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
SBNO2_chr19_1102638_1179268	1164823	G G	GCAGGAGG others(182): Show GCAGGAGGAGGAGGAGGAGGAGAAACAGGTGTTAGGACACTGTGGGGACG TCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGGAAG AGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01257.hp2 HG00544.hp2 HG01109.hp2 HG01257.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0003c0009t0001 a0001c0001t0001 a0001c0002t0001 a0003c0009t0001	a0001c0001t0001g0024 a0001c0002t0001g0048 a0003c0009t0001g0170 a0001c0001t0001g0024 a0001c0002t0001g0048 a0003c0009t0001g0170	3	4	0.7500	189	c.-12 others(208): Show c.-127+9348_-127+9349insTCCTCCTGTTCCTCCTCCTCCTCGTC CTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGC CCCGGCATCTGGGACGTCCCCACAGTGTCCTAACACCTGTTTCTCCTCCT CCTCCTCCTCCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGTTGG others(182): Show GGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	164	0.0061	189	c.464 others(202): Show c.464+84_464+85insTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTG AGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289982	T T	TCCCGTGT others(182): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCCG TGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	259	0.0039	189	c.166 others(206): Show c.1663-281_1663-280insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(182): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0041 a0002c0002t0004g0041	1	314	0.0032	189	c.97 others(198): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTCCTGCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTC TTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431894	A A	ACAGGGTG others(182): Show ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	347	0.0029	189	c.101 others(208): Show c.1014-1073_1014-1072insCAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432011	A A	ACAGGGTG others(182): Show ACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	337	0.0030	189	c.101 others(206): Show c.1014-956_1014-955insCAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432079	G G	GTGGACAG others(182): Show GTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGAG AGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	356	0.0028	189	c.101 others(206): Show c.1014-885_1014-884insACAGGGTGGACAGGGTGGTTAGGGTGGA TAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGAC AGGGTGGACAGGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGAGAGGGT GGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(182): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	76	0.0132	189	c.691 others(208): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCT TCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34310646	G G	GTGTGTGT others(182): Show GTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGAGTG TGTGTGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTC CTGGGCTCAAGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGGCCAGGCTA GTGTTGAACTCCTGGGCTCAACTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0219	1	227	0.0044	189	c.271 others(208): Show c.271+25763_271+25764insTACACACACACACACACAGTTGAGCC CAGGAGTTCAACACTAGCCTGGCCACGGGGACACACACACACACACACAC ACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGACACACACA CACACACACACACACACTCTTGAGCCCAGGAGTTCAACACCAGCCTGGAC ACGGGGACACACA	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(182): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00673.hp1 others(50): Show HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18948.hp1 NA18951.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18997.hp1 NA19001.hp1 NA19009.hp1 NA19058.hp1 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0029 a0001c0001t0040 a0001c0001t0041 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0063	a0001c0001t0001g0004 a0001c0001t0001g0207 a0001c0001t0001g0208 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0004g0229 a0001c0001t0010g0239 a0001c0001t0010g0304 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0011g0263 a0001c0001t0011g0309 a0001c0001t0011g0347 a0001c0001t0011g0363 a0001c0001t0017g0283 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0017g0293 a0001c0001t0029g0276 a0001c0001t0029g0277 a0001c0001t0040g0224 a0001c0001t0041g0221 a0001c0001t0051g0163 a0001c0001t0054g0205 a0001c0001t0055g0294 a0001c0001t0056g0220 a0001c0001t0057g0225 a0001c0001t0061g0212 a0001c0001t0063g0377	53	332	0.1596	189	c.555 others(206): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCT GCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(182): Show GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	418	0.0024	189	c.732 others(204): Show c.732+500_732+501insCTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGA GGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAA GACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGAGC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC9A3_chr5_465456_529449	486841	G G	GCCCACCG others(182): Show GCCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACT GACACCCACCACACTGACACCCACCACACTGACACCGTGATCCAGACCGC ACTGACACCCACCACACTGACACCCACCACACTGACACCGTGATCCAGAC CGCACTGACACCCACCACACTGACACCCACCACACTGACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	192	0.0052	189	c.675 others(206): Show c.675+1474_675+1475insTGTCAGTGTGGTGGGTGTCAGTGTGGTG GGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTGTG GTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGT GTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTC AGTGCGGTGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143448988	T T	TTATAATT others(182): Show TTATAATTATATAATTATATTAGATATAATTATATTATATAATTATATTA GATATAATTATATTATATAATTATATAAAATATAATTATATTATATAATT ATATAAAATATAATTATATTATATAATTATAAAAATATAATTATATTATA TAATTATAAAAATATAATTATATTATATAATTATATAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	102	0.0098	189	c.146 others(210): Show c.1469+18048_1469+18049insTTTTATATAATTATATAATATAAT TATATTTTTATAATTATATAATATAATTATATTTTTATAATTATATAATA TAATTATATTTTATATAATTATATAATATAATTATATTTTATATAATTAT ATAATATAATTATATCTAATATAATTATATAATATAATTATATCTAATAT AATTATATAATTATA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143448988	T T	TTATAATT others(182): Show TTATAATTATATAATTATATTATATATAATTATATTATATAATTATATTA GATATAATTATATTATATAATTATATAAAATATAATTATATTATATAATT ATATAAAATATAATTATATTATATAATTATAAAAATATAATTATATTATA TAATTATAAAAATATAATTATATTATATAATTATATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02897.hp2 HG00438.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0004 a0001c0001t0002 a0001c0003t0004	a0001c0001t0002g0048 a0001c0003t0004g0095 a0001c0001t0002g0048 a0001c0003t0004g0095	2	103	0.0194	189	c.146 others(210): Show c.1469+18048_1469+18049insTTTTATATAATTATATAATATAAT TATATTTTTATAATTATATAATATAATTATATTTTTATAATTATATAATA TAATTATATTTTATATAATTATATAATATAATTATATTTTATATAATTAT ATAATATAATTATATCTAATATAATTATATAATATAATTATATATAATAT AATTATATAATTATA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143448988	T T	TTATAATT others(182): Show TTATAATTATATAATTATATTATATATAATTATATTATATAATTATATTA TATATAATTATATTATATAATTATATAAAATATAATTATATTATATAATT ATATAAAATATAATTATATTATATAATTATAAAAATATAATTATATTATA TAATTATAAAAATATAATTATATTATATAATTATATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	102	0.0098	189	c.146 others(210): Show c.1469+18048_1469+18049insTTTTATATAATTATATAATATAAT TATATTTTTATAATTATATAATATAATTATATTTTTATAATTATATAATA TAATTATATTTTATATAATTATATAATATAATTATATTTTATATAATTAT ATAATATAATTATATATAATATAATTATATAATATAATTATATATAATAT AATTATATAATTATA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(182): Show TTATATATATATTATATAATATTATGTATAATATATATTATATATTATAT ATATATTATATATATTATGTATAATATATATTATATATATTATATATATT ATGTATAATATATATTATATATATTATATATTATGTATAATATATATTTT ATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0201 a0001c0001t0092g0201	1	153	0.0065	189	c.784 others(204): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATTATATAAT ATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2768669	T T	TACACTAT others(182): Show TACACTATATACTATACTAGTATAGTATATAGTACACTATATACTATACT AGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATAGTACA CTATATACTATACTACTATAGTATATAGTACACTATATACTATACTACTA GTATAGTATATAGTACACTATATACTATACTACTAGTATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	279	0.0036	189	c.472 others(208): Show c.4720-1025_4720-1024insACACTATATACTATACTAGTATAGTA TATAGTACACTATATACTATACTAGTATAGTATATAGTACACTATATACT ATACTAGTATAGTATATAGTACACTATATACTATACTACTATAGTATATA GTACACTATATACTATACTACTAGTATAGTATATAGTACACTATATACTA TACTACTAGTATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2768669	T T	TACACTAT others(182): Show TACACTATATACTATACTAGTATAGTATATAGTACACTATATACTATACT AGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATAGTACA CTATATACTATACTAGTATAGTATATAGTACACTATATACTATACTACTA GTATAGTATATAGTACACTATATACTATACTACTAGTATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01978.hp1 HG02148.hp2 others(4): Show HG00733.hp2 HG01978.hp1 HG02148.hp2 NA18962.hp2 NA19003.hp1 NA19062.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0177 a0001c0002t0001g0195 a0001c0002t0002g0167 others(4): Show a0001c0002t0001g0177 a0001c0002t0001g0195 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172	7	285	0.0246	189	c.472 others(208): Show c.4720-1025_4720-1024insACACTATATACTATACTAGTATAGTA TATAGTACACTATATACTATACTAGTATAGTATATAGTACACTATATACT ATACTAGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATA GTACACTATATACTATACTACTAGTATAGTATATAGTACACTATATACTA TACTACTAGTATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(182): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	113	0.0088	189	c.165 others(208): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGATGGCGTTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGAGA others(182): Show GGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGGAGAAAGGGACAGGGTTCCTGGGAGAAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAG AAAGGGACAGGGTTCCTGGGAGAAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0205 a0003c0003t0002g0205	1	239	0.0042	189	c.-31 others(200): Show c.-3199_-3198insGGCAAACCCCACCCCTTTCTCCCAGGAACCCTGT CCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCC CTTTCTCCCCCGGCAAACCCCACCCCTTTCTCCCAGGAACCCTGTCCCTT TCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTC TCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(182): Show AGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGG TGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTG GGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGT TGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0047 a0002c0021t0047	a0002c0021t0047g0321 a0002c0021t0047g0321	1	205	0.0049	189	c.213 others(208): Show c.213+12235_213+12236insGGTGGCAGGTCTCCTGGGTCTCCTGG GGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTC CTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTCTCCTGGG GGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCC TGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(182): Show AGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGG TGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCGCCTGGGTCTCCTGGGGGT TGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0014 a0002c0010t0014	a0002c0010t0014g0222 a0002c0010t0014g0222	1	205	0.0049	189	c.213 others(208): Show c.213+12235_213+12236insGGTGGCAGGTCTCCTGGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTG GCAGGTCGCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTCTCCTGGG GGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCC TGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(182): Show AGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGG TGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGT TGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG03225.hp1 others(2): Show HG02486.hp2 HG03098.hp1 HG03225.hp1 HG06807.hp1 NA18522.hp2	a0002 a0009 a0021 a0002 a0009 a0021	a0002c0018 a0002c0058 a0002c0073 others(2): Show a0002c0018 a0002c0058 a0002c0073 a0009c0030 a0021c0070	a0002c0018t0022 a0002c0058t0019 a0002c0073t0063 others(2): Show a0002c0018t0022 a0002c0058t0019 a0002c0073t0063 a0009c0030t0027 a0021c0070t0019	a0002c0018t0022g0223 a0002c0058t0019g0209 a0002c0073t0063g0007 others(2): Show a0002c0018t0022g0223 a0002c0058t0019g0209 a0002c0073t0063g0007 a0009c0030t0027g0208 a0021c0070t0019g0008	5	209	0.0239	189	c.213 others(208): Show c.213+12235_213+12236insGGTGGCAGGTCTCCTGGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTG GCAGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTCTCCTGGG GGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCC TGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557520	C C	CTTCTTCT others(182): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	319	0.0031	189	c.56 others(200): Show c.5601_*5602insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3572		chr14	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	189	c.54 others(200): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	189	c.54 others(200): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG03942.hp2 NA18970.hp2 others(2): Show HG02040.hp1 HG03942.hp2 NA18970.hp2 NA19010.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	22	0.2273	189	c.54 others(200): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18986.hp1 NA18962.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0003 a0001c0001t0001g0040	2	19	0.1053	189	c.54 others(200): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02080.hp1 HG03579.hp2 HG01109.hp2 HG02080.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0004g0005 a0001c0001t0006g0013 a0001c0001t0002g0002 a0001c0001t0004g0005 a0001c0001t0006g0013	3	20	0.1500	189	c.54 others(200): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(182): Show TATACTTATATAAAAATATATATAAATATATACTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0003 a0001c0005t0002 a0001c0005t0003	a0001c0005t0002g0006 a0001c0005t0003g0005 a0001c0005t0002g0006 a0001c0005t0003g0005	2	45	0.0444	189	c.190 others(208): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTATATAAATATATATTTATATATATTTATATAAATA TATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATA TAAATATATATTTATATATATTTTTATATAAGTATATATTTATATATATT TTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(182): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAATA TATATAAATATATATTTATATAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	44	0.0227	189	c.190 others(208): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTATATAAATATATATTTATATATATTTTTATA TAAATATATATTTATATATATTTTTATATAAATATATATTTATATATATT TTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(182): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp2 NA20300.hp1 HG02559.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0026 a0001c0001t0009g0090 a0001c0001t0006g0026 a0001c0001t0009g0090	3	331	0.0091	189	c.111 others(206): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATTA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
SRXN1_chr20_641615_658200	642093	A A	AGTTGCCT others(182): Show AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGTTGCCTGGGGGGGGAGGCC CAGCGGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	366	0.0027	189	c.66 others(200): Show c.6620_*6621insCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCC CCGCTGGGCCTCCCCCCCCAGGCAACCACCCCCGCTGGGCCCCCCCCCAG GCAAC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4521		chr20	TogoVar
SRXN1_chr20_641615_658200	642353	T T	TGGTGGGG others(182): Show TGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03579.hp2 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0002g0135 a0001c0001t0001g0035 a0001c0001t0002g0135	2	395	0.0051	189	c.63 others(200): Show c.6360_*6361insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCACC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4261		chr20	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(182): Show CAAAATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAAAACATAACATAACATAACATAACATAA CATAACATAACATAACATAACATAACATAACATAAAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	138	0.0072	189	c.291 others(206): Show c.291-1518_291-1517insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTTATGTTATGT TATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGT TATGTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TGATATTT others(182): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAA ATATATGATATTTTATATCATATATTTTATATAAAATATATGATATTTTA TATCATATATTTTATATAAAATATATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0244 a0001c0001t0007g0244	1	285	0.0035	189	c.52+ others(204): Show c.52+2475_52+2476insTGATATAAAATATCATATATTTTATATAAA ATATATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAA TATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTTAT ATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGATA TAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TTATATTT others(182): Show TTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCA TATATTTTATATAAAATATATTATATTTTATATCATATATTTTATATAAA ATATATTATATTTTATATCATATATTTTATATAAAATATATTATATTTTA TATCATATATTTTATATAAAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	285	0.0035	189	c.52+ others(204): Show c.52+2475_52+2476insTGATATAAAATATAATATATTTTATATAAA ATATATGATATAAAATATAATATATTTTATATAAAATATATGATATAAAA TATAATATATTTTATATAAAATATATGATATAAAATATAATATATTTTAT ATAAAATATATGATATAAAATATAATATATTTTATATAAAATATATGATA TAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(182): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03471.hp2 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0111 a0001c0001t0001g0101 a0001c0001t0002g0111	2	112	0.0179	189	c.-23 others(208): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF25_chr16_89868592_89916379	89907521	T T	TCCTCCCA others(182): Show TCCTCCCACCTCCCTCCTCCCTCCTCCCTCCTCCCAGCTCCCACCTCCCT CCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCAGTTCCCACCTCCCAG CTCCCACCTCCCTCCTCCCAGCTCCCACCTCCCAGTTCCCACCTCCCAGT TCCCACCTCCCTCCTCCCTCCTCTCAGCTCTCGGCTCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	257	0.0039	189	c.179 others(206): Show c.1799+206_1799+207insCCTCCCTCCTCCCTCCTCCCTCCTCCCA GCTCCCACCTCCCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCAG TTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCAGCTCCCACCTCCCAGT TCCCACCTCCCAGTTCCCACCTCCCTCCTCCCTCCTCTCAGCTCTCGGCT CCCACCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89907612	A A	ACCTCCCT others(182): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCAGTTCCCACCTCCCAGTTCCCA CCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACC TCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02145.hp2 others(13): Show HG01109.hp1 HG01192.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0290	16	124	0.1290	189	c.179 others(206): Show c.1799+296_1799+297insTCCTCCCAGCTCCCACCTCCCAGTTCCC ACCTCCCAGTTCCCACCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCA CCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCTCAG CTCCCGGCTCCCACCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCC TCCCTCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENM4_chr11_78647829_79446030	79139121	T T	TAAATATA others(182): Show TAAATATATAAAATATATATTATATTTCTATAAATATATAAAATATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTA TAAATATATAAAATATATATTATATTTCTATAAATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	50	0.0200	189	c.-66 others(206): Show c.-66+9588_-66+9589insTATATATTTATAGAAATATAATATATAT TTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGAAATA TAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATATT TATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATAT TTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(182): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCG GGACCAACCGCCATCTAGTCACCACACATCAGACCCCCGTGATCGACCGC CATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	365	0.0027	189	c.228 others(206): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGATCACGGGGGTCTGATGTGTGGTGACTAGAT GGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM6_chr20_2375901_2437753	2420080	T T	TAAAAATA others(182): Show TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0002 a0017c0018t0002	a0017c0018t0002g0124 a0017c0018t0002g0124	1	418	0.0024	189	c.167 others(208): Show c.1678+2521_1678+2522insTTAGCCGGGCGTGGTAGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATACAAAAAA	TGM6	ENSG00000166948.10	transcript	ENST00000202625.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
THEG_chr19_356747_381026	376694	G G	GCCCCCAC others(182): Show GCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCACT CTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	342	0.0029	189	c.-72 others(198): Show c.-725_-724insGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGTGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGG GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		669		chr19	TogoVar
THEG_chr19_356747_381026	376951	C C	CTCTGTGC others(182): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCC AGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	221	0.0045	189	c.-98 others(198): Show c.-982_-981insAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGA GGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCAC AGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		926		chr19	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(182): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACC CCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG03490.hp1 HG03492.hp1 others(2): Show HG00099.hp1 HG03490.hp1 HG03492.hp1 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0028 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0028	5	210	0.0238	189	c.26 others(200): Show c.2654_*2655insCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGG GACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAG GGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TLN2_chr15_62385550_62849631	62825776	A A	AATATATT others(182): Show AATATATTATATATTATATTATAATATATATTATAATATATATTATATAT TATATTATAATATATATTATATATTATAATATATATTATATATTATATTA TAATATATATTATATATTATAATATATAATATATATTATATTATAATATA TATTATATATTATAATATATAATATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0004 a0001c0002t0024g0004	1	135	0.0074	189	c.700 others(208): Show c.7002+5183_7002+5184insTTATAATATATATTATAATATATATT ATATATTATATTATAATATATATTATATATTATAATATATATTATATATT ATATTATAATATATATTATATATTATAATATATAATATATATTATATTAT AATATATATTATATATTATAATATATAATATATATTATATTATAATATAT ATTATATATTATA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	54/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(182): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	188	0.0053	189	c.227 others(208): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(182): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0050 a0004c0006t0002g0050	1	188	0.0053	189	c.227 others(208): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(182): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0076 a0004c0010t0076	a0004c0010t0076g0233 a0004c0010t0076g0233	1	188	0.0053	189	c.227 others(208): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar

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