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
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(476): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGTGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA AGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAG ATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGG AGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	12	0.0833	483	c.34 others(492): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCACCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TBCD_chr17_82747065_82950914	82785544	G G	GTGTGACT others(476): Show GTGTGACTGGGACCACTGGATCCCGTCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGG TCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGG GGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGG GAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCAT CGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCCAC CCATCGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATC CCACCCATCGCAGCGGGAGAGGGGTCCGTGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGTCCGTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0008 a0002c0012t0008	a0002c0012t0008g0171 a0002c0012t0008g0171	1	314	0.0032	483	c.771 others(500): Show c.771+3842_771+3843insTCCCGTCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGG GGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGA GGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGC GGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCC ATCGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCC ACCCATCGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGA TCCCACCCATCGCAGCGGGAGAGGGGTCCGTGCTGTGTGACTGGGACCAC TGGACCCGACCCATCGCAGCGGGAGGGGGTCCGTGCTGTGACTGGGACCA CTGGA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1629005	C C	CGGGGTGA others(476): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCAGGAAGGGGACAGCAGAG CTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0336 a0001c0007t0005g0336	1	261	0.0038	483	c.299 others(500): Show c.299-1580_299-1579insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCC TGTGAGCTCTGCTGTCCCCTTCCTGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273309	C C	CACGACCG others(476): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGGACCAACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCA CGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCACCATCCACAGTCACCACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	339	0.0029	483	c.228 others(502): Show c.2287-1030_2287-1029insAGGGTCTGATGTGTGGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(476): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCACCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCTA CGACCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	98	0.0102	483	c.228 others(502): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGT GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(476): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTA TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	206	0.0049	483	c.26 others(494): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGA TAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(476): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	12	0.0833	483	c.22 others(494): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(476): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0161 a0001c0001t0056g0161	1	188	0.0053	483	c.227 others(502): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(476): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0353 a0003c0003t0001g0353	1	408	0.0025	483	c.227 others(502): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM163_chr2_134450759_134724000	134608378	G G	GTGCTGGT others(476): Show GTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTG AAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGAGGACAGACCCCGAGAACTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19068.hp1 NA18959.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0145 a0001c0001t0003g0070 a0001c0001t0003g0145	2	165	0.0121	483	c.323 others(502): Show c.323-56288_323-56287insAAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTC ACCAGCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(476): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAG GGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGG TGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGG GTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGG GCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAG AGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0097 a0001c0002t0003g0097	1	389	0.0026	483	c.305 others(498): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAA CCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCA CCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCT GTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCC ACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCC CCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTG AGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM202_chr15_72393305_72413367	72396670	T T	TCCGGGAG others(476): Show TCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02055.hp1 HG02055.hp2 others(23): Show HG00621.hp2 HG02055.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 NA18939.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18994.hp2 NA19000.hp2 NA19011.hp1 NA19057.hp2 NA19078.hp1 NA19088.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	26	391	0.0665	483	c.-16 others(494): Show c.-1657_-1656insCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1634		chr15	TogoVar
TMEM63C_chr14_77176798_77264495	77220991	C C	CCCCCCTC others(476): Show CCCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTC TCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCC ACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCT TCCCACCCACGCCCCCTCACACTCACGCCTCCCCTCCCACTCTCGCCTCC CCTCCCACTCACGCCCCACCTCCCACTCACGCCTCCCCTCCCACTCACGC CCCGCCTCCCACTCACGCCCCGCCTCCCACTCACGCCCCCCTCCCACCCA CGCCTCCCCTCCCACCCTCGCCTCCCCTCCCACCCTCGCCTCCCCTCCCA CCCTCGCCTCCCCTCCCACCCACGCCCCCCTCCCACTCTCGCCTCCCCTC CCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCC CCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	238	0.0042	483	c.312 others(498): Show c.312+908_312+909insCTCCCACTCTCGCCTCCCCTCCCACTCTCG CCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACT CTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCC CACTCTCGCCTCCCTTCCCACCCACGCCCCCTCACACTCACGCCTCCCCT CCCACTCTCGCCTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCTC CCCTCCCACTCACGCCCCGCCTCCCACTCACGCCCCGCCTCCCACTCACG CCCCCCTCCCACCCACGCCTCCCCTCCCACCCTCGCCTCCCCTCCCACCC TCGCCTCCCCTCCCACCCTCGCCTCCCCTCCCACCCACGCCCCCCTCCCA CTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCT CCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTC CCC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGGT others(476): Show CTGGGGGTTAGGAAGGCTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAG GGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT TAAGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAG GAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	393	0.0025	483	c.49 others(494): Show c.4971_*4972insCCTCCCTAACCCCGGCCTCCTTAACCCCGGCCTC CTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCTTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCC CTGGCCTCCCTAACCCCGGCCTTCCTAACCCCAGCCTTCCTAACCCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(476): Show TTATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATAAAAATTATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAATTATATATATTATATATATATAA AAATTATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	144	0.0069	483	c.28 others(494): Show c.2888_*2889insTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATAAAAATTATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATAAAAATTATATATATATTATATATATAAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAATTATATAT ATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGAGGGA others(476): Show TGGAGGGACATCATAACCTCACCTCGCCAGAGGTGCTGTGGGGGGGTATT ATAACCCCACCTGGCCAGAGGTGCTGGGGGAGTCATAATCCCACCTGGCC AGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGG GCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTT CATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGCT AGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCCATCATA ACTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	250	0.0040	483	c.-31 others(494): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCT AGCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCA GGTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATG AAGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGC CCCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCT GGCCAGGTGGGATTATGACTCCCCCAGCACCTCTGGCCAGGTGGGGTTAT AATACCCCCCCACAGCACCTCTGGCGAGGTGAGGTTATGATGTCCCTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGAGGGA others(476): Show TGGAGGGACATCATAACCTCACCTCGCCAGAGGTGCTGTGGGGGGGTATT ATAACCCCACCTGGCCAGAGGTGCTGGGGGAGTCATAATCCCACCTGGCC AGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGG GCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTT CATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGCT AGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGGCCATCATA ACTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	250	0.0040	483	c.-31 others(494): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGCCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCT AGCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCA GGTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATG AAGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGC CCCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCT GGCCAGGTGGGATTATGACTCCCCCAGCACCTCTGGCCAGGTGGGGTTAT AATACCCCCCCACAGCACCTCTGGCGAGGTGAGGTTATGATGTCCCTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGAGGGA others(476): Show TGGAGGGACATCATAACCTCACCTCGCCAGAGGTGCTGTGGGGGGGTATT ATAACCCCACCTGGCCAGAGGTGCTGGGGGAGTCATAATCCCACCTGGCC AGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGG GGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACT TCATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCAC CTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGC TAGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATA ACTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA18966.hp1 HG04199.hp2 NA18966.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0002 a0005c0012t0002 a0001c0002t0002 a0005c0012t0002	a0001c0002t0002g0017 a0005c0012t0002g0103 a0001c0002t0002g0017 a0005c0012t0002g0103	2	251	0.0080	483	c.-31 others(494): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTA GCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAG GTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATGA AGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCC CCCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCT GGCCAGGTGGGATTATGACTCCCCCAGCACCTCTGGCCAGGTGGGGTTAT AATACCCCCCCACAGCACCTCTGGCGAGGTGAGGTTATGATGTCCCTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TTGGGGAC others(476): Show TTGGGGACTTCATAACCACAGCTGGCCAGAGGTGCCAGGGGGGACATCAT AACCCCACCTGGCCTGAGGTGCCGGGGGGGCCATCATAACCACACCTGGC CAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGG GGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACT TCATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCAC CTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGC TAGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATA ACTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	250	0.0040	483	c.-31 others(494): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTA GCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAG GTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATGA AGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCC CCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTG GCCAGGTGTGGTTATGATGGCCCCCCCGGCACCTCAGGCCAGGTGGGGTT ATGATGTCCCCCCTGGCACCTCTGGCCAGCTGTGGTTATGAAGTCCCCA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
ULK1_chr12_131889622_131928150	131917118	T T	TGGGGCTC others(476): Show TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGG GGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGG GACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCG GAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0034	483	c.218 others(498): Show c.2182+60_2182+61insCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCG GAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACG GGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(476): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTC CCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0235 a0003c0003t0018g0235	1	33	0.0303	483	c.53- others(496): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCC TCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCT CCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCT CCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCT C	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(476): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA20300.hp1 HG01169.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0004 a0002c0002t0001 a0005c0005t0004	a0002c0002t0001g0075 a0005c0005t0004g0116 a0002c0002t0001g0075 a0005c0005t0004g0116	2	34	0.0588	483	c.53- others(496): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCT C	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(476): Show GCCTCCCTCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	177	0.0056	483	c.483 others(498): Show c.483+335_483+336insTCCTTCCCTCCTCCCTCCCTCCTTCCCTCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCC TCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(476): Show GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTG AGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	128	0.0078	483	c.427 others(502): Show c.4270-2470_4270-2469insGCAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTG AGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(476): Show ATATATAATATATATATATTATATATATATATAATATATATATATTATAT ATATAATATATATATATTATATATATATATAATATATATAATATATATAT AATATATATATATTATATATATATTATATATATTATATATATTATATATA TATTATATATATATTATATATATATAATATATATAATATATATATAATAT ATATTATATATATAATATATATATATTATATATATAATATATATATTTAA TATATATATTATATATATAATATATATTATATATATAATATATATATTTA ATATATATTATATATATAATATATATATTATATATATAATATATATATAA TATATATATTATATATATAATATATATATTATATATATATAATATATATA TTTAATATATATATTATATATATAATATATATTATATATATAATATATAT ATTTAATATATATTATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0001 a0003c0045t0001	a0003c0045t0001g0153 a0003c0045t0001g0153	1	147	0.0068	483	c.38 others(494): Show c.3884_*3885insAATATATATATTATATATATAATATATATTAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTAAA TATATATATTATATATATATAATATATATATTATATATATAATATATATA TTATATATATATTATATATATAATATATATATTATATATATAATATATAT TAAATATATATATTATATATATAATATATATTATATATATAATATATATA TTAAATATATATATTATATATATAATATATATATATTATATATATAATAT ATATTATATATATATTATATATATTATATATATATAATATATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATATATT ATATATATATTATATATATTATATATATATATAATATATATATATTATAT ATATAATATATATATATTATATATATATATAATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(476): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGGTATATATGATATATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATATATGTCACATATATCATATGTGATATATGTCACATATATCATAT GTGATATATGTCACATATATCACATGTGATATATATCATATATATCATAT ATATGATATATATCATATATATCATATATATGATATATATCATATATATC ATATATATGATATATATCATATATCATATATATGATATATATCACATATA TATATCATATATATCACATATATATCATATATATCATATATATATCATAT ATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	483	c.-34 others(494): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGGTATATATGATATATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATATATGTCACATATATCATATGTGATATATG TCACATATATCATATGTGATATATGTCACATATATCACATGTGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATGATA TATATCATATATATCATATATATGATATATATCATATATCATATATATGA TATATATCACATATATATATCATATATATCACATATATATCATATATATC ATATATATATCATATATATGATATATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF532_chr18_58859877_58991480	58942320	C C	CCCCTCCC others(476): Show CCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTTTCTCTTTTC TTCTTTCCTTTCCTCCCTCCCTCTCTCCCTCCCTCCCTCCTTCCCTCCTT CCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTTTTCTACCCCCGCC CCCCCTCAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCT CAGCTCACTGCAAGCTCCACCTCCCGAGTTCAAGCCATTCTCCTGCCTCA GCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAAT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCTGGCCCCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	295	0.0034	483	c.270 others(502): Show c.2705+2727_2705+2728insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTTTCTCTTTTCTTCTT TCCTTTCCTCCCTCCCTCTCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTT CCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTTTTCTACCCCCGCCCCCCC TCAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCT CACTGCAAGCTCCACCTCCCGAGTTCAAGCCATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA ACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCTGGCCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCT	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(477): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATA AATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	219	0.0046	484	c.130 others(503): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTT ATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(477): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0127 a0001c0001t0013g0127	1	219	0.0046	484	c.130 others(503): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGAT ATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(477): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGTA GGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGGTCACAGGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAG GGCTCACAGGGTCAGAGGGAGGGTTCGGGAAGGGGCTGGGGGAGGGGTCA CAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGACTCACAGGGT CAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	297	0.0034	484	c.156 others(503): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCTCGAACCCTCCCT CTGACCCTGTGACCCCTCCCCCAGCCCCTTCCCGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCGCTCTGACCCTGTGA CCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTT CCGGAACCCTACCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCG CTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(477): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGTA GGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGGTCACAGGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAG GGCTCACAGGGTCAGAGGGAGGGTTCGGGAAGGGGCTGGGGGAGGGGTCA CAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGACTCACAGGGT CAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp1 HG01978.hp1 others(6): Show HG00323.hp2 HG01358.hp1 HG01978.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG03098.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0001t0057 a0001c0001t0074	a0001c0001t0001g0072 a0001c0001t0002g0083 a0001c0001t0003g0059 others(6): Show a0001c0001t0001g0072 a0001c0001t0002g0083 a0001c0001t0003g0059 a0001c0001t0006g0218 a0001c0001t0008g0023 a0001c0001t0011g0166 a0001c0001t0031g0242 a0001c0001t0057g0074 a0001c0001t0074g0155	9	305	0.0295	484	c.156 others(503): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCTCGAACCCTCCCT CTGACCCTGTGACCCCTCCCCCAGCCCCTTCCCGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCGCTCTGACCCTGTGA CCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTT CCGGAACCCTACCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCG CTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(477): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGTA GGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGGTCACAGGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAG GGCTCACAGGGTCAGAGGGAGGGTTCGGGAAGGGGCTGGGGGAGGGGTCA CAGGGTCAGAGGGAGGGTTCGGGAAGGGGCTGGGGGAGGACTCACAGGGT CAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	297	0.0034	484	c.156 others(503): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCCCGAACCCTCCCT CTGACCCTGTGACCCCTCCCCCAGCCCCTTCCCGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCGCTCTGACCCTGTGA CCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTT CCGGAACCCTACCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCG CTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATATA others(477): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	484	c.-10 others(495): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(477): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGGAGG AGGGGGGGGAGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAG GAGGGGGAGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	183	0.0055	484	c.125 others(505): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTC CCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTCCT CCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCC TCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCT GCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCC TCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCC CCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(477): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGGAGGAGGAGGAGGAGGAGGAGAAGGGGGAGG AGAAGGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGG AGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGA GGAGGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGGAGGAGGAGGGGGGG AGGAGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGACGGG GGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGAG GGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	183	0.0055	484	c.125 others(505): Show c.1252-13406_1252-13405insTCCCCTCCTCCTCCTCCCCTCCTC CTCCTCCTCCCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCCT CCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCC TCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCCCCCCCCTCCTCCC CCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCC CTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTC CTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCC CCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AMPH_chr7_38378704_38636373	38570996	A A	ATAGAATA others(477): Show ATAGAATATATATTTATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATTTATATATATAGAATATATAT ATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTTA TATATATAGAATATATATATAGAATATATATTTATATATATAGAATATAT TTATAGAATATATATTTATATATATAGAATATATTTATAGAATATATATT TATATATATAGAATATATATATAGAATATATATTTATATATATAGAATAT ATATATAGAATATATATTTATATATATAGAATATATATATAGAATATATA TATAGAATATATATATAGAATATATATATAGAATATATATATAGAATATA TATATTCAATATATATATATATTCATATATATAGAATATATATATTCATA TATTGAATATATATAGAATATATATATTCATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	243	0.0041	484	c.70- others(501): Show c.70-35986_70-35985insATATATGAATATATATATTCTATATATA TTCAATATATGAATATATATATTCTATATATATGAATATATATATATATT GAATATATATATTCTATATATATATTCTATATATATATTCTATATATATA TTCTATATATATATTCTATATATATATTCTATATATATAAATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATAAATATATTCTATATATATAAATATATAT TCTATAAATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATATT CTATATATATAAATATATATTCTATATATATATTCTATATATAAATATAT ATTCTA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(477): Show GTATTTATACATATATGTATAAATACGTATTTATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAA ATACATACATATTTATACATATATGTATACATACATATTTATACATATAT ATGTATAAATACATACATATTTATACATATATATGTATAAATACGTACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATATGT ATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTT ATACATATATATGTATAAATACGTACATATTTATACATATATATGTATAA ATACGTACATATTTATACATATATATGTATAAATACGTACATATTTATAC ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATAT ACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0043 a0001c0001t0096g0043	1	209	0.0048	484	c.39 others(493): Show c.393_*394insGTATTTATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1849982	A A	ATGGACAC others(477): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	260	0.0038	484	c.37+ others(499): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7451066	C C	CTTTCCGT others(477): Show CTTTCCGTTTCCGAGATGTTAATGTGGATCTTGCTTTCCGTTTCCGAGAT GTTAATACGGGATCTTGCTGTCCGTTTCCGAGATGTTAATGTGGGATCTT GCTGTCCATTTCCAAGATGTTAATTGTGGATCTTGCTTTCCGTTTCCGAG ATGTTAATGCGGGATCTTGCTTTCCGTTTCCGAGATGTTAATGTGGATCT TGCTTTCCGTTTCCGAGATGTTAATATGGGAACTTGCTGTCCGTTTCCAA GATGTTAATGTGGGATCTTGCTGTCCATTTCCGAGATGTTAATGTGGGAT CTTGCTGTCCATTTCCAAGATGTTAATGTGGATCTTGCTTTCCATTTCCG AGATGTTAATGCGGGATCTTGCTTTCCGTTTCCGTTTCCGAGATGTTAAT ATGGGATCTTGCTGTCCGTTTCCGAGATGTTAATGTGGATCTTGCTTTCC ATTTCCCAGATGTTAATGCGGGATCTTGCTTTCCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 NA19000.hp1 HG03704.hp1 HG03834.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0001c0021 a0002c0036 a0001c0019 a0001c0021 a0002c0036	a0001c0019t0006 a0001c0021t0006 a0002c0036t0006 a0001c0019t0006 a0001c0021t0006 a0002c0036t0006	a0001c0019t0006g0230 a0001c0021t0006g0089 a0002c0036t0006g0185 a0001c0019t0006g0230 a0001c0021t0006g0089 a0002c0036t0006g0185	3	296	0.0101	484	c.173 others(499): Show c.1738-82_1738-81insTTCCGTTTCCGAGATGTTAATGTGGATCTT GCTTTCCGTTTCCGAGATGTTAATACGGGATCTTGCTGTCCGTTTCCGAG ATGTTAATGTGGGATCTTGCTGTCCATTTCCAAGATGTTAATTGTGGATC TTGCTTTCCGTTTCCGAGATGTTAATGCGGGATCTTGCTTTCCGTTTCCG AGATGTTAATGTGGATCTTGCTTTCCGTTTCCGAGATGTTAATATGGGAA CTTGCTGTCCGTTTCCAAGATGTTAATGTGGGATCTTGCTGTCCATTTCC GAGATGTTAATGTGGGATCTTGCTGTCCATTTCCAAGATGTTAATGTGGA TCTTGCTTTCCATTTCCGAGATGTTAATGCGGGATCTTGCTTTCCGTTTC CGTTTCCGAGATGTTAATATGGGATCTTGCTGTCCGTTTCCGAGATGTTA ATGTGGATCTTGCTTTCCATTTCCCAGATGTTAATGCGGGATCTTGCTTT CCGT	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP10B_chr5_160558120_160857211	160652904	T T	TGTATTGC others(477): Show TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTG TACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTA TTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATT GTACATACGTGTACAATGTATTGCATATAGATTGTACATACGTGTACATA CAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCAT ATAGATTGTACATACGTGTACATACAATGTATTGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0048 a0018c0019t0048	a0018c0019t0048g0113 a0018c0019t0048g0113	1	228	0.0044	484	c.676 others(501): Show c.676-3649_676-3648insGCAATACATTGTATGTACACGTATGTAC AATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAA TACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATA TGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGT ATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATG TACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATG CAATAC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(477): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACAGATCTGTATACAGATGTATA CAGATCTGTATACAGATGTATACAGATCTGTATAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01258.hp1 others(3): Show HG00733.hp1 HG01256.hp1 HG01258.hp1 HG01952.hp2 HG02647.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0246 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0003g0159 a0001c0001t0003g0248	6	238	0.0252	484	c.366 others(501): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAG ATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGT ATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGT ATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTAT ACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCGGC others(477): Show GCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGA GGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0036 a0004c0029t0036	a0004c0029t0036g0199 a0004c0029t0036g0199	1	136	0.0074	484	c.49 others(495): Show c.4946_*4947insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCA AGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGC AGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCC GGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCG CAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(477): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGC GAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAA GGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCTGAGGGGGAAGGAT CTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGACAT GAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	64	0.0156	484	c.-21 others(501): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAG ATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGC CTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCTCAGATCCTT CGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGAGCCTCCCC TTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCT CAGAGCTTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGA TCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGCC TTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(477): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG02451.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	254	0.0079	484	c.193 others(501): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACAACCACACC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACACTCACATACAGA CACAACCACACCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACACACTCACATACAGACACAAC CACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(477): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACACTCACATACAGACACAACCACACCACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02683.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG02683.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007	4	256	0.0156	484	c.193 others(501): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACTCACATACAGACACAAC CACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(477): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	253	0.0040	484	c.193 others(501): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACACTCACATACAGA CACAACCACACCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACACACTCACATACAGACACAAC CACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(477): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0292 a0001c0006t0001g0292	1	291	0.0034	484	c.-22 others(501): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT CTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(477): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCCACCC CTCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCC CCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCC CTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCC CCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA CCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCCT GCGCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCC CCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCAC CCCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0177 a0001c0012t0001g0177	1	241	0.0041	484	c.326 others(501): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGG CGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGG GGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGG GGCCGAGGGGTGGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGG AGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTG AGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909387	C C	CCCCTCCG others(477): Show CCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCC GCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCT CACCTTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCC TCACCTTCCGCCTCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCC CTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGC CCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCA TCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCC TCCGCCCCTCACCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTCCGCC CCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0114 a0001c0027t0002g0114	1	317	0.0032	484	c.326 others(501): Show c.3260+662_3260+663insTGAGGGGCGGAGGGGTGGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGTGAG GGGCGGAGGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC GGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGG GTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGG GGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGG AAGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGGT GGGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGGGGGCG GAAGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGC GAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGC GGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(477): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACACATGCATACATATACACATGCACACAATGTACACACAT GCACGCACACATGCACACACACATGCATACATATACACATGCACACAATG TACACACATGCACGCACACATGCACACACACATGCATACATATACACATG CACACAATGTACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(22): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01952.hp1 HG01981.hp2 HG02129.hp2 HG02165.hp1 HG02293.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp1 NA18979.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19065.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0019 a0001c0001t0001 a0001c0001t0013 a0001c0001t0019	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0013g0002 a0001c0001t0019g0061	25	211	0.1185	484	c.380 others(501): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATG CATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGT ATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTG TGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTG TACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGT GCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCA TGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar

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