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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(484): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTA CACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTA CACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTC CCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCT CCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCC CCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00735.hp1 others(27): Show HG00423.hp1 HG00423.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01346.hp2 HG01496.hp1 HG02074.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG03239.hp1 HG03688.hp2 NA18906.hp1 NA18945.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18999.hp2 NA19007.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0002c0003 a0002c0006 a0002c0011 a0002c0021 a0003c0014	a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 others(27): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 a0001c0001t0049 a0001c0001t0061 a0001c0001t0062 a0001c0001t0066 a0001c0001t0070 a0001c0001t0081 a0001c0001t0089 a0001c0001t0098 a0001c0002t0001 a0001c0002t0054 a0001c0002t0071 a0001c0002t0079 a0001c0004t0001 a0001c0004t0005 a0001c0005t0030 a0001c0005t0034 a0001c0007t0048 a0001c0009t0045 a0001c0010t0056 a0001c0013t0005 a0002c0003t0126 a0002c0003t0131 a0002c0006t0004 a0002c0006t0035 a0002c0011t0095 a0002c0021t0001 a0003c0014t0009	a0001c0001t0004g0210 a0001c0001t0018g0181 a0001c0001t0021g0172 others(27): Show a0001c0001t0004g0210 a0001c0001t0018g0181 a0001c0001t0021g0172 a0001c0001t0049g0202 a0001c0001t0061g0151 a0001c0001t0062g0215 a0001c0001t0066g0038 a0001c0001t0070g0057 a0001c0001t0081g0145 a0001c0001t0089g0081 a0001c0001t0098g0051 a0001c0002t0001g0211 a0001c0002t0054g0052 a0001c0002t0071g0155 a0001c0002t0079g0029 a0001c0004t0001g0025 a0001c0004t0005g0139 a0001c0005t0030g0196 a0001c0005t0034g0198 a0001c0007t0048g0101 a0001c0009t0045g0200 a0001c0010t0056g0018 a0001c0013t0005g0036 a0002c0003t0126g0171 a0002c0003t0131g0131 a0002c0006t0004g0087 a0002c0006t0035g0034 a0002c0011t0095g0059 a0002c0021t0001g0098 a0003c0014t0009g0142	30	39	0.7692	491	c.80+ others(508): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTC CCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTC CCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTC CTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCC ACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCC CTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCC CTTCCCATCCCCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACA others(484): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGAGGTGGGATGACCTCTTTCTTT GGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCT TTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACAT CTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGA TGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAG GTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGC AGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGGG GCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCT TTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	262	0.0038	491	c.55 others(502): Show c.5500_*5501insGATGACATCTTTCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGAGGTGGG ATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTG GGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGG CAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTT TGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTC TTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGAT GACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGG ATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTG GGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGG TAGGTGA		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4002		chr12	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGG others(484): Show GGGGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCG GCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGG CCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCTCG GCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGG CGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGC GGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0012 a0011c0020t0012	a0011c0020t0012g0029 a0011c0020t0012g0029	1	28	0.0357	491	c.72+ others(502): Show c.72+49_72+50insGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCG GCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGG GGGGCGG		RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(484): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGGACAGGGCGGGAGG GGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0084 a0008c0010t0003g0084	1	20	0.0500	491	c.351 others(510): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCCTCCCGCCCTGTCCCC TCTCGCCCTGTCCCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(484): Show CATATATATATATTCCATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCCTATATATATATTCCCTA TATATATATTCCCTATATATATATTCCCTATATATATATTCCATATATAT ATATTCCCTATATATATATTCCATATATATATATTCCCTATATATATATT CCATATATATATATTCCCTATATATATATTCCCTATATATATATTCCATA TATATATATTCCATATATATATTCCATATATATATATTCCATATATATAT ATTTCATATATATATATTCCATATATATATTCCATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATATATATATTCCATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0108	1	39	0.0256	491	c.115 others(508): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATAGGGAATATATATAT AGGGAATATATATATAGGGAATATATATATAGGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(484): Show CTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTC CCTCTCCCCCTCCCATTTTCTTCCCCCTCCTGGTTTCTCCCCTCTACCTC CCTCTCCCCCCACCTGTTTTCTCCCTTCTCCCTCCCTCCTTCCTCCCCTT TTCTCCCCACTCCCTCCCTCTCCCCCTTCTGGTTTCTCCCCTCTCCCTCC CTCTCCCCACCGTCCTGTTTTCTCCCCCTCCCTCCTTCTCCCCCTCCCGT TTTCTCCCTCCTCCCTCCTTCTCCCCTCCCGGTGTCTCCCCTCTCCCCCT CCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCT TCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCT CCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCC CTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	183	0.0055	491	c.248 others(508): Show c.248-1211_248-1210insATTTTCTTCCCCCTCCTGGTTTCTCCCC TCTACCTCCCTCTCCCCCCACCTGTTTTCTCCCTTCTCCCTCCCTCCTTC CTCCCCTTTTCTCCCCACTCCCTCCCTCTCCCCCTTCTGGTTTCTCCCCT CTCCCTCCCTCTCCCCACCGTCCTGTTTTCTCCCCCTCCCTCCTTCTCCC CCTCCCGTTTTCTCCCTCCTCCCTCCTTCTCCCCTCCCGGTGTCTCCCCT CTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCTGGTTTC TCCCCTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTC TCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGG TTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCT TCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCC CTCTCCCCCTCCC		SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(484): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGC CCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCC GGCAGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	249	0.0040	491	c.173 others(510): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAA CCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGG GAGGGAGGTGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(484): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCC GGCAGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	249	0.0040	491	c.173 others(510): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAAC CCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGG GAGGGAGGTGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(484): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCC GGCAGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	249	0.0040	491	c.173 others(510): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAAC CCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGG GAGGGAGGTGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(484): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTAT CTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAG AGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCT GCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATG AGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGG ACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGC AGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGA CAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCA GGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	238	0.0042	491	c.98 others(500): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATTTCAGTTCTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAG CAACACTAAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCC ACTTCCCAGACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATT AAGTCACATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTG AAGTACAGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCA GAAGATATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGC ACAGGACTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGG CCTTCCAGAAGCAGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAA TGGCT		SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding					336		chr9	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(484): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGC GCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGG GTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGG GGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0334 a0001c0001t0022g0334	1	283	0.0035	491	c.-12 others(502): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCT TCACCCG		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding					1064		chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(484): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATATTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATTATATTTTATAATATATAAAATATTATATTTT ATAATATATAAAATATTATATTTTATAATATATAAAATATATTATATTTT ATAATATATAAAATATATTATATTTTATAATATATAATATATATTATATT TTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	161	0.0062	491	c.17 others(510): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATTATATATTATATAT TATAATATATAATATATTATATATTATAATATATAATATATTATATATTA TAAAATATAATATATTATATATTATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATATTATAAT ATATAATATATATTATATATTATAAAATATAATATATATTATATATTATA ATATAAAATATGATA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(484): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATTATATTTTATAATATATAAAATATTATATTTT ATAATATATAAAATATTATATTTTATAATATATAAAATATATTATATTTT ATAATATATAAAATATATTATATTTTATAATATATAATATATATTATATT TTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	161	0.0062	491	c.17 others(510): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATTATATATTATATAT TATAATATATAATATATTATATATTATAATATATAATATATTATATATTA TAAAATATAATATATTATATATTATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATATTATAAA ATATAATATATATTATATATTATAAAATATAATATATATTATATATTATA ATATAAAATATGATA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(484): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAAAATATATTATATATTATAG AATATAATATATAATATATTATATATTATAGAATATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATATTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	286	0.0035	491	c.17 others(510): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTTTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAACA TAATATATATTATAG		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(484): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	210	0.0048	491	c.12+ others(506): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTT TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCK3_chr4_166728384_167239494	167109048	A A	AAAAATAT others(484): Show AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAAT ATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATAT ATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAA ATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTAT ATATAAATATATATAAATATATATTTATATATAAATATATATAAATATAT ATTTATATAAAAATATATATAAATATTATATATTTATATAAAAATATATA TAAATATTATATATTTATATAAAAATATATATAAATATTATATATTTATA TAAAAATATATATAAATATTATATATTTATATAAAATATATATAAATATT ATATATTTATATAAAATATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	134	0.0075	491	c.190 others(510): Show c.190-46512_190-46511insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTATATAAATATATAATA TTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTATAT AAATATATAATATTTATATATATTTTTATATAAATATATAATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTATATATAAATATATAT TTATATATATTTATATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATAT ATTTATATATATTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109048	A A	AAAAATAT others(484): Show AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATGAATATATATTTATATAAAAATATATATGAAT ATATATTTATATAAAAATATATATGAATATATATTTATATAAAAATATAT ATGAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAA ATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTAT ATATAAATATATATAAATATATATTTATATATAAATATATATAAATATAT ATTTATATAAAAATATATATAAATATTATATATTTATATAAAAATATATA TAAATATTATATATTTATATAAAAATATATATAAATATTATATATTTATA TAAAAATATATATAAATATTATATATTTATATAAAATATATATAAATATT ATATATTTATATAAAATATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	491	c.190 others(510): Show c.190-46512_190-46511insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTATATAAATATATAATA TTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTATAT AAATATATAATATTTATATATATTTTTATATAAATATATAATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTATATATAAATATATAT TTATATATATTTATATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTCATATATATTTTTATATAAATATATATTCATATATAT TTTTATATAAATATATATTCATATATATTTTTATATAAATATATATTCAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATAT ATTTATATATATTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SRXN1_chr20_641615_658200	642202	G G	GGGGCCCA others(484): Show GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCC AGCGGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	419	0.0024	491	c.65 others(502): Show c.6511_*6512insACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCAC CCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4412		chr20	TogoVar
STARD7_chr2_96179859_96213827	96197085	A A	ACTAAACT others(484): Show ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAA ACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	314	0.0032	491	c.291 others(508): Show c.291-1537_291-1536insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAG		STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7						chr2	TogoVar
TECPR1_chr7_98209624_98257232	98243054	C C	CTGTCCAT others(484): Show CTGTCCATCTGCACACACCTTCCATCCATCCACACATATACCCACCTATC CGTCTACCCATGCACTCACCCACCCACTCACTCACCCATCCACACACCCA CCCACACACCCATCCATCCACACACCCACCCACCCATCCATCCACACATC CACCCACACATCCATCCATCCACCCATCCATACATCCATCTGCACAACCA CCCATCTGTCCATCTGCACATACCTTCCATTCATCCACACATACACCCAC CCACCCACTCACCCACCCATCCACACACCCATCCACCCATCCACACACCC ACCCACCCATCCATCCACACATCCACCCACACACCCATCCATCCATCCAT CCGCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACA CATATACCCACCTATCCATCTACCCATGCACCCACCCACCCACCCACTCA CCCATCCACACACCCACCCACACACCCATCCATCCACACAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp1 HG02809.hp1 HG03516.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0033 a0004c0013t0033	a0004c0013t0033g0161 a0004c0013t0033g0162 a0004c0013t0033g0161 a0004c0013t0033g0162	2	341	0.0059	491	c.657 others(506): Show c.657+412_657+413insTTTGTGTGGATGGATGGGTGTGTGGGTGGG TGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGGATA GGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGATGG GTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTGGAT GGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGGTGG GTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATGTGCAGA TGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGATGGATG GATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGA TGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGGTGAGTG CATGGGTAGACGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGT GCAGATGGACA		TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25						chr7	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(484): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACC ACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	208	0.0048	491	c.228 others(510): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TNK2_chr3_195858364_195913551	195874845	T T	TCCCCCTC others(484): Show TCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCC CTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGG ATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGC GCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCA CGCACGCTCCGAGGCACAAGAAGCTCCCCCTCGGGATGGCGCCCACGCAC ACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCG AGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCAC AAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAA GCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCC CTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	365	0.0027	491	c.125 others(510): Show c.1257-2376_1257-2375insGAGTTTCTTGTGCCTCGGAGCGTGCG TGGGCGCCATCCCGAGGGGAGCTTCTTGTGCCTCGGAGCGTGCGTGGGCG CCATCCCGAGGGGAGCTTCTTGTGCCTCGGAGCGTGCGTGGGCGCCATCC CGAGGGGGAGTTTCTTGTGCCTCGGAGCGTGCGTGGGCGCCATCCCGAGG GGAGCTTCTTGTGCCTCGGAGTGTGCGTGGGCGCCATCCCGAGGGGAGCT TCTTGTGCCTCGGAGTGTGCGTGGGCGCCATCCCGAGGGGGAGCTTCTTG TGCCTCGGAGCGTGCGTGGGCGCCATCCCGAGGGGGAGTTTCTTGTGCCT CGGAGCGTGCGTGGGCGCCATCCCGAGGGGGAGTTTCTTGTGCCTCGGAG CGTGCGTGGGCGCCATCCCGAGGGGAGCTTCTTGTGCCTCGGAGCGTGCG TGGGCGCCATCCCGAGGGGGAGTTTCTTGTGCCTCGGAGCGTGCGTGGGC GCCATCCCGAGGGGG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(484): Show ATATTATATATACATTATATACATTATATATATTATACATTATATATACA TTATATATATTATACATTATATATACATTATATATATTATACATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACATTATATATATTATATATTATATATACATTA TATATATTATATATTATATATACATTATATATATTATATATTATATATAC ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	149	0.0067	491	c.102 others(510): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATGTATAATATATATAATGTATATATAA TGTATAATATATATAATGTATATATAATGTATAATATATATAATGTATAT AATGTATATATAATA		TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8						chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507246	C C	CATACGTA others(484): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATATA CATGTATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	378	0.0026	491	c.-23 others(508): Show c.-23+2801_-23+2802insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATACATGTATATATACATTATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTAT		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(484): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTC CCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCT CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTC TCCTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0019 a0003c0003t0010g0019	1	33	0.0303	491	c.53- others(504): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCT CCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTC CCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCC TCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(484): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGC TATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCA TATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG01993.hp2 HG01346.hp2 HG01496.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0016 a0001c0001t0002g0150 a0001c0001t0002g0151	3	32	0.0938	491	c.-36 others(502): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGAT ATATATCACATATGCTATATAGCATATGTGATATATATGATATATATCAC ATATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTAT ATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(484): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGC TATATAGCATATGTGATATATATGATATATATCACATATGCTATATATCA TATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA19054.hp2 NA18988.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	2	31	0.0645	491	c.-36 others(502): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGAT ATATATCACATATGCTATATAGCATATGTGATATATATGATATATATCAC ATATGCTATATATCATATGTGATATATATGATATATATCACATATGCTAT ATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(485): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0006 a0002c0027t0006	a0002c0027t0006g0221 a0002c0027t0006g0221	1	253	0.0040	492	c.130 others(511): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975564	T T	TATATTTA others(485): Show TATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATT TATCGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TATAAATATTGTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0212 a0001c0006t0002g0212	1	154	0.0065	492	c.130 others(511): Show c.1308+1012_1308+1013insTTAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATAT ATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAACAATATTTATATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATCGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(485): Show ATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCGATAAATATAACAATATTTATAT ATTTATAGATAAATATATAAATATATAAATATTGTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTAT AGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATAT CAATATATAAATATTTTTATATTTATAGATAAATATATCAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTAAATATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0215 a0001c0005t0001g0215	1	120	0.0083	492	c.130 others(509): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTGTTATATTTATCGATAAATATATA AATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATA TTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAA TATAAAAATATTTA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(485): Show ATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATCGAT AAATATATAAATATTTATATATTTATCGATAAATATATAAATATTTATAT ATTTATAGATAAATATATAAATATATAAATATTGTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTAT AGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATAT CAATATATAAATATTTTTATATTTATAGATAAATATATCAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTAAATATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0218 a0001c0005t0001g0218	1	120	0.0083	492	c.130 others(509): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTTATATATTTATCGATAAATATATA AATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATATA TTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAA TATAAAAATATTTA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(485): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	265	0.0038	492	c.51 others(503): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACTCGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3933		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(485): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	492	c.-10 others(503): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATA TAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTTATAT ATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(485): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	492	c.-10 others(503): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATAAA TATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATA TAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATAT ATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(485): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTG GGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGG TCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCC CGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTC TATGTGGGTCTGCTCCCGACCCTGTTCCTGAGCCCGTTCCTGAGCCCCTT TCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCC TGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTG AGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGC CCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCC TGACCCTGAGCCTCTATGTGGGTCTGCTCCCGACCCTGTTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0165 a0002c0002t0080g0165	1	145	0.0069	492	c.520 others(501): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAG GCCCAGAAAGGGGCTCAGGAACGGGCTCAGGAACAGGGTCGGGAGCAGAC CCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTC GGGATCGGGCTCGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAG AGGCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGA GCAGACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAAC GGGCTC	p.Ala others(507): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAlaAr gGluGlnAlaGlnLysGlyAlaGlnGluArgAlaGlnGluGlnGlyArgG luGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGlu TrpAlaArgAspArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleGl uThrGlnArgGlnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnG lyTrpGluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAla GlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412948	T T	TGCCCCGC others(485): Show TGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCC AACAGTACCCCGCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCA GAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCC ACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCC CCGCAGAACTCGGTTCACCCACCGCCAACAGCACCCCGCGGAGGCTCGGT TCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAAC AGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGC TCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCG CCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0182 a0001c0004t0004g0182	1	38	0.0263	492	c.106 others(511): Show c.1062-4729_1062-4728insGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCG CTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGTGCTGTTGGCGGTGGG TGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGC CTCCGCGGGGTACTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTG TTGGCGGTGGGTGAACCGAGTTCTGTGGGGTACTGTTGGCGGTGGGTGAA CCGAGCTCTGCGGGGC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
AFF2_chrX_148495617_149005663	148581451	T T	TATATACG others(485): Show TATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	154	0.0065	492	c.48- others(509): Show c.48-70547_48-70546insTATACGTATACGTGTACACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACATACACGTATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(485): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	298	0.0034	492	c.589 others(507): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCT		AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5						chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(485): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	157	0.0127	492	c.589 others(507): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCT		AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5						chr9	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(485): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGA GGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18977.hp1 NA18957.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0177 a0001c0001t0006g0174 a0001c0001t0006g0177	2	184	0.0109	492	c.125 others(513): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCC CCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTC CCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCT CCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCC TCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(485): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGA GGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0062 a0001c0001t0002g0063	2	184	0.0109	492	c.125 others(513): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCC CCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTC CCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCT CCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCC TCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(485): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGA GGAGGGGGGGGGAGGAGGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAG GAGGGGGGAGGAGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	183	0.0055	492	c.125 others(513): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCC CCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTC CCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCT CCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCC TCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTAAT others(485): Show GTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0039 a0001c0001t0046g0039	1	209	0.0048	492	c.37 others(501): Show c.372_*373insAATACATATATGTATAAATACGTATTAATACATATA TGTATAAATACGTATTAATACATATATGTATAAATACATACATATTTATA CATATATGTATACATACATATTTATACATATATATGTATAAATACATACA TATTTATACATATATATGTATAAATACATACATATTTATACATATATATG TATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATT TATACATATATATGTATAAATACGTACATATTTATACATATATATGTATA AATACGTACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATA CGTACATATTTATACATATATGTATAAATACATATACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATATT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				373	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(485): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 NA18954.hp2 NA19091.hp1 HG01358.hp1 NA18954.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0072 a0001c0001t0034 a0001c0001t0072	a0001c0001t0034g0078 a0001c0001t0034g0080 a0001c0001t0072g0079 a0001c0001t0034g0078 a0001c0001t0034g0080 a0001c0001t0072g0079	3	211	0.0142	492	c.39 others(501): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACATATACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATAC		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP2_chr2_9201812_9410678	9406247	G G	GTGTGTGT others(485): Show GTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0031 a0001c0002t0009g0031	1	196	0.0051	492	c.29 others(503): Show c.2920_*2921insTGTGTGTCACTGAGTGGACCTCTGTGACATCTAG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTGTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAG GCCTTCAA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					570		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25757861	A A	ACTCATTC others(485): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0033 a0033	a0033c0037 a0033c0037	a0033c0037t0001 a0033c0037t0001	a0033c0037t0001g0212 a0033c0037t0001g0212	1	288	0.0035	492	c.655 others(511): Show c.655-21721_655-21720insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758148	C C	CGATCACC others(485): Show CGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTCATTCCGACCACCTGCTCCACCCTTACTCATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	296	0.0034	492	c.655 others(511): Show c.655-22008_655-22007insAATGAGTAAGGGTGGAGCAGGTGGTC GGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGATCGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATC		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(485): Show GACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAAC CTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCC CCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAG CCTCCCTTCCACTCCTCCCACCCGGCTTCCGTTCCTGGCCCCAGCCTCCC TTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACC CCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCC CTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCA CTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACCCCTGA TGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCC ACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0015 a0001c0019t0015	a0001c0019t0015g0147 a0001c0019t0015g0147	1	2	0.5000	492	c.39+ others(509): Show c.39+23601_39+23602insGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCGTTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCC ACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTG GTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCA GCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCC CCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCC AGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTC CCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(485): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCC ACTCCCCCCACCCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCTCCCACCCTGGTCCCAGCCTCCCTTCC ACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	2	0.5000	492	c.39+ others(509): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCC AGCCTCCCTTCCACTCCCCCCACCCCCTGATCCCACACCTCCCTTTCACT CCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCACCCTGGTCCC AGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTC CCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GAT1_chr11_134373508_134417242	134408763	T T	TATTCCAG others(485): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGAC AGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCTCCAC CTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0006 a0001c0001t0014g0070 a0001c0001t0004g0006 a0001c0001t0014g0070	2	312	0.0064	492	c.-28 others(511): Show c.-282+3043_-282+3044insCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATAGGTGGAGGCTATCCCACCTCCCTCCTCACCCCAC TGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGA ATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCA GGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCC ACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTC CTCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar

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