Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	312	0.0032	37	c.-23 others(58): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0050	1	272	0.0037	37	c.-23 others(48): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGTB_chr5_65660928_65727109	65663135	A A	ATTTTTGG others(30): Show ATTTTTGGTTTTTTTTTTAAGTTTTTTCAGCAAATCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	360	0.0028	37	c.70 others(48): Show c.7074_*7110dupCTGATTTGCTGAAAAAACTTAAAAAAAAAACCAA AAA	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding		2792		chr5	TogoVar
SH2B2_chr7_102281868_102326711	102322133	T T	TGAAGCCT others(30): Show TGAAGCCTGGCGGTGTGGACAGGGCGGCAGGGCAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(117): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19065.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0014	a0001c0001 a0001c0012 a0002c0002 others(3): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0008c0016 a0014c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0012t0001 a0002c0002t0002 a0003c0003t0002 a0008c0016t0001 a0014c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(114): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0255 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0360 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0137 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0387 a0001c0001t0002g0391 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0006g0316 a0001c0001t0007g0347 a0001c0012t0001g0273 a0002c0002t0002g0035 a0002c0002t0002g0142 a0002c0002t0002g0150 a0002c0002t0002g0379 a0003c0003t0002g0392 a0008c0016t0001g0290 a0014c0010t0001g0328	120	406	0.2956	37	c.50 others(46): Show c.503_*504insGAAGCCTGGCGGTGTGGACAGGGCGGCAGGGCAGGA A	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding		423		chr7	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	3	204	0.0147	37	c.4+1 others(52): Show c.4+13238_4+13239insATATATATATATATATATATATATTTTTTT TTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	204	0.0049	37	c.4+1 others(52): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATATTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	204	0.0049	37	c.4+1 others(52): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0002 a0017c0036t0002	a0017c0036t0002g0294 a0017c0036t0002g0294	1	316	0.0032	37	c.576 others(54): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678788	G G	GTGATGGG others(30): Show GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA18906.hp2 HG01243.hp2 HG01884.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0016 a0001c0003 a0001c0004 a0001c0016	a0001c0003t0073 a0001c0004t0076 a0001c0016t0072 a0001c0003t0073 a0001c0004t0076 a0001c0016t0072	a0001c0003t0073g0071 a0001c0004t0076g0244 a0001c0016t0072g0069 a0001c0003t0073g0071 a0001c0004t0076g0244 a0001c0016t0072g0069	3	316	0.0095	37	c.257 others(56): Show c.2578-6675_2578-6674insTCCTGACCCCTCCCCACACCCTGACC CCTCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678847	A A	ATGGGGAG others(30): Show ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG03540.hp2 others(2): Show HG02145.hp2 HG02630.hp1 HG03540.hp2 HG04199.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0032 a0002c0001 a0001c0003 a0001c0032 a0002c0001	a0001c0003t0004 a0001c0003t0007 a0001c0032t0018 others(1): Show a0001c0003t0004 a0001c0003t0007 a0001c0032t0018 a0002c0001t0019	a0001c0003t0004g0254 a0001c0003t0007g0074 a0001c0003t0007g0087 others(2): Show a0001c0003t0004g0254 a0001c0003t0007g0074 a0001c0003t0007g0087 a0001c0032t0018g0185 a0002c0001t0019g0225	5	316	0.0158	37	c.257 others(56): Show c.2578-6734_2578-6733insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50679032	A A	ATGGGGAG others(30): Show ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0063 a0001c0004t0007g0063	1	316	0.0032	37	c.257 others(56): Show c.2578-6919_2578-6918insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55438003	G G	GCAGCCCC others(30): Show GCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG03579.hp2 others(1): Show HG02630.hp2 HG03098.hp1 HG03579.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0001t0001 a0001c0001t0003 a0001c0001t0028	a0001c0001t0001g0097 a0001c0001t0003g0168 a0001c0001t0003g0169 others(1): Show a0001c0001t0001g0097 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0028g0170	4	372	0.0108	37	c.827 others(52): Show c.827-286_827-250dupGGGGCCTGGACGCCTGGGTCTGAGGGAGGA GGGGCTG	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	2/3			chr19	TogoVar
SHISAL1_chr22_44238665_44317951	44256194	A A	AACTCACA others(30): Show AACTCACACCATCAGCTCTCCTGGGTCTCAGGCCCTTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00558.hp2 others(43): Show HG00423.hp1 HG00558.hp1 HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02155.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp1 HG03927.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18980.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19030.hp2 NA19065.hp1 NA19067.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0019 others(38): Show a0001c0002 a0001c0016 a0001c0019 a0001c0020 a0001c0027 a0001c0033 a0001c0038 a0001c0051 a0001c0059 a0001c0075 a0001c0153 a0001c0155 a0001c0159 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0227 a0001c0229 a0001c0233 a0001c0243 a0001c0248 a0001c0249 a0001c0253 a0001c0259 a0001c0260 a0001c0274 a0001c0275 a0001c0293 a0001c0296 a0001c0297 a0001c0298 a0001c0325 a0001c0329 a0001c0351	a0001c0002t0001 a0001c0016t0001 a0001c0019t0011 others(38): Show a0001c0002t0001 a0001c0016t0001 a0001c0019t0011 a0001c0020t0022 a0001c0027t0022 a0001c0033t0060 a0001c0038t0010 a0001c0051t0027 a0001c0059t0027 a0001c0075t0036 a0001c0153t0048 a0001c0155t0011 a0001c0159t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0002 a0001c0197t0001 a0001c0198t0001 a0001c0199t0014 a0001c0200t0014 a0001c0201t0094 a0001c0202t0001 a0001c0203t0001 a0001c0227t0035 a0001c0229t0035 a0001c0233t0004 a0001c0243t0011 a0001c0248t0001 a0001c0249t0001 a0001c0253t0001 a0001c0259t0001 a0001c0260t0001 a0001c0274t0001 a0001c0275t0001 a0001c0293t0001 a0001c0296t0040 a0001c0297t0011 a0001c0298t0011 a0001c0325t0001 a0001c0329t0001 a0001c0351t0010	a0001c0002t0001g0006 a0001c0002t0001g0278 a0001c0016t0001g0081 others(42): Show a0001c0002t0001g0006 a0001c0002t0001g0278 a0001c0016t0001g0081 a0001c0016t0001g0082 a0001c0019t0011g0242 a0001c0019t0011g0300 a0001c0020t0022g0140 a0001c0020t0022g0252 a0001c0027t0022g0307 a0001c0033t0060g0303 a0001c0038t0010g0308 a0001c0051t0027g0138 a0001c0059t0027g0129 a0001c0075t0036g0013 a0001c0153t0048g0052 a0001c0155t0011g0251 a0001c0159t0001g0358 a0001c0194t0001g0197 a0001c0195t0001g0198 a0001c0196t0002g0266 a0001c0197t0001g0273 a0001c0198t0001g0277 a0001c0199t0014g0021 a0001c0200t0014g0026 a0001c0201t0094g0311 a0001c0202t0001g0289 a0001c0203t0001g0196 a0001c0227t0035g0075 a0001c0229t0035g0139 a0001c0233t0004g0354 a0001c0243t0011g0261 a0001c0248t0001g0238 a0001c0249t0001g0239 a0001c0253t0001g0223 a0001c0259t0001g0356 a0001c0260t0001g0355 a0001c0274t0001g0338 a0001c0275t0001g0285 a0001c0293t0001g0159 a0001c0296t0040g0017 a0001c0297t0011g0130 a0001c0298t0011g0299 a0001c0325t0001g0237 a0001c0329t0001g0319 a0001c0351t0010g0302	46	380	0.1211	37	c.600 others(54): Show c.600-6510_600-6509insCAAGGGCCTGAGACCCAGGAGAGCTGAT GGTGTGAGT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTGTCT others(30): Show GTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(24): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00733.hp2 HG01123.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03927.hp1 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18975.hp2 NA18988.hp1 NA18998.hp2 NA19003.hp2 NA19064.hp1 NA19076.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0053 a0001c0001t0060 a0001c0001t0072 a0001c0001t0078 a0001c0001t0083 a0001c0001t0101 a0001c0001t0111 a0001c0001t0128 a0001c0001t0145 a0001c0001t0153 a0001c0001t0155 a0001c0001t0156 a0001c0001t0158 a0002c0005t0186	a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0003g0001 others(23): Show a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0003g0001 a0001c0001t0006g0197 a0001c0001t0010g0008 a0001c0001t0010g0093 a0001c0001t0015g0199 a0001c0001t0022g0050 a0001c0001t0030g0167 a0001c0001t0031g0094 a0001c0001t0035g0179 a0001c0001t0036g0138 a0001c0001t0053g0101 a0001c0001t0060g0185 a0001c0001t0072g0114 a0001c0001t0078g0105 a0001c0001t0083g0106 a0001c0001t0101g0196 a0001c0001t0111g0061 a0001c0001t0128g0096 a0001c0001t0145g0001 a0001c0001t0153g0140 a0001c0001t0155g0003 a0001c0001t0156g0003 a0001c0001t0158g0139 a0002c0005t0186g0092	27	220	0.1227	37	c.-43 others(48): Show c.-4313_-4312insTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGT ATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	382	0.0026	37	c.168 others(52): Show c.168+811_168+812insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	1	222	0.0045	37	c.118 others(58): Show c.1182-14722_1182-14721insAAAAAAAAAAAAAAAAATATATAT ATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM1_chr5_132817141_132835647	132829316	G G	GGGCTGAG others(30): Show GGGCTGAGGAATTGTCAAGGGGGCCAGTGCTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	396	0.0025	37	c.-50 others(56): Show c.-501+1277_-501+1278insAAGAAGGAGCACTGGCCCCCTTGACA ATTCCTCAGCC	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding	1/9			chr5	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(30): Show AATAAATAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0085 a0003c0003t0001g0085	1	218	0.0046	37	c.324 others(56): Show c.324-63928_324-63927insAATAATATATATATATATATATATAT ATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CGCTCACC others(30): Show CGCTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA19065.hp1 HG03831.hp1 NA19065.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0064 a0005c0009t0001g0073 a0005c0009t0001g0064 a0005c0009t0001g0073	2	242	0.0083	37	c.36 others(48): Show c.3641_*3642insTGTGAGCGGGGCTGGGGTGAGCGGGGCCGGGGTG AGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SIGIRR_chr11_400716_419999	411321	G G	GTGGTCCA others(30): Show GTGGTCCAGCTCTGACCATGTCTGAATGCAGTCGGAGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0050 a0004c0005t0001g0050	1	242	0.0041	37	c.-15 others(56): Show c.-153-1295_-153-1294insACTCCGACTGCATTCAGACATGGTCA GAGCTGGACCA	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412168	G G	GGAGGGGT others(30): Show GGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp2 HG02300.hp1 HG01346.hp1 HG01928.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015	3	242	0.0124	37	c.-15 others(56): Show c.-153-2142_-153-2141insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK2_chr11_111597449_111735855	111628453	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	198	0.0051	37	c.316 others(54): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14			chr11	TogoVar
SIK2_chr11_111597449_111735855	111660547	A A	ACCAGGTA others(30): Show ACCAGGTATATATCTGGTATATACCATGGCAGACCAGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	198	0.0051	37	c.317 others(56): Show c.317-27454_317-27453insCCAGGTATATATCTGGTATATACCAT GGCAGACCAGG	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14			chr11	TogoVar
SIK3_chr11_116838402_117103428	116844635	T T	TATATTAT others(30): Show TATATTATATATTATATATATAATATATATATAATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG00099.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0076 a0001c0001t0012g0082 a0001c0001t0012g0076 a0001c0001t0012g0082	2	366	0.0055	37	c.10 others(48): Show c.1007_*1008insTATATTATATATATATTATATATATAATATATAA TAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	25/25	1760		chr11	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00323.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0305 a0001c0001t0018g0303 a0001c0001t0004g0305 a0001c0001t0018g0303	2	349	0.0057	37	c.-23 others(48): Show c.-2399_-2398insATATATATATATATATATTTTTTTTTTTTTTTTT TTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0302 a0001c0001t0004g0302	1	349	0.0029	37	c.-23 others(48): Show c.-2399_-2398insATATATATATATATATATATATTTTTTTTTTTTT TTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	349	0.0029	37	c.-23 others(48): Show c.-2399_-2398insATATATATATATATATATATATATTTTTTTTTTT TTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232415723	C C	CAGTCAGT others(30): Show CAGTCAGTCAGAACACGGGCACCACTGCCCCCTCCCAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0176 a0001c0005t0001g0176	1	292	0.0034	37	c.463 others(53): Show c.4631-135_4631-99dupCTGGGAGGGGGCAGTGGTGCCCGTGTTCT GACTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(30): Show TGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	37	c.21 others(48): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCT CTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SKAP1_chr17_48128442_48435214	48204973	T T	TTTTCTTT others(30): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG04184.hp2 others(1): Show HG00140.hp2 HG01167.hp1 HG04184.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159	4	292	0.0137	37	c.281 others(56): Show c.281-15474_281-15473insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	292	0.0034	37	c.46+ others(54): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2312852	G G	GGGTCCCG others(30): Show GGGTCCCGACCCTCCCCACAGAAACTGCCCTGTCTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	330	0.0030	37	c.60 others(48): Show c.6087_*6088insGGTCCCGACCCTCCCCACAGAAACTGCCCTGTCT ACT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding		2640		chr1	TogoVar
SKOR2_chr18_47201169_47256660	47213382	T T	TATATTTA others(30): Show TATATTTATATATATCATATAAATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA20905.hp2 HG02698.hp2 NA20905.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0148 a0002c0008t0002g0149 a0002c0008t0002g0148 a0002c0008t0002g0149	2	344	0.0058	37	c.298 others(56): Show c.2986-1268_2986-1232dupTATATATATATAATATTTATATGATA TATATAAATAT	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	7/8			chr18	TogoVar
SLC11A2_chr12_50980992_51031384	50993992	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0180 a0001c0002t0003g0180	1	370	0.0027	37	c.107 others(54): Show c.1077+551_1077+552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLC11A2	ENSG00000110911.17	transcript	ENST00000262052.9	protein_coding	11/15			chr12	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	354	0.0028	37	c.104 others(56): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATATAATTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0021 a0001c0002t0009g0021	1	354	0.0028	37	c.104 others(56): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATATATATT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46655829	A A	ATACAGTA others(30): Show ATACAGTATATATTATACTGTATATAATATATATACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0364 a0001c0023t0001g0364	1	390	0.0026	37	c.-44 others(48): Show c.-4445_-4409dupCAGTATATATATTATATACAGTATAATATATACT GTA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4371		chr20	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18975.hp1 NA18982.hp2 others(2): Show HG02698.hp2 NA18975.hp1 NA18982.hp2 NA19081.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0258 a0002c0003t0001g0059 a0002c0003t0001g0060	5	432	0.0116	37	c.527 others(52): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A4_chr1_110357857_110396026	110387819	T T	TTTCTAGG others(30): Show TTTCTAGGGGGAAAATGAGATTCCCCTAAAATAACATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(254): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0007t0003 a0002c0003t0001 a0002c0003t0004 a0002c0003t0011 a0002c0003t0012 a0002c0003t0016 a0002c0003t0019 a0004c0006t0001 a0005c0008t0003	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(179): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0188 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0099 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0231 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0001t0005g0011 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0034 a0001c0001t0013g0287 a0001c0001t0017g0282 a0001c0001t0018g0281 a0001c0007t0003g0120 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0066 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0112 a0002c0003t0004g0062 a0002c0003t0004g0063 a0002c0003t0004g0064 a0002c0003t0004g0065 a0002c0003t0004g0076 a0002c0003t0004g0077 a0002c0003t0004g0078 a0002c0003t0004g0079 a0002c0003t0004g0080 a0002c0003t0004g0113 a0002c0003t0011g0067 a0002c0003t0012g0075 a0002c0003t0016g0069 a0002c0003t0019g0295 a0004c0006t0001g0235 a0005c0008t0003g0109	257	432	0.5949	37	c.87+ others(52): Show c.87+1417_87+1418insTATGTTATTTTAGGGGAATCTCATTTTCCC CCTAGAA	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	2/8			chr1	TogoVar
SLC16A4_chr1_110357857_110396026	110387819	T T	TTTCTAGG others(30): Show TTTCTAGGGGGAAAATGAGATTCCCCTAAAATAACGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	432	0.0023	37	c.87+ others(52): Show c.87+1417_87+1418insTACGTTATTTTAGGGGAATCTCATTTTCCC CCTAGAA	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	2/8			chr1	TogoVar
SLC16A6_chr17_68262026_68296127	68266378	T T	TGTATATA others(30): Show TGTATATATATGTATATATATACTTTTTTGTATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18944.hp2 NA18947.hp2 others(3): Show HG02129.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA19062.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0211 a0001c0001t0002g0006 a0001c0001t0002g0211	6	408	0.0147	37	c.26 others(48): Show c.2681_*2717dupTTTTTATACAAAAAAGTATATATATACATATATA TAC	SLC16A6	ENSG00000108932.13	transcript	ENST00000580666.6	protein_coding		647		chr17	TogoVar
SLC17A7_chr19_49424401_49446527	49427666	A A	ACTCCTGG others(30): Show ACTCCTGGGTCCGAGGGAGGAGGGGCTGGGGGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp1 others(4): Show HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02723.hp1 HG03130.hp1 HG03209.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0104 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0150 a0002c0002t0001g0063	7	414	0.0169	37	c.28 others(48): Show c.2852_*2853insCCCAGGCCCCCAGCCCCTCCTCCCTCGGACCCAG GAG	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		1734		chr19	TogoVar
SLC17A7_chr19_49424401_49446527	49427714	C C	CGAGGGAG others(30): Show CGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	414	0.0048	37	c.28 others(48): Show c.2804_*2805insAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCC CTC	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		1686		chr19	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	304	0.0033	37	c.184 others(54): Show c.184-2009_184-2008insCCTTCCTTCCTTCCTTTTCTTTCTTTCT TTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792283	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	304	0.0033	37	c.184 others(54): Show c.184-2012_184-2011insTTCTTTCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0004 a0002c0004t0005g0004	1	304	0.0033	37	c.184 others(54): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC25A17_chr22_40764630_40824346	40820663	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	326	0.0031	37	c.-14 others(48): Show c.-1416_-1415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		1318		chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17584422	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	410	0.0024	37	c.409 others(52): Show c.409+891_409+892insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAA	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A4_chr4_185138266_185155382	185141271	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG04199.hp2 HG04204.hp2 others(4): Show HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18973.hp2 NA18985.hp2 NA19067.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0004 a0001c0001t0005g0008	7	444	0.0158	37	c.-21 others(48): Show c.-2102_-2101insCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCT TTC	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		1994		chr4	TogoVar
SLC26A4_chr7_107655828_107722809	107686441	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	366	0.0027	37	c.100 others(56): Show c.1002-2597_1002-2596insCTTTCTTTCTTCTTTCTTTCTTTTTC TTTCTTTCTTT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar

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