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
SGSM2_chr17_2332501_2386054	2355437	G G	GGGGGAAG others(92): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTT GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03225.hp1 HG01167.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0373 a0002c0002t0001g0394 a0002c0002t0001g0373 a0002c0002t0001g0394	2	419	0.0048	99	c.134 others(116): Show c.134-6155_134-6154insCGTTGGGGGAAGGGACCCCATATCTTAG AATGGTGGAATCGGGGTGTAAGCGTTGGGGAAGGGACCCCATATCTTAGA ATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355883	T T	TGGGGAAG others(92): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 NA19043.hp1 HG03195.hp2 NA19030.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0022 a0001c0001 a0020c0022	a0001c0001t0001 a0001c0001t0022 a0020c0022t0001 a0001c0001t0001 a0001c0001t0022 a0020c0022t0001	a0001c0001t0001g0106 a0001c0001t0022g0126 a0020c0022t0001g0266 a0001c0001t0001g0106 a0001c0001t0022g0126 a0020c0022t0001g0266	3	342	0.0088	99	c.134 others(116): Show c.134-5701_134-5700insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355929	G G	GGTTGGGG others(92): Show GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0131 a0006c0007t0001g0131	1	405	0.0025	99	c.134 others(116): Show c.134-5701_134-5700insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTAGA ATCGGGGTGTAAGAGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356576	G G	GGTTGGGG others(92): Show GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02965.hp2 others(1): Show HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0005 a0019c0047 a0001c0001 a0001c0005 a0019c0047	a0001c0001t0001 a0001c0005t0002 a0019c0047t0001 a0001c0001t0001 a0001c0005t0002 a0019c0047t0001	a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0005t0002g0082 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0005t0002g0082 a0019c0047t0001g0279	4	365	0.0110	99	c.134 others(116): Show c.134-5035_134-5034insGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGG GGGAAGGGACCCCATATCTTA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3GL2_chr9_17574066_17802124	17700051	C C	CAAGAAGA others(92): Show CAAGAAGAAAATTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	241	0.0041	99	c.46- others(116): Show c.46-47004_46-47003insTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAGAAGAAAAT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(92): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCTGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	13	0.0769	99	c.234 others(116): Show c.234-4466_234-4465insCTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCAGCCAGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76689356	G G	GAGCGCCG others(92): Show GAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCGC CGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0130 a0003c0002t0001g0130	1	110	0.0091	99	c.324 others(118): Show c.324-20773_324-20772insCGAGCCAGCGCCGAGCCAGCGCCGAG CCAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCGCCGAGCCAGCG CCGAGCCAGCGCCGAGCCAGCGC	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	401787	C C	CCCCGCTC others(92): Show CCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19087.hp1 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0054 a0001c0001t0001g0060	2	219	0.0091	99	c.41 others(110): Show c.4108_*4109insTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAG CGGGTCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGG TCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3928		chr11	TogoVar
SLC13A3_chr20_46552828_46656459	46656268	G G	GTACAGTA others(92): Show GTACAGTATATATTATACTGTATATGATATACTATACAGTATATATTATA CTGTATATGATATACTATACAGTATATATTATACTGTATATGATATACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(8): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG02280.hp2 HG02572.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03710.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0014t0001 a0002c0011t0013	a0001c0001t0001g0180 a0001c0001t0001g0238 a0001c0001t0003g0002 others(7): Show a0001c0001t0001g0180 a0001c0001t0001g0238 a0001c0001t0003g0002 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0002t0003g0215 a0001c0014t0001g0009 a0002c0011t0013g0237	11	319	0.0345	99	c.-48 others(110): Show c.-4848_-4847insTAGTATATCATATACAGTATAATATATACTGTAT AGTATATCATATACAGTATAATATATACTGTATAGTATATCATATACAGT ATAATATATACTGTA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4810		chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46656293	A A	AATATACT others(92): Show AATATACTATACAGTATATATTATACTGTATATGATATACTATACAGTAT ATATTATACTGTATATGATATACTATACAGTATATATTATACTGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG03017.hp1 HG03669.hp1 others(4): Show HG00544.hp2 HG03017.hp1 HG03669.hp1 HG04204.hp2 NA18957.hp1 NA18963.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0010 a0001c0004t0001 a0001c0005t0002 a0001c0006t0007	a0001c0001t0003g0181 a0001c0002t0001g0193 a0001c0002t0002g0140 others(4): Show a0001c0001t0003g0181 a0001c0002t0001g0193 a0001c0002t0002g0140 a0001c0003t0010g0176 a0001c0004t0001g0149 a0001c0005t0002g0169 a0001c0006t0007g0055	7	170	0.0412	99	c.-49 others(110): Show c.-4971_-4873dupCATATACAGTATAATATATACTGTATAGTATATC ATATACAGTATAATATATACTGTATAGTATATCATATACAGTATAATATA TACTGTATAGTATAT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4835		chr20	TogoVar
SLC22A1_chr6_160116815_160163718	160152643	A A	ATTCTCTT others(92): Show ATTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	117	0.0085	99	c.138 others(118): Show c.1386-2151_1386-2150insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTT CCTTCCTTTCTTTCTTTCTTTCT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3310350	G G	GAGCACCC others(92): Show GAGCACCCTGTCTCCCACTCGAGCACCCTGTCTCCCACTCGAGCACCCTG TCTCCCACTCAAGCACCCTGTCTCCCAGGGAGCACCCTGTCTCCCACTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG03471.hp1 HG02965.hp2 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0011g0210 a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0011g0210	3	220	0.0136	99	c.108 others(120): Show c.1083-12133_1083-12132insTGAGTGGGAGACAGGGTGCTCCCT GGGAGACAGGGTGCTTGAGTGGGAGACAGGGTGCTCGAGTGGGAGACAGG GTGCTCGAGTGGGAGACAGGGTGCT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC25A41_chr19_6421037_6438763	6429111	T T	TATATATA others(92): Show TATATATATTATATATATGTTATATATATATATAATATATATATTATATA TATGTTACATATATAATATATATATTATATATATGTTACATATATATAAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18997.hp1 NA18940.hp1 NA18997.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0015 a0001c0002 a0011c0015	a0001c0002t0001 a0011c0015t0001 a0001c0002t0001 a0011c0015t0001	a0001c0002t0001g0213 a0011c0015t0001g0183 a0001c0002t0001g0213 a0011c0015t0001g0183	2	345	0.0058	99	c.624 others(114): Show c.624+612_624+613insGTTATATATATGTAACATATATATAATATA TATATTATATATGTAACATATATATAATATATATATTATATATATATATA ACATATATATAATATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429156	A A	ATATATAT others(92): Show ATATATATGTTACATATATATAATATATATATTATATATATGTTATATAT ATATATAATATATATATTATATATATAATATATATATAATATATATATGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	345	0.0058	99	c.624 others(114): Show c.624+567_624+568insACATATATATATTATATATATATTATATAT ATAATATATATATTATATATATATATAACATATATATAATATATATATTA TATATATGTAACATATATA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928603	T T	TTTCTCTC others(92): Show TTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0013 a0001c0004t0001g0013	1	155	0.0065	99	c.108 others(118): Show c.1083+4495_1083+4496insCTCTCTCTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC38A9_chr5_55620848_55717324	55696666	A A	ACCTCCTG others(92): Show ACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCTCACCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0176 a0001c0007t0005g0176	1	348	0.0029	99	c.113 others(116): Show c.113+1179_113+1180insGAGGTGAGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(92): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAG AAGAGGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	219	0.0046	99	c.42 others(110): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCT TCTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(92): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGA CCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0061	1	128	0.0078	99	c.82 others(110): Show c.8287_*8288insCCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCACGGTCTCTCTCTCTCTCACTCTCTCTCTCTCTCTCTC CACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(92): Show AGAGAGAGAGACCGTGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG ACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0109 a0002c0001t0001g0109	1	128	0.0078	99	c.82 others(110): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC CACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203288	A A	AGAGAGGG others(92): Show AGAGAGGGAGAGGGGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0185 a0001c0004t0018g0185	1	183	0.0055	99	c.82 others(110): Show c.8283_*8284insCACGGTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTC TCCCCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3885		chr8	TogoVar
SLC6A5_chr11_20594608_20664285	20647314	G G	GTTATATA others(92): Show GTTATATAGTTATATATATAACTATATATTCCTATTATATAGTTATATAT ATAACTATATATTCCTATTATATAGTTATATATATAACTATATATTCCTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02647.hp1 others(2): Show HG02109.hp1 HG02451.hp1 HG02647.hp1 HG02970.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0041 a0002c0002 a0001c0004 a0001c0041 a0002c0002	a0001c0004t0007 a0001c0041t0007 a0002c0002t0007 a0001c0004t0007 a0001c0041t0007 a0002c0002t0007	a0001c0004t0007g0010 a0001c0004t0007g0068 a0001c0041t0007g0065 others(1): Show a0001c0004t0007g0010 a0001c0004t0007g0068 a0001c0041t0007g0065 a0002c0002t0007g0059	5	143	0.0350	99	c.207 others(116): Show c.2070+464_2070+465insAACTATATATTCCTATTATATAGTTATA TATATAACTATATATTCCTATTATATAGTTATATATATAACTATATATTC CTATTATATAGTTATATATAT	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(92): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	334	0.0030	99	c.152 others(116): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(92): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	334	0.0030	99	c.152 others(116): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(92): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 NA20129.hp2 HG00140.hp2 HG00738.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209	3	336	0.0089	99	c.152 others(116): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(92): Show ATTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	334	0.0030	99	c.152 others(116): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGAAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(92): Show TTTCTTTTCTTTCTTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	316	0.0032	99	c.152 others(116): Show c.152-2694_152-2693insGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA GAGAGAGAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29559399	A A	AGAATGTG others(92): Show AGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGAGTGAATGTGAGT GACGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0263 a0001c0001t0014g0263	1	224	0.0045	99	c.-11 others(118): Show c.-114-5540_-114-5539insACTCCCCCTCACTCACATTCTCTCCC CCTCACTCACATTCACTCCCCGTCACTCACATTCACTCCCCTCACTCACA TTCTCTCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A9_chr3_143260222_143853468	143449697	T T	TAATTATA others(92): Show TAATTATATAATTATATAAAATATAATTATATAAAATATAATAATTATAT AATTATATAAAATATAATTATATAAAATAATTATATAAAATATAATTATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 HG02723.hp2 NA19043.hp1	a0001 a0001	a0001c0012 a0001c0015 a0001c0012 a0001c0015	a0001c0012t0007 a0001c0015t0021 a0001c0012t0007 a0001c0015t0021	a0001c0012t0007g0093 a0001c0015t0021g0066 a0001c0012t0007g0093 a0001c0015t0021g0066	2	13	0.1538	99	c.146 others(120): Show c.1469+17339_1469+17340insTATAATTATATTTTATATAATTAT TTTATATAATTATATTTTATATAATTATATAATTATTATATTTTATATAA TTATATTTTATATAATTATATAATT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	92143459	A A	ATTATATA others(92): Show ATTATATATAATATATATAAAATATATATATATAAAAAATATATATTATA TAATATATATAAAATATATATATTATATAATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	161	0.0062	99	c.151 others(118): Show c.1513-3525_1513-3524insTTATATATAATATATATAAAATATAT ATATATAAAAAATATATATTATATAATATATATAAAATATATATATTATA TAATATATATATATAATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(92): Show TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02280.hp2 HG03471.hp2 others(2): Show HG02165.hp1 HG02280.hp2 HG03471.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0125 a0001c0001t0126	a0001c0001t0001g0273 a0001c0001t0006g0223 a0001c0001t0022g0271 others(2): Show a0001c0001t0001g0273 a0001c0001t0006g0223 a0001c0001t0022g0271 a0001c0001t0125g0230 a0001c0001t0126g0231	5	195	0.0256	99	c.784 others(114): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501266	A A	AATATATA others(92): Show AATATATAATATAGTATTATATTTTATATTTTATAATATATAATATAGTA TTATATTTTATATTTTATAATATATTATATTATATATTATATTTTATAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19058.hp1 HG01099.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0266 a0001c0001t0009g0198 a0001c0001t0006g0266 a0001c0001t0009g0198	2	336	0.0060	99	c.17 others(118): Show c.174+9612_*174+9613insATTATAAAATATAATATATAATATAA TATATTATAAAATATAAAATATAATACTATATTATATATTATAAAATATA AAATATAATACTATATTATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168592576	G G	GGGCATCT others(92): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19000.hp2 HG02004.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0091 a0001c0002t0002g0007 a0001c0001t0001g0091 a0001c0002t0002g0007	2	154	0.0130	99	c.638 others(116): Show c.638-6242_638-6241insGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCT CCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594318	G G	GCATCTTT others(92): Show GCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCG GGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 NA18522.hp2 HG01891.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0010 a0004c0012 a0001c0002 a0002c0010 a0004c0012	a0001c0002t0002 a0002c0010t0001 a0004c0012t0010 a0001c0002t0002 a0002c0010t0001 a0004c0012t0010	a0001c0002t0002g0038 a0002c0010t0001g0130 a0004c0012t0010g0076 a0001c0002t0002g0038 a0002c0010t0001g0130 a0004c0012t0010g0076	3	152	0.0197	99	c.638 others(116): Show c.638-4500_638-4499insCATCTTTCTAGAGGATCTCCGAGCTCCT CCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAGCTCC TCCTTCTTCCTGAGGCCTCGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594832	G G	GGGCATCT others(92): Show GGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp2 others(24): Show HG00609.hp2 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02735.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(24): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0060 a0001c0002t0007g0016	27	108	0.2500	99	c.638 others(116): Show c.638-3986_638-3985insGGCATCTTTCTAGAGGATCGCTGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTTCCTAAGGCCTCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(92): Show AGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGG TGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0025 a0002c0036t0025	a0002c0036t0025g0022 a0002c0036t0025g0022	1	205	0.0049	99	c.213 others(118): Show c.213+12235_213+12236insGGTGGCAGGTCTCCTGGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTG GCAGGTCTCCTGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7676799	T T	TTCTCTCT others(92): Show TTCTCTCTCTCTCCCTCTCCCTCTCTCCACCCCAGCCCCTTCGTCTCCTC CTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG01243.hp2 others(7): Show HG00733.hp2 HG01106.hp2 HG01243.hp2 HG02615.hp2 HG02622.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0016 a0004c0007	a0001c0001t0013 a0001c0002t0001 a0001c0003t0014 others(7): Show a0001c0001t0013 a0001c0002t0001 a0001c0003t0014 a0001c0003t0016 a0001c0003t0020 a0001c0005t0003 a0001c0005t0006 a0001c0011t0003 a0001c0016t0001 a0004c0007t0014	a0001c0001t0013g0099 a0001c0002t0001g0123 a0001c0003t0014g0034 others(7): Show a0001c0001t0013g0099 a0001c0002t0001g0123 a0001c0003t0014g0034 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0005t0003g0101 a0001c0005t0006g0157 a0001c0011t0003g0120 a0001c0016t0001g0009 a0004c0007t0014g0166	10	113	0.0885	99	c.134 others(116): Show c.1341+573_1341+574insCTCTCTCTCCCTCTCCCTCTCTCCACCC CAGCCCCTTCGTCTCCTCCTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCC TTTCTCTCTCTCTCTCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP100_chr2_230411201_230550606	230513961	A A	AAAAGAAA others(92): Show AAAAGAAATTAGTCCTAGAGTAACCAAATGAACAAGTCATCAATTTATAG TTGCTGTTGCTTGTTGAATACAAGCAAACAACTTGAAAACACAATAGAAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	238	0.0042	99	c.209 others(118): Show c.2094+2811_2094+2812insGAGTAACCAAATGAACAAGTCATCAA TTTATAGTTGCTGTTGCTTGTTGAATACAAGCAAACAACTTGAAAACACA ATAGAATAAAGAAATTAGTCCTA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA3_chr2_230991121_231013040	231001916	C C	CCTGTCAA others(92): Show CCTGTCAACAGCATGTGAGCCGAGTCCAGAAGGATCTTGAAGTCCTCTCT GGCTTAAGATGAAAAGCGGGAGCAATCTGGGTGCAGGAAAAGGCAAGCGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0084 a0004c0004t0002g0084	1	434	0.0023	99	c.474 others(114): Show c.474-767_474-669dupCTGTCAACAGCATGTGAGCCGAGTCCAGAA GGATCTTGAAGTCCTCTCTGGCTTAAGATGAAAAGCGGGAGCAATCTGGG TGCAGGAAAAGGCAAGCGT	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	641973	G G	GGGGGGGG others(92): Show GGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	393	0.0051	99	c.67 others(110): Show c.6740_*6741insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4641		chr20	TogoVar
ST8SIA5_chr18_46662821_46762053	46698250	A A	ACAACCCA others(92): Show ACAACCCAACAATCCACAACACCAATCAAACCAACAACCCAACAACCCAC CACACCAACAATCAAAACAATCCAACAACCCAACACACCAACAATCAAAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0292 a0001c0001t0007g0292	1	360	0.0028	99	c.225 others(116): Show c.225-6094_225-5996dupATTTGATTGTTGGTGTGTTGGGTTGTTG GATTGTTTTGATTGTTGGTGTGGTGGGTTGTTGGGTTGTTGGTTTGATTG GTGTTGTGGATTGTTGGGTTG	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	2/6			chr18	TogoVar
STK33_chr11_8386870_8599228	8571893	T T	TTTTTTTA others(92): Show TTTTTTTAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAA TTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 HG02280.hp1 others(14): Show HG00408.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03540.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp1 NA18972.hp2 NA18992.hp1 NA19000.hp2 NA19004.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0009 a0002c0004t0004 a0001c0001t0004 a0001c0001t0009 a0002c0004t0004	a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0137 others(14): Show a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0144 a0002c0004t0004g0128 a0002c0004t0004g0129	17	303	0.0561	99	c.-46 others(120): Show c.-466+22189_-466+22190insTTAAAATTTAATTTTAATTTAAAT TTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAATT TAATTTTAATTTAAATTTTAAAAAA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8571893	T T	TTTTTTTT others(92): Show TTTTTTTTAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAA TTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02523.hp1 HG03195.hp1 others(1): Show HG02451.hp2 HG02523.hp1 HG03195.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0009 a0002c0004t0004 a0001c0001t0004 a0001c0001t0009 a0002c0004t0004	a0001c0001t0004g0139 a0001c0001t0009g0132 a0002c0004t0004g0134 others(1): Show a0001c0001t0004g0139 a0001c0001t0009g0132 a0002c0004t0004g0134 a0002c0004t0004g0135	4	290	0.0138	99	c.-46 others(120): Show c.-466+22189_-466+22190insTTAAAATTTAATTTTAATTTAAAT TTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAATT TAATTTTAATTTAAATTTAAAAAAA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8571897	A A	AAAAAAAT others(92): Show AAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01070.hp2 others(9): Show HG00280.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01515.hp2 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02738.hp2 NA18947.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0005 a0002c0003t0001 a0001c0001t0002 a0001c0002t0005 a0002c0003t0001	a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0038 others(9): Show a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0002t0005g0237 a0002c0003t0001g0305	12	104	0.1154	99	c.-46 others(120): Show c.-466+22087_-466+22185dupAAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8572029	T T	TAAAAAAT others(92): Show TAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0255 a0001c0002t0007g0324 a0001c0002t0007g0255 a0001c0002t0007g0324	2	223	0.0090	99	c.-46 others(120): Show c.-466+22053_-466+22054insTAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STX8_chr17_9245471_9580820	9429855	A A	ATATTATG others(92): Show ATATTATGTATTATATATAATATACATAATACATAATATATTATATATAA TATATATAATATATTATATATATTATATATAATATATTCTATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	168	0.0060	99	c.542 others(118): Show c.542-51203_542-51202insATATATATATAGAATATATTATATAT AATATATATAATATATTATATATATTATATATAATATATTATGTATTATG TATATTATATATAATACATAATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430044	A A	ATTTATAT others(92): Show ATTTATATATAATATATATATAATATATATTATATATTATATATATATTA TATATAATATATATATAATATATAATATATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0064 a0001c0005t0001g0184 a0001c0002t0001g0064 a0001c0005t0001g0184	2	141	0.0142	99	c.542 others(118): Show c.542-51392_542-51391insATATATATAATATATAATATATATAT TATATATTATATATATATTATATATAATATATATATAATATATAATATAT ATTATATATATATTATATATAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430044	A A	ATTTATAT others(92): Show ATTTATATATAATATATATATAATATATATTATATATTATATATATATTC TATATAATATATATATAATATATAATATATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0182	1	140	0.0071	99	c.542 others(118): Show c.542-51392_542-51391insATATATATAATATATAATATATATAT TATATATTATATATATATTATATAGAATATATATATAATATATAATATAT ATTATATATATATTATATATAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108772352	A A	ATATCTAT others(92): Show ATATCTATATATCATATATAAATACATATGATATCTATCTATATATCATA TATAAATACATATGATATCTATCTATATATCATATATAAATACATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	170	0.0059	99	c.439 others(114): Show c.439-308_439-307insATATATCATATATAAATACATATGATATCT ATCTATATATCATATATAAATACATATGATATCTATCTATATATCATATA TAAATACATATATCTATCT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(92): Show CCCTCCCCTCCCCTCCCCTCCCCTCTCTCCCTCCTCCTCCCCTCCCCTCT CCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0141 a0001c0001t0088g0141	1	110	0.0091	99	c.10 others(112): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGAGAGGGGAGGGGAGGAGGAGGGAGAGAGGGGA GGGGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15730704	T T	TGTGCGCG others(92): Show TGTGCGCGCGCGCGCGCGCTCCCACGCGCACGTGACCACTTGCTACGAAA TTCGTTTTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	266	0.0038	99	c.-18 others(110): Show c.-1823_-1822insGTGCGCGCGCGCGCGCGCTCCCACGCGCACGTGA CCACTTGCTACGAAATTCGTTTTATTCCAGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGC	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		1578		chr17	TogoVar

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