCACCCAGGCTGGAGTGTAATGGCATGATCT TGGCTCACTGCAACCTCTGTGTACTGAGTTTAAGAGATTCTCCTGCCTCA GCCTCCCCAGTAACTGGGATTA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(491): Show ACAGGGGCCAGAAGGACCCGGTGCCGACCACACCACACCACAGGGGCCAG AAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGT ACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACAC CATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGA AGGACCTGGTGCCGACACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACACACCACACCACAGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0163 a0002c0005t0003g0163	1	231	0.0043	498	c.460 others(515): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGC ACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCT AGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGT CAGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGT CCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGG TGTGGTCAGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCA CCGGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972018	T T	TAGAAGGA others(491): Show TAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTAGAAGGACCT GGTACTGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACACAC CACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGG ATAGAAGGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGACCTG GTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCTGACCACACC ACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGG GGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGA CCACACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACACCACAC CACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACACCACAGGGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG01258.hp2 others(11): Show HG00438.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02165.hp2 HG02698.hp1 HG03041.hp1 NA18965.hp2 NA18986.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0005 others(3): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0010 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0002c0005t0003 a0002c0009t0013 a0002c0010t0007 a0007c0018t0005	a0001c0001t0001g0185 a0001c0001t0002g0059 a0001c0001t0032g0164 others(10): Show a0001c0001t0001g0185 a0001c0001t0002g0059 a0001c0001t0032g0164 a0001c0002t0002g0087 a0001c0002t0002g0115 a0002c0005t0003g0057 a0002c0005t0003g0058 a0002c0005t0003g0156 a0002c0009t0013g0088 a0002c0010t0007g0005 a0002c0010t0007g0209 a0002c0010t0007g0218 a0007c0018t0005g0199	14	151	0.0927	498	c.460 others(515): Show c.460-6273_460-6272insGGCCCCTGTGGTGTGCTGTGGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCT ATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGT CAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGT CCTTCTGGCCCCTATGAGTGTGGTGTGGTCAGCACCAGGTCCTTCTGGCC CATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGTG GTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAG GTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCA TGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGT GGTCAGCACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(491): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCTCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGG GCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0187 a0003c0003t0001g0301 a0003c0003t0001g0187 a0003c0003t0001g0301	2	215	0.0093	498	c.144 others(515): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCTCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(491): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCTCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGG GCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01346.hp2 others(20): Show HG00099.hp2 HG01106.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG02300.hp2 HG02738.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18950.hp2 NA18954.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1	a0003 a0006 a0011 others(2): Show a0003 a0006 a0011 a0015 a0049	a0003c0003 a0006c0008 a0011c0011 others(2): Show a0003c0003 a0006c0008 a0011c0011 a0015c0016 a0049c0043	a0003c0003t0001 a0006c0008t0001 a0011c0011t0001 others(2): Show a0003c0003t0001 a0006c0008t0001 a0011c0011t0001 a0015c0016t0001 a0049c0043t0001	a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 others(20): Show a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0148 a0003c0003t0001g0159 a0003c0003t0001g0164 a0003c0003t0001g0171 a0003c0003t0001g0178 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0203 a0003c0003t0001g0205 a0006c0008t0001g0154 a0006c0008t0001g0207 a0011c0011t0001g0150 a0011c0011t0001g0175 a0015c0016t0001g0160 a0049c0043t0001g0189	23	236	0.0975	498	c.144 others(515): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCTCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(491): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCTCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGG GCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0213 a0006c0010t0001g0213	1	214	0.0047	498	c.144 others(515): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCTCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(491): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG01109.hp1 HG01255.hp2	a0002 a0025 a0002 a0025	a0002c0002 a0025c0035 a0002c0002 a0025c0035	a0002c0002t0001 a0025c0035t0001 a0002c0002t0001 a0025c0035t0001	a0002c0002t0001g0260 a0025c0035t0001g0004 a0002c0002t0001g0260 a0025c0035t0001g0004	2	249	0.0080	498	c.144 others(515): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(491): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	248	0.0040	498	c.144 others(515): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(491): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0037 a0037	a0037c0033 a0037c0033	a0037c0033t0001 a0037c0033t0001	a0037c0033t0001g0284 a0037c0033t0001g0284	1	248	0.0040	498	c.144 others(515): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(491): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGC AGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19077.hp1 NA18978.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0275 a0002c0002t0001g0278	2	249	0.0080	498	c.144 others(515): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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