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 limited to 10,000 hits. Refine your search for more specific results.

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
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp2 HG02738.hp1 others(2): Show HG00733.hp1 HG01884.hp2 HG02738.hp1 HG03139.hp1 NA19240.hp1	a0003 a0008 a0014 a0003 a0008 a0014	a0003c0005 a0003c0010 a0008c0012 others(1): Show a0003c0005 a0003c0010 a0008c0012 a0014c0026	a0003c0005t0003 a0003c0010t0003 a0008c0012t0002 others(1): Show a0003c0005t0003 a0003c0010t0003 a0008c0012t0002 a0014c0026t0001	a0003c0005t0003g0083 a0003c0010t0003g0084 a0008c0012t0002g0043 others(2): Show a0003c0005t0003g0083 a0003c0010t0003g0084 a0008c0012t0002g0043 a0008c0012t0002g0167 a0014c0026t0001g0046	5	368	0.0136	24	c.108 others(41): Show c.1081-380_1081-357dupAGGAAGGAAGGAAGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(59): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02257.hp2 HG02523.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG03130.hp1 HG03239.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0014 a0035	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0006c0011 a0007c0013 a0007c0034 a0007c0062 a0014c0026 a0035c0067	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0003t0001 a0002c0003t0004 a0002c0004t0003 a0002c0007t0002 a0002c0007t0003 a0002c0017t0002 a0002c0017t0004 a0006c0011t0002 a0007c0013t0001 a0007c0034t0001 a0007c0062t0002 a0014c0026t0001 a0035c0067t0003	a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0131 others(59): Show a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0244 a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0146 a0001c0001t0002g0175 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0002g0289 a0001c0001t0002g0309 a0001c0001t0002g0331 a0001c0002t0002g0044 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0138 a0001c0002t0002g0187 a0001c0002t0002g0262 a0001c0002t0002g0275 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0006t0002g0254 a0001c0006t0002g0258 a0001c0006t0002g0259 a0001c0008t0001g0246 a0001c0008t0002g0255 a0002c0003t0001g0141 a0002c0003t0001g0194 a0002c0003t0001g0250 a0002c0003t0001g0257 a0002c0003t0001g0328 a0002c0003t0004g0292 a0002c0003t0004g0336 a0002c0004t0003g0020 a0002c0004t0003g0075 a0002c0004t0003g0192 a0002c0004t0003g0348 a0002c0007t0002g0346 a0002c0007t0003g0293 a0002c0007t0003g0326 a0002c0007t0003g0329 a0002c0017t0002g0323 a0002c0017t0004g0261 a0006c0011t0002g0041 a0007c0013t0001g0172 a0007c0013t0001g0211 a0007c0013t0001g0319 a0007c0034t0001g0357 a0007c0062t0002g0356 a0014c0026t0001g0026 a0035c0067t0003g0223	62	368	0.1685	24	c.108 others(41): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGACGGAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0269 a0001c0008t0001g0269	1	368	0.0027	24	c.108 others(41): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGACGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG02809.hp1 others(2): Show HG01496.hp2 HG02630.hp1 HG02809.hp1 HG03195.hp2 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0004c0005t0010 a0002c0003t0001 a0004c0005t0010	a0002c0003t0001g0335 a0002c0003t0001g0340 a0002c0003t0001g0342 others(2): Show a0002c0003t0001g0335 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0391 a0004c0005t0010g0272	5	406	0.0123	24	c.-18 others(43): Show c.-187-7499_-187-7476dupCACACACACACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00673.hp2 others(38): Show HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02965.hp1 HG03688.hp1 HG04184.hp1 HG04184.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19087.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008	a0001c0001t0002 a0001c0001t0026 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0026 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0002c0003t0001 a0002c0008t0001	a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 others(38): Show a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0026g0171 a0001c0002t0003g0069 a0001c0002t0005g0109 a0001c0002t0005g0137 a0001c0002t0005g0148 a0001c0002t0005g0170 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0006g0168 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0136 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0008t0001g0212 a0002c0008t0001g0382	41	406	0.1010	24	c.-18 others(45): Show c.-188+12228_-188+12251dupCTTCCTTCCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708573	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	406	0.0025	24	c.-18 others(45): Show c.-188+12223_-188+12224insTTTCCTTCCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00621.hp2 others(24): Show HG00280.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02698.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03834.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18956.hp1 NA18977.hp1 NA18984.hp1 NA18987.hp1 NA19043.hp2 NA19081.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0053 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0003g0002 others(17): Show a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0003g0002 a0001c0001t0006g0065 a0001c0001t0007g0012 a0001c0001t0007g0035 a0001c0001t0008g0002 a0001c0001t0008g0035 a0001c0001t0008g0064 a0001c0001t0013g0002 a0001c0001t0013g0151 a0001c0001t0014g0129 a0001c0001t0015g0006 a0001c0001t0015g0136 a0001c0001t0018g0006 a0001c0001t0021g0002 a0001c0001t0028g0033 a0001c0001t0053g0006 a0002c0002t0003g0002 a0002c0002t0005g0144	27	428	0.0631	24	c.-20 others(35): Show c.-2098_-2097insAGATAGATAGATAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCATCC others(17): Show ATCCATCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	310	0.0032	24	c.169 others(41): Show c.169-2774_169-2773insATCCTTCCTTCCTTCCTTCCTTCC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp2 HG02895.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0043 a0001c0001t0002g0061	2	310	0.0065	24	c.169 others(41): Show c.169-2732_169-2731insCCTTCCTTCCTTCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19062.hp1 HG02083.hp2 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0187 a0002c0002t0003g0135 a0002c0002t0003g0187	2	380	0.0053	24	c.535 others(41): Show c.535+9548_535+9571dupTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACGC others(17): Show GCGCACGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0141 a0002c0002t0003g0141	1	380	0.0026	24	c.535 others(41): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGCGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(17): Show GCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0116 a0002c0002t0002g0116	1	380	0.0026	24	c.535 others(41): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 NA18982.hp1 others(4): Show HG00733.hp1 HG01175.hp2 NA18982.hp1 NA18989.hp1 NA19063.hp1 NA19077.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0002t0003g0169 others(4): Show a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0216 a0002c0002t0003g0231	7	380	0.0184	24	c.535 others(41): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(17): Show ACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0214 a0002c0002t0003g0214	1	380	0.0026	24	c.535 others(41): Show c.535+9531_535+9532insGGGGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG03486.hp2 others(1): Show HG02622.hp2 HG03098.hp2 HG03486.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0002c0024 a0001c0003 a0002c0005 a0002c0024	a0001c0003t0026 a0002c0005t0123 a0002c0005t0150 others(1): Show a0001c0003t0026 a0002c0005t0123 a0002c0005t0150 a0002c0024t0060	a0001c0003t0026g0014 a0002c0005t0123g0183 a0002c0005t0150g0281 others(1): Show a0001c0003t0026g0014 a0002c0005t0123g0183 a0002c0005t0150g0281 a0002c0024t0060g0031	4	298	0.0134	24	c.236 others(43): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0260 a0009c0025t0003g0260	1	298	0.0034	24	c.227 others(43): Show c.2270-4608_2270-4585dupATATATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19078.hp1 NA19066.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0019 a0002c0002t0005 a0002c0002t0019	a0002c0002t0005g0256 a0002c0002t0019g0159 a0002c0002t0005g0256 a0002c0002t0019g0159	2	298	0.0067	24	c.227 others(43): Show c.2270-4619_2270-4618insGTGTATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0045 a0002c0002t0051g0045	1	298	0.0034	24	c.227 others(43): Show c.2270-4619_2270-4618insGTATATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	298	0.0034	24	c.-37 others(35): Show c.-3736_-3735insCTCTCTCTCTCTCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AARS1_chr16_70247298_70294506	70280105	C C	CAATTTTT others(17): Show CAATTTTTCTCTTTTCCTTTCAGAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	362	0.0028	24	c.144 others(41): Show c.144+2514_144+2515insATCTGAAAGGAAAAGAGAAAAATT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	2/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289747	C C	CCCGCCCC others(17): Show CCCGCCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 NA18990.hp1 HG02735.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0093 a0001c0001t0001g0102	2	362	0.0055	24	c.-34 others(33): Show c.-349_-348insCGGGGGGGGGGCGGGGGGGGGCGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		242		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(17): Show CCGCCCCCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	362	0.0028	24	c.-35 others(33): Show c.-358_-357insCGGGGGGGGCGGGGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(17): Show CCGCCCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	362	0.0028	24	c.-35 others(33): Show c.-358_-357insCGGGGGGGGGGCGGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289766	C C	CCCCGCCC others(17): Show CCCCGCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	362	0.0028	24	c.-36 others(33): Show c.-368_-367insCGGGGGGGGGGCGGGGGGGGCGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		261		chr16	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 NA18964.hp1 others(1): Show HG02257.hp1 HG02258.hp2 NA18964.hp1 NA19012.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0001 a0006c0009t0004 a0002c0002t0001 a0006c0009t0004	a0002c0002t0001g0122 a0002c0002t0001g0123 a0006c0009t0004g0029 a0002c0002t0001g0122 a0002c0002t0001g0123 a0006c0009t0004g0029	4	382	0.0105	24	c.351 others(39): Show c.351+827_351+828insTGTGTGTGTGTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(17): Show GAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	245	0.0041	24	c.139 others(45): Show c.1398+10551_1398+10552insGAGGAAGGAAGGAAGGAAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABAT_chr16_8669617_8789570	8710717	A A	AGGGAGAG others(17): Show AGGGAGAGGGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0062 a0002c0005t0001g0062	1	362	0.0028	24	c.-41 others(43): Show c.-41-24981_-41-24980insGGAGAGGGAGAGAGAGAGAGAGGG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	362	0.0028	24	c.-41 others(43): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01496.hp1 others(22): Show HG00140.hp1 HG00673.hp2 HG01496.hp1 HG02015.hp2 HG02132.hp1 HG02280.hp1 HG02895.hp2 HG03130.hp1 HG03239.hp2 HG03834.hp2 NA18945.hp2 NA18946.hp2 NA18955.hp2 NA18975.hp2 NA18979.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19076.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0022 others(5): Show a0001c0001 a0001c0003 a0001c0022 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0042 a0001c0003t0003 a0001c0003t0004 a0001c0022t0002 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0006t0001 a0005c0019t0002	a0001c0001t0001g0081 a0001c0001t0001g0201 a0001c0001t0001g0283 others(22): Show a0001c0001t0001g0081 a0001c0001t0001g0201 a0001c0001t0001g0283 a0001c0001t0002g0067 a0001c0001t0009g0284 a0001c0001t0042g0087 a0001c0003t0003g0126 a0001c0003t0003g0224 a0001c0003t0003g0263 a0001c0003t0003g0267 a0001c0003t0003g0304 a0001c0003t0004g0103 a0001c0022t0002g0262 a0002c0002t0002g0018 a0002c0002t0002g0073 a0002c0002t0006g0169 a0002c0002t0007g0007 a0002c0002t0008g0168 a0002c0002t0009g0192 a0002c0004t0001g0223 a0002c0004t0001g0282 a0002c0004t0002g0174 a0002c0005t0001g0225 a0002c0006t0001g0124 a0005c0019t0002g0164	25	362	0.0691	24	c.-41 others(43): Show c.-41-24969_-41-24968insAGAGAGAGAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711810	G G	GGATGGAT others(17): Show GGATGGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0031 a0002c0007t0013g0031	1	362	0.0028	24	c.-41 others(43): Show c.-41-23871_-41-23870insTGGATAGATGGATGGATGGATGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0018 a0002c0007t0013 a0002c0007t0018	a0002c0007t0013g0031 a0002c0007t0018g0317 a0002c0007t0013g0031 a0002c0007t0018g0317	2	362	0.0055	24	c.70+ others(39): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(17): Show GAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	362	0.0028	24	c.70+ others(39): Show c.70+2181_70+2182insAGGAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01192.hp1 HG01496.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0003 a0002c0005t0001 a0002c0006t0003	a0002c0005t0001g0225 a0002c0006t0003g0023 a0002c0005t0001g0225 a0002c0006t0003g0023	2	362	0.0055	24	c.70+ others(39): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0158 a0001c0003t0036g0158	1	362	0.0028	24	c.70+ others(39): Show c.70+2181_70+2182insAGGAAGGAAGGAAGGAAGGAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0298 a0002c0005t0001g0298	1	362	0.0028	24	c.71- others(39): Show c.71-2556_71-2555insTATATATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743441	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0243 a0002c0002t0005g0243	1	362	0.0028	24	c.71- others(39): Show c.71-2556_71-2555insTATATATATATATATATATGTATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01243.hp1 others(9): Show HG00140.hp1 HG00408.hp1 HG01243.hp1 HG02055.hp2 HG02071.hp2 HG02630.hp1 HG02976.hp2 HG03130.hp1 NA18943.hp2 NA19077.hp2 NA19079.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0012 others(1): Show a0002c0002 a0002c0004 a0002c0012 a0002c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0020 a0002c0002t0027 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0012t0002 a0002c0017t0002	a0002c0002t0002g0018 a0002c0002t0002g0184 a0002c0002t0003g0094 others(9): Show a0002c0002t0002g0018 a0002c0002t0002g0184 a0002c0002t0003g0094 a0002c0002t0006g0169 a0002c0002t0020g0242 a0002c0002t0027g0178 a0002c0004t0003g0181 a0002c0004t0004g0115 a0002c0004t0004g0362 a0002c0004t0008g0176 a0002c0012t0002g0346 a0002c0017t0002g0044	12	362	0.0332	24	c.71- others(39): Show c.71-2556_71-2555insTATATATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(17): Show CATATACATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG04184.hp1 HG04228.hp2 others(6): Show HG02083.hp1 HG04184.hp1 HG04228.hp2 NA18951.hp1 NA18969.hp1 NA18982.hp2 NA18989.hp2 NA18994.hp2 NA19002.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0003 a0002c0002t0001 a0004c0004t0003	a0002c0002t0001g0002 a0002c0002t0001g0062 a0002c0002t0001g0095 others(5): Show a0002c0002t0001g0002 a0002c0002t0001g0062 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0119 a0002c0002t0001g0120 a0004c0004t0003g0271 a0004c0004t0003g0272	9	348	0.0259	24	c.336 others(43): Show c.3363+1235_3363+1236insATATATGTATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG03130.hp2 HG01109.hp2 HG02486.hp2 HG03130.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0005c0005 a0006c0007	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0005c0005t0004 a0005c0005t0015 a0006c0007t0004	a0005c0005t0004g0199 a0005c0005t0015g0217 a0006c0007t0004g0185 a0005c0005t0004g0199 a0005c0005t0015g0217 a0006c0007t0004g0185	3	348	0.0086	24	c.100 others(43): Show c.1006+4510_1006+4533dupAAAAAAAAAAAAAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02886.hp1 HG02965.hp2 others(3): Show HG02148.hp2 HG02886.hp1 HG02965.hp2 NA18965.hp1 NA19068.hp1 NA20752.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0004c0006 a0005c0013 a0004c0004 a0004c0006 a0005c0013	a0004c0004t0003 a0004c0006t0003 a0005c0013t0001 a0004c0004t0003 a0004c0006t0003 a0005c0013t0001	a0004c0004t0003g0207 a0004c0004t0003g0242 a0004c0004t0003g0256 others(3): Show a0004c0004t0003g0207 a0004c0004t0003g0242 a0004c0004t0003g0256 a0004c0006t0003g0104 a0004c0006t0003g0122 a0005c0013t0001g0039	6	348	0.0172	24	c.100 others(43): Show c.1006+3856_1006+3857insATATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18975.hp2 NA19086.hp2 NA18974.hp2 NA18975.hp2 NA19086.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0003 a0002c0002t0001 a0004c0006t0003	a0002c0002t0001g0032 a0004c0006t0003g0033 a0004c0006t0003g0034 a0002c0002t0001g0032 a0004c0006t0003g0033 a0004c0006t0003g0034	3	348	0.0086	24	c.-17 others(39): Show c.-172+30_-172+31insATATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989183	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01975.hp2 others(1): Show HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02486.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0027 a0003c0066 a0001c0010 a0002c0027 a0003c0066	a0001c0010t0009 a0002c0027t0003 a0003c0066t0004 a0001c0010t0009 a0002c0027t0003 a0003c0066t0004	a0001c0010t0009g0001 a0002c0027t0003g0073 a0002c0027t0003g0074 others(1): Show a0001c0010t0009g0001 a0002c0027t0003g0073 a0002c0027t0003g0074 a0003c0066t0004g0104	4	198	0.0202	24	c.382 others(41): Show c.3829+122_3829+145dupATATATATATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0171 a0001c0006t0002g0171	1	198	0.0051	24	c.382 others(41): Show c.3829+141_3829+142insATATATATATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01074.hp2 others(44): Show HG00438.hp1 HG00438.hp2 HG01074.hp2 HG01106.hp2 HG01255.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 NA18522.hp2 NA18906.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0012 a0014 a0019	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0001c0025 a0001c0032 a0001c0033 a0001c0040 a0001c0049 a0002c0007 a0002c0013 a0003c0014 a0003c0020 a0004c0061 a0006c0019 a0007c0024 a0010c0055 a0012c0052 a0014c0038 a0019c0047	a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 others(31): Show a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0006t0002 a0001c0006t0005 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0011t0001 a0001c0016t0002 a0001c0016t0005 a0001c0021t0003 a0001c0021t0010 a0001c0025t0003 a0001c0032t0006 a0001c0033t0026 a0001c0040t0008 a0001c0049t0002 a0002c0007t0003 a0002c0013t0003 a0002c0013t0008 a0003c0014t0002 a0003c0020t0001 a0004c0061t0015 a0006c0019t0001 a0007c0024t0005 a0010c0055t0010 a0012c0052t0001 a0014c0038t0008 a0019c0047t0003	a0001c0001t0012g0192 a0001c0002t0001g0027 a0001c0002t0001g0028 others(44): Show a0001c0001t0012g0192 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0002t0001g0141 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0122 a0001c0003t0001g0166 a0001c0003t0011g0120 a0001c0003t0011g0139 a0001c0004t0001g0042 a0001c0004t0001g0092 a0001c0004t0001g0127 a0001c0005t0001g0125 a0001c0005t0003g0077 a0001c0006t0002g0124 a0001c0006t0005g0152 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0011t0001g0126 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0025t0003g0064 a0001c0032t0006g0041 a0001c0033t0026g0193 a0001c0040t0008g0186 a0001c0049t0002g0057 a0002c0007t0003g0069 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0003c0014t0002g0101 a0003c0020t0001g0106 a0004c0061t0015g0181 a0006c0019t0001g0096 a0006c0019t0001g0100 a0007c0024t0005g0093 a0010c0055t0010g0184 a0012c0052t0001g0128 a0014c0038t0008g0195 a0019c0047t0003g0052	47	198	0.2374	24	c.382 others(41): Show c.3829+141_3829+142insATATATATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215065297	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0006 a0001c0022t0006	a0001c0022t0006g0112 a0001c0022t0006g0112	1	198	0.0051	24	c.164 others(41): Show c.164-1102_164-1079dupTTTTTTTTTTTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134648	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0062 a0005c0062	a0005c0062t0004 a0005c0062t0004	a0005c0062t0004g0078 a0005c0062t0004g0078	1	198	0.0051	24	c.69+ others(39): Show c.69+3491_69+3492insGTTTGTCTCTCTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48341351	T T	TTCCTAGG others(17): Show TTCCTAGGAATTCTCTGCTCTGCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19030.hp1 HG01123.hp2 NA19030.hp1	a0007 a0026 a0007 a0026	a0007c0102 a0026c0026 a0007c0102 a0026c0026	a0007c0102t0001 a0026c0026t0001 a0007c0102t0001 a0026c0026t0001	a0007c0102t0001g0020 a0026c0026t0001g0053 a0007c0102t0001g0020 a0026c0026t0001g0053	2	178	0.0112	24	c.102 others(45): Show c.10204+2901_10204+2924dupAGGAATTCTCTGCTCTGCTCTCCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19060.hp1 HG02280.hp1 NA19060.hp1	a0009 a0068 a0009 a0068	a0009c0012 a0068c0067 a0009c0012 a0068c0067	a0009c0012t0002 a0068c0067t0009 a0009c0012t0002 a0068c0067t0009	a0009c0012t0002g0094 a0068c0067t0009g0142 a0009c0012t0002g0094 a0068c0067t0009g0142	2	178	0.0112	24	c.118 others(45): Show c.11874-1930_11874-1907dupACACACACACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0054 a0054	a0054c0048 a0054c0048	a0054c0048t0004 a0054c0048t0004	a0054c0048t0004g0159 a0054c0048t0004g0159	1	178	0.0056	24	c.148 others(45): Show c.14838-5905_14838-5882dupAAAAAAAAAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104794749	G G	GTATGGAG others(17): Show GTATGGAGAAATAATGAATAAAGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0112 a0002c0011t0004g0112	1	318	0.0031	24	c.538 others(41): Show c.5383-263_5383-240dupAGCTTTATTCATTATTTCTCCATA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49			chr9	TogoVar

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