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
AGBL4_chr1_48527854_50028954	49680370	T T	TCCTTTCC others(299): Show TCCTTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	97	0.0103	306	c.282 others(325): Show c.282+16942_282+16943insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGGAAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AHNAK2_chr14_104932253_104983374	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0018 a0018	a0018c0134 a0018c0134	a0018c0134t0002 a0018c0134t0002	a0018c0134t0002g0197 a0018c0134t0002g0197	1	172	0.0058	306	c.43 others(317): Show c.4332_*4333insTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCA GCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCGGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCC TCAGCCGCGGGTCCCCTCCCGCCCTCCCCTCACTCAGCCGCGGGTCCCCT CCCGCCCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3522		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0042 a0062 a0042 a0062	a0042c0143 a0062c0125 a0042c0143 a0062c0125	a0042c0143t0002 a0062c0125t0002 a0042c0143t0002 a0062c0125t0002	a0042c0143t0002g0076 a0062c0125t0002g0078 a0042c0143t0002g0076 a0062c0125t0002g0078	2	173	0.0116	306	c.43 others(317): Show c.4332_*4333insTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCA GCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCC TCAGCCGCGGGTCCCCTCCCACCCTCCCCTCACTCAGCCGCGGGTCCCCT CCCGCCCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3522		chr14	TogoVar
AHRR_chr5_316714_443285	318218	C C	CCCCACCC others(299): Show CCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTC CCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTA CCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0112 a0001c0001t0015g0112	1	235	0.0043	306	c.-36 others(317): Show c.-3612_-3611insCCCACCCTCCATCTCCCCCAACCCTGCACCTCCC CCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCT GCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACC TCTCCCCATCTTTTACCTCCCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3495		chr5	TogoVar
AHRR_chr5_316714_443285	415307	G G	GCGGGAGG others(299): Show GCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGG CCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC TGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCTGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	265	0.0038	306	c.441 others(323): Show c.441+1874_441+1875insCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(299): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	195	0.0051	306	c.441 others(323): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(299): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	195	0.0051	306	c.441 others(323): Show c.441+1995_441+1996insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCC TAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415648	C C	CGGGAGGC others(299): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0255	1	255	0.0039	306	c.441 others(323): Show c.441+2264_441+2265insCGAGTCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCC TGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANK3_chr10_60021298_60394875	60365093	T T	TAGATGCT others(299): Show TAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0001 a0004c0044t0001	a0004c0044t0001g0083 a0004c0044t0001g0083	1	187	0.0053	306	c.114 others(325): Show c.114+24331_114+24332insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGAGCATCT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759023	T T	TGGATCGC others(299): Show TGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATC GCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCG GAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGC ACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCTG GGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTG GCAGAGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0302	1	296	0.0034	306	c.181 others(323): Show c.181+2594_181+2595insTCTCTGCCACGTGGGTGCCCCGGGGTGC CACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCAGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTC TGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC GTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGT GCCCCGGGGTGCCACTCCGCAGCGATCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759046	C C	CGGGGCAC others(299): Show CGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCCCGGGGC ACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCAC ATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAG AGAGGATCGCTGCGGAGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGA TCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGC AGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTG GCACCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01106.hp2 others(18): Show HG00642.hp1 HG00735.hp1 HG01106.hp2 HG01884.hp2 HG02040.hp1 HG02109.hp2 HG02258.hp1 HG02293.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0004 a0002c0002t0001 a0005c0005t0018 a0001c0001t0004 a0002c0002t0001 a0005c0005t0018	a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0112 others(18): Show a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0112 a0001c0001t0004g0113 a0002c0002t0001g0115 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0310 a0005c0005t0018g0309	21	343	0.0612	306	c.181 others(323): Show c.181+2571_181+2572insAGGGTGCCACTCCGCAGCGATCCTCTCT GCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCCACGT GGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGC CCCAGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGG GTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCAC TCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCA GCGATCCACTCTGCCACGTGGGTGCCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759265	G G	GGGGCACC others(299): Show GGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGA GAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGAT CGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCA GAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGG CACCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0130 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0328 a0001c0001t0001g0329	5	342	0.0146	306	c.181 others(323): Show c.181+2352_181+2353insTGGGGTGCCACTCCGCAGCGATCCTCTC TGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCCACG TGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTG CCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGG GGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCC ACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTG CGTGATCCACTCTGCCACGTGGGTGCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(299): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01884.hp1 HG00741.hp1 HG01175.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0021 a0002c0001t0001 a0002c0001t0002 a0002c0001t0021	a0002c0001t0001g0289 a0002c0001t0002g0168 a0002c0001t0021g0301 a0002c0001t0001g0289 a0002c0001t0002g0168 a0002c0001t0021g0301	3	209	0.0144	306	c.494 others(321): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGA GGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGAGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	184	0.0054	306	c.838 others(321): Show c.838-851_838-850insGCCTCCCTGCCTTCTCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(299): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGA GGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	100	0.0100	306	c.838 others(321): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350101	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	308	0.0032	306	c.838 others(321): Show c.838-905_838-904insGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(299): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0038 a0003c0004t0001g0038	1	157	0.0064	306	c.838 others(321): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(299): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0288 a0001c0001t0001g0289	2	86	0.0233	306	c.838 others(321): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APOC4_chr19_44937237_44950496	44938496	G G	GTTTTTTT others(299): Show GTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCACTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	111	0.0090	306	c.-37 others(317): Show c.-3782_-3781insTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCG CACTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGACCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGTT	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		3740		chr19	TogoVar
ARHGAP18_chr6_129571132_129715177	129573951	C C	CAAAAATT others(299): Show CAAAAATTAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG00735.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0062 a0001c0009t0001g0122 a0001c0001t0001g0062 a0001c0009t0001g0122	2	174	0.0115	306	c.45 others(317): Show c.4561_*4562insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGTTAATTTTT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding		2180		chr6	TogoVar
ARHGAP26_chr5_142765377_143234007	142975430	T T	TCTGTCTG others(299): Show TCTGTCTGTCTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02622.hp1 others(12): Show HG01069.hp2 HG01071.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0054	a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0006g0084 others(12): Show a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0006g0084 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0012g0114 a0001c0001t0013g0065 a0001c0001t0015g0037 a0001c0001t0016g0024 a0001c0001t0018g0010 a0001c0001t0018g0011 a0001c0001t0026g0097 a0001c0001t0030g0003 a0001c0001t0032g0053 a0001c0001t0054g0082	15	150	0.1000	306	c.110 others(327): Show c.1108-38634_1108-38633insTTTTTTTTTGAGACGGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTGTCTGTCTATTTTT	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP42_chr11_100682288_100998941	100984371	A A	AGATTGTT others(299): Show AGATTGTTGTGATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0061 a0002c0004t0007g0061	1	277	0.0036	306	c.245 others(325): Show c.2457-3126_2457-3125insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGATTGTTGTGATTTTT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1825146	C C	CTCCGCAC others(299): Show CTCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0002 a0002c0078t0002	a0002c0078t0002g0031 a0002c0078t0002g0031	1	334	0.0030	306	c.-48 others(323): Show c.-48+1033_-48+1034insTCCGCACCCCACCTGTCCCTCCGCACCC CACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCC AGCTGTCCCCCCACACCCCACCTGTTCA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825174	C C	CCACCTGT others(299): Show CCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTT ACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCC ACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC TGCACCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0076 a0001c0006t0001g0076	1	291	0.0034	306	c.-48 others(323): Show c.-48+1068_-48+1069insTCACCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTG TTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849893	T T	TGTGGACA others(299): Show TGTGGACACAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGC CGGCTGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp1 HG01943.hp1 HG02293.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0191 a0001c0019t0001g0193 a0001c0019t0001g0191 a0001c0019t0001g0193	2	316	0.0063	306	c.37+ others(321): Show c.37+6467_37+6468insGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221368	T T	TAGATATA others(299): Show TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTA TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATAGACATATATATCTCTATATATATCTATATAGATATA TATAGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	268	0.0037	306	c.670 others(323): Show c.670+3489_670+3490insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATAGACATATATATCTCTA TATATATCTATATAGATATATATAGACA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARMH3_chr10_101840599_102061173	101886349	A A	AAAAAAAC others(299): Show AAAAAAACAAAAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01106.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0109 a0001c0001t0006g0110	2	259	0.0077	306	c.186 others(325): Show c.1860+3062_1860+3063insGTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGGATTTTTGTTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	24/25			chr10	TogoVar
ARNT2_chr15_80399382_80602933	80522844	T T	TAAAAATT others(299): Show TAAAAATTTTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp2 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0136 a0001c0001t0031g0099 a0001c0001t0006g0136 a0001c0001t0031g0099	2	266	0.0075	306	c.877 others(323): Show c.877+8444_877+8445insTTTTTTTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAA	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(299): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGA CAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCG CGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTG GGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCC GCCATAACCCGCCCCGCCCCCCGCCAGGGCCCGCCCCGCCCCCCGCCAGG CCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02602.hp2 others(1): Show HG00639.hp1 HG01884.hp1 HG02602.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0004 a0004c0008t0004 a0001c0001t0004 a0004c0008t0004	a0001c0001t0004g0235 a0004c0008t0004g0021 a0001c0001t0004g0235 a0004c0008t0004g0021	4	154	0.0260	306	c.-28 others(315): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCT CTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCC CCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCG CCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGC CCCGCCCCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGGGCCCGCCCC GCCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(299): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGG AGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGGAGAAAGGAGGGGGAGG GGGGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAG GGAGGGG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	310	0.0032	306	c.479 others(323): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCCTCCCCCTCCTTTCTCCCCC CCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTC TCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCCTCCCTCTCCCTCTCCCT CTCTCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCC CTCTCTCCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTC CGCCTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(299): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGA GAGAGGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGG GAGAGAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGA GGGGGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGA GGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGA GGGGGGAGAGAGGGAGGGTGGGGGGAGGGAGGGAGGGGGAGGGGGGGGAG GGAGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	310	0.0032	306	c.479 others(323): Show c.479-3401_479-3400insCCCCTCCCTCCCCCCCCTCCCCCTCCCT CCCTCCCCCCACCCTCCCTCTCTCCCCCCTCCCCCTCCTTTCTCCCCCCT CCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCC CTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCT CCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCT CTCCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCC TCCCTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(299): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0165 a0001c0002t0010g0165	1	94	0.0106	306	c.207 others(327): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(299): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	5	0.2000	306	c.39+ others(323): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(299): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCCCCACCCC CCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCCCCACCCC CCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCCACCCCCCCAC CCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCACCCCCTACCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCTCC CCCCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0036 a0001c0006t0004g0036	1	5	0.2000	306	c.39+ others(323): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCCACC CCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCACCCCCTACCCCCCACCCCCCCACCTCCCCCCACCCCCC CACCTCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCATTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0005 a0001c0001t0032g0005	1	239	0.0042	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAATGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACAGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0294 a0001c0001t0013g0294	1	239	0.0042	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACTGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACAGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01123.hp2 others(15): Show HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02683.hp1 HG03490.hp1 HG03491.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0008c0011t0006	a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 others(15): Show a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0082 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0027g0307 a0001c0001t0027g0310 a0008c0011t0006g0028	18	256	0.0703	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACTGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0031 a0001c0019t0031	a0001c0019t0031g0062 a0001c0019t0031g0062	1	239	0.0042	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0074 a0001c0001t0006g0074	1	239	0.0042	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(299): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01168.hp2 others(9): Show HG00280.hp1 HG00323.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015	a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 others(9): Show a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0013g0216 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0015g0156 a0001c0001t0015g0163	12	250	0.0480	306	c.61 others(317): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642441	G G	GGTGGGTT others(299): Show GGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCAC GGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTT CCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTC ACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCC TTCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCT TCACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTT CCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0045 a0001c0005t0045	a0001c0005t0045g0278 a0001c0005t0045g0278	1	312	0.0032	306	c.60 others(317): Show c.6046_*6047insGGGAAGGAACGAACAACTCCACACGCGCCACCTT CACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAAGCTA GCGAGACCACGAACCCACCGGAAGGAACGAACAACTCCACACGCGCCACC TTCACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAAGC TAGCGAGACCACGAACCCACCGGAAGGAACGAACAACTCCACACGCGCCA CCTTCACGGCTGTAACACTCACCGTGAAGGTCTGAAGCTTCACTCCTGAA GCTAGCGAGACCACGAACCCAC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3984		chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46627824	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCCTGTCACCA TGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTG GCCAGGATGGTCTTGATCGCCTGACCTTGTGATTTGCCCACCTTGGCCTC CCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCTCTCGGCCGCCCACCC CCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	408	0.0025	306	c.79 others(317): Show c.7951_*7952insGGGTGGGGGGTGGGCGGCCGAGAGCAGTGGCTCA CAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACAAGGT CAGGCGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTAGCCAGGCATGGTGACAGGGGCCTGTAATCCCAGCT ACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCAGAGGTT GCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGA GACTCGGTCTCAAAAAAAAAAA	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding		4912		chr1	TogoVar
AUTS2_chr7_69593475_70798506	70004170	A A	AATATATA others(299): Show AATATATATGAATGTGTTATATGTGAATATATATAATATATATGAATGTG TTATATGTGAATATATATAATATATATGAATGTGTTATATGTGAATATAT ATATTATATATGAATGTGTTATATGTGAATATATATAATATATATGAATG TGTTATATGTGAATATATATAATATATATGAATGTGTTATATGTGAATAT ATATAATATATATGAATGTGTTATATGTGAATATATATATTATATATGAA TGTGTTATATGTGAATATATATAATATGAATGTGTTATATGTGAATATAT ATATTAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	32	0.0313	306	c.522 others(327): Show c.522+104676_522+104677insATATGAATGTGTTATATGTGAATA TATATAATATATATGAATGTGTTATATGTGAATATATATAATATATATGA ATGTGTTATATGTGAATATATATATTATATATGAATGTGTTATATGTGAA TATATATAATATATATGAATGTGTTATATGTGAATATATATAATATATAT GAATGTGTTATATGTGAATATATATAATATATATGAATGTGTTATATGTG AATATATATATTATATATGAATGTGTTATATGTGAATATATATAATATGA ATGTGTTATATGTGAATATATATATTATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83052606	T T	TGAGGTCC others(299): Show TGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCCCACC GTGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCAC CAGGAGGTCCCCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCA CCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCC ACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCC CACCGTGAGGTCCCCCAGAAGGAGGGGTGCCCAGCAGTGAGACCCTGACC CCACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03225.hp2 others(1): Show HG02559.hp1 HG02886.hp1 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 others(1): Show a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146	4	218	0.0183	306	c.-85 others(315): Show c.-856_-855insCTGGTGGGGTCAGGGTCTCACTGCTGGGCACCCCTC CTTCTGGGGGACCTCACGGTGGGGTGAGGGCCTCACTCCTGGGCACCCCT CCTCCTGGAGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCC TCCTCCTGGAGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCC CTCCTCCTGGGGGACCTCCTGGTGGGGTCAGGGTCTCACTCCTGGGCACC CCTCCTTCTGGGGGACCTCACGGTGGGGTGAGGGCCTCACTCCTGGGCAC CCCTCCTCCTGGAGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		837		chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(299): Show TTATATATATTATATATATATTTTTATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATATATATATATTATATATATATATAT ATATTATATATATATTTATATATATATATATTATATATATATTTATATAT ATATATATTATATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0179 a0001c0008t0002g0179	1	163	0.0061	306	c.-2- others(323): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATATATAATATAT ATATATATATATAATATATATATATATATAAATATATATATAATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATTATATAT ATATAAAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BOK_chr2_241553745_241579131	241570418	C C	CGTACGGG others(299): Show CGTACGGGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTGGGT GGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTG GGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGG ATGGGTGACTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	428	0.0023	306	c.513 others(321): Show c.513+158_513+159insCGCCTGAGTGCCCATGTGGGTGGGAGAGCT GGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGCCT CTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACG GGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAC TGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570613	T T	TGGGGGTG others(299): Show TGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGG AATGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGA GCGCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18960.hp2 NA19056.hp2 others(3): Show HG01934.hp2 NA18960.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0006 a0001c0001t0001g0119	6	432	0.0139	306	c.513 others(321): Show c.513+363_513+364insGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGG AGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGC TGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGGTGGGTGAGTG TCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTAC GGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570830	C C	CTCTGAGC others(299): Show CTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTA CGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTG AGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGA CGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGG GTGAGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	393	0.0025	306	c.513 others(321): Show c.513+669_513+670insGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGG AGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCT GGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGT CTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACG GGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(299): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	410	0.0024	306	c.121 others(325): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGC TGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGT TCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC CCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BRF1_chr14_105204286_105306001	105229664	C C	CGTGGCAC others(299): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	67	0.0149	306	c.695 others(321): Show c.695-752_695-751insAGGGCTGTCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar

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