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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ACACA_chr17_37079992_37411836	37228153	G G	GTAAATAC others(8): Show GTAAATACTTTTGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	299	0.0033	15	c.324 others(34): Show c.3247-1716_3247-1702dupTTTCAAAAGTATTTA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	25/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37364598	A A	AAAAAAAA others(8): Show AAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02258.hp1 others(4): Show HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02976.hp1 HG03041.hp1 HG04184.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0008 a0001c0003t0003	a0001c0001t0001g0293 a0001c0001t0007g0073 a0001c0002t0001g0133 others(4): Show a0001c0001t0001g0293 a0001c0001t0007g0073 a0001c0002t0001g0133 a0001c0002t0001g0269 a0001c0002t0008g0039 a0001c0002t0008g0042 a0001c0003t0003g0238	7	299	0.0234	15	c.39- others(32): Show c.39-24749_39-24748insCTTTTTCTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390305	T T	TTTATATA others(8): Show TTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp1 others(2): Show HG00733.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0005 a0001c0004t0031 a0001c0003t0001 a0001c0004t0005 a0001c0004t0031	a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 others(2): Show a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0004t0005g0276 a0001c0004t0031g0129	5	299	0.0167	15	c.38+ others(32): Show c.38+15956_38+15957insTATATATATATATAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37394215	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	299	0.0033	15	c.38+ others(32): Show c.38+12046_38+12047insAAAAAAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133864	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0089 a0001c0023t0001g0089	1	308	0.0033	15	c.-9- others(30): Show c.-9-5533_-9-5532insATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109157272	G G	GTTATTAT others(8): Show GTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(75): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18984.hp2 NA18992.hp2 NA18993.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0016 a0017 a0020 a0027 a0037 a0038	a0001c0010 a0001c0013 a0001c0032 others(30): Show a0001c0010 a0001c0013 a0001c0032 a0001c0034 a0001c0038 a0001c0045 a0001c0050 a0001c0109 a0001c0111 a0001c0124 a0002c0061 a0002c0110 a0003c0001 a0003c0005 a0003c0081 a0003c0083 a0004c0008 a0004c0040 a0004c0041 a0005c0009 a0005c0019 a0006c0026 a0007c0037 a0008c0044 a0010c0042 a0011c0027 a0012c0035 a0016c0047 a0017c0123 a0020c0052 a0027c0065 a0037c0072 a0038c0082	a0001c0010t0001 a0001c0010t0009 a0001c0013t0001 others(36): Show a0001c0010t0001 a0001c0010t0009 a0001c0013t0001 a0001c0032t0004 a0001c0034t0001 a0001c0038t0001 a0001c0045t0002 a0001c0050t0001 a0001c0109t0002 a0001c0111t0001 a0001c0124t0012 a0002c0061t0003 a0002c0110t0003 a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 a0003c0005t0002 a0003c0081t0002 a0003c0083t0001 a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0005c0009t0003 a0005c0009t0006 a0005c0019t0003 a0006c0026t0016 a0007c0037t0004 a0008c0044t0003 a0010c0042t0003 a0011c0027t0004 a0011c0027t0013 a0012c0035t0004 a0016c0047t0002 a0017c0123t0015 a0020c0052t0001 a0027c0065t0005 a0037c0072t0001 a0038c0082t0002	a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0013t0001g0153 others(75): Show a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0013t0001g0153 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0038t0001g0201 a0001c0045t0002g0146 a0001c0050t0001g0277 a0001c0050t0001g0278 a0001c0109t0002g0276 a0001c0111t0001g0275 a0001c0124t0012g0197 a0002c0061t0003g0062 a0002c0110t0003g0268 a0003c0001t0001g0064 a0003c0001t0001g0132 a0003c0001t0001g0138 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0142 a0003c0001t0001g0143 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0001g0178 a0003c0001t0001g0265 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0001t0004g0139 a0003c0001t0008g0128 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0129 a0003c0005t0002g0131 a0003c0005t0002g0134 a0003c0005t0002g0240 a0003c0005t0002g0245 a0003c0005t0002g0246 a0003c0005t0002g0264 a0003c0081t0002g0230 a0003c0083t0001g0151 a0004c0008t0001g0198 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0008t0008g0216 a0004c0008t0008g0219 a0004c0008t0008g0263 a0004c0040t0002g0215 a0004c0041t0002g0222 a0005c0009t0003g0061 a0005c0009t0003g0144 a0005c0009t0003g0164 a0005c0009t0003g0304 a0005c0009t0006g0148 a0005c0009t0006g0177 a0005c0019t0003g0135 a0005c0019t0003g0152 a0005c0019t0003g0271 a0006c0026t0016g0066 a0007c0037t0004g0073 a0008c0044t0003g0182 a0010c0042t0003g0209 a0010c0042t0003g0220 a0011c0027t0004g0150 a0011c0027t0013g0065 a0012c0035t0004g0063 a0012c0035t0004g0082 a0016c0047t0002g0175 a0016c0047t0002g0176 a0017c0123t0015g0058 a0020c0052t0001g0210 a0027c0065t0005g0225 a0037c0072t0001g0217 a0038c0082t0002g0127	78	308	0.2533	15	c.654 others(32): Show c.654-9576_654-9562dupTTATTATTATTATTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109157272	G G	GTTGTTAT others(8): Show GTTGTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp2 HG03130.hp2 HG03516.hp2	a0008 a0008	a0008c0015 a0008c0044 a0008c0015 a0008c0044	a0008c0015t0005 a0008c0044t0025 a0008c0015t0005 a0008c0044t0025	a0008c0015t0005g0168 a0008c0044t0025g0166 a0008c0015t0005g0168 a0008c0044t0025g0166	2	308	0.0065	15	c.654 others(32): Show c.654-9587_654-9586insGTTATTATTATTATT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG03486.hp1 HG02258.hp1 HG02717.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0016 a0002c0118 a0001c0010 a0001c0016 a0002c0118	a0001c0010t0009 a0001c0016t0009 a0002c0118t0005 a0001c0010t0009 a0001c0016t0009 a0002c0118t0005	a0001c0010t0009g0186 a0001c0016t0009g0305 a0002c0118t0005g0231 a0001c0010t0009g0186 a0001c0016t0009g0305 a0002c0118t0005g0231	3	308	0.0097	15	c.291 others(32): Show c.2914-280_2914-266dupAAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109224831	A A	ATGAGATG others(8): Show ATGAGATGACGTCTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01074.hp2 others(52): Show HG00323.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19009.hp2 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 others(13): Show a0001 a0002 a0006 a0007 a0009 a0011 a0015 a0017 a0021 a0026 a0027 a0030 a0032 a0033 a0035 a0039	a0001c0002 a0001c0003 a0001c0010 others(37): Show a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0001c0032 a0001c0039 a0001c0064 a0001c0069 a0001c0074 a0001c0095 a0001c0106 a0001c0107 a0001c0124 a0002c0017 a0002c0043 a0002c0070 a0002c0086 a0002c0092 a0002c0118 a0006c0026 a0006c0031 a0006c0113 a0006c0122 a0007c0037 a0007c0057 a0007c0104 a0009c0025 a0009c0096 a0011c0027 a0015c0114 a0015c0119 a0017c0123 a0021c0068 a0026c0066 a0027c0065 a0030c0071 a0032c0059 a0033c0063 a0035c0076 a0039c0080	a0001c0002t0001 a0001c0003t0004 a0001c0010t0009 others(41): Show a0001c0002t0001 a0001c0003t0004 a0001c0010t0009 a0001c0016t0009 a0001c0016t0011 a0001c0032t0004 a0001c0039t0004 a0001c0064t0009 a0001c0069t0002 a0001c0074t0004 a0001c0095t0001 a0001c0106t0001 a0001c0107t0012 a0001c0124t0012 a0002c0017t0003 a0002c0043t0003 a0002c0070t0005 a0002c0086t0003 a0002c0092t0010 a0002c0118t0005 a0006c0026t0002 a0006c0026t0016 a0006c0031t0004 a0006c0031t0013 a0006c0113t0004 a0006c0122t0004 a0007c0037t0004 a0007c0057t0004 a0007c0104t0004 a0009c0025t0001 a0009c0096t0009 a0011c0027t0004 a0011c0027t0013 a0015c0114t0004 a0015c0119t0004 a0017c0123t0015 a0021c0068t0001 a0026c0066t0015 a0027c0065t0005 a0030c0071t0002 a0032c0059t0002 a0033c0063t0010 a0035c0076t0010 a0039c0080t0010	a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0003t0004g0074 others(52): Show a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0003t0004g0074 a0001c0010t0009g0186 a0001c0016t0009g0287 a0001c0016t0009g0290 a0001c0016t0009g0305 a0001c0016t0011g0274 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0039t0004g0039 a0001c0039t0004g0116 a0001c0064t0009g0184 a0001c0069t0002g0204 a0001c0074t0004g0229 a0001c0095t0001g0133 a0001c0106t0001g0293 a0001c0107t0012g0196 a0001c0124t0012g0197 a0002c0017t0003g0042 a0002c0043t0003g0012 a0002c0070t0005g0199 a0002c0086t0003g0260 a0002c0092t0010g0192 a0002c0118t0005g0231 a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0113t0004g0031 a0006c0122t0004g0167 a0007c0037t0004g0073 a0007c0037t0004g0200 a0007c0057t0004g0207 a0007c0104t0004g0183 a0009c0025t0001g0105 a0009c0025t0001g0269 a0009c0025t0001g0270 a0009c0025t0001g0301 a0009c0096t0009g0295 a0011c0027t0004g0150 a0011c0027t0013g0065 a0015c0114t0004g0009 a0015c0119t0004g0169 a0017c0123t0015g0058 a0021c0068t0001g0202 a0026c0066t0015g0115 a0027c0065t0005g0225 a0030c0071t0002g0040 a0032c0059t0002g0038 a0033c0063t0010g0117 a0035c0076t0010g0267 a0039c0080t0010g0071	55	308	0.1786	15	c.388 others(32): Show c.3882+929_3882+930insAGATGACGTCTTGTG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132641560	T T	TGAAGAAG others(8): Show TGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	316	0.0032	15	c.537 others(30): Show c.537+397_537+411dupTTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132641686	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	316	0.0032	15	c.537 others(30): Show c.537+285_537+286insTTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132641698	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02809.hp2 HG02896.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0255 others(1): Show a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0255 a0003c0003t0001g0262	4	316	0.0127	15	c.537 others(30): Show c.537+259_537+273dupTTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACADM_chr1_75719709_75768679	75737279	A A	AATTATAT others(8): Show AATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	364	0.0028	15	c.468 others(32): Show c.468+2410_468+2411insTATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	364	0.0028	15	c.946 others(30): Show c.946-556_946-542dupAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADS_chr12_120720826_120745008	120733535	C C	CTGCCTGC others(8): Show CTGCCTGCTGAAATGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18969.hp1 NA18994.hp1 others(2): Show HG00323.hp2 NA18969.hp1 NA18994.hp1 NA19003.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0001 a0002c0004t0002 a0001c0001t0001 a0001c0005t0001 a0002c0004t0002	a0001c0001t0001g0246 a0001c0005t0001g0030 a0002c0004t0002g0213 a0001c0001t0001g0246 a0001c0005t0001g0030 a0002c0004t0002g0213	5	426	0.0117	15	c.211 others(32): Show c.211-3385_211-3371dupGCTGAAATGGTGCCT	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADVL_chr17_7214938_7230266	7219921	T T	TGGGCGTG others(8): Show TGGGCGTGCAGGACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0012 others(1): Show a0001c0001 a0001c0007 a0001c0012 a0001c0014	a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0007t0001g0001 a0001c0012t0001g0001 a0001c0014t0001g0001	187	398	0.4699	15	c.-64 others(22): Show c.-64_-63insGGGCGTGCAGGACGC	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding		16		chr17	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0054 a0001c0002t0004g0054	1	324	0.0031	15	c.176 others(32): Show c.1765+110_1765+111insATATATATTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02486.hp2 others(14): Show HG01928.hp1 HG01981.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp1 NA19060.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0032 a0001c0001t0034	a0001c0001t0003g0111 a0001c0001t0003g0122 a0001c0001t0003g0124 others(14): Show a0001c0001t0003g0111 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0142 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0313 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0009g0137 a0001c0001t0011g0087 a0001c0001t0011g0089 a0001c0001t0011g0090 a0001c0001t0032g0130 a0001c0001t0034g0020	17	324	0.0525	15	c.285 others(32): Show c.285+8007_285+8021dupTTTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195374705	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03041.hp1 HG03688.hp2 others(3): Show HG02135.hp1 HG03041.hp1 HG03688.hp2 NA18949.hp2 NA19060.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0282 others(3): Show a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0033g0261	6	324	0.0185	15	c.285 others(32): Show c.285+6289_285+6303dupAAAAGAAAAGAAAAG	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195377138	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG01884.hp2 others(4): Show HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02155.hp2 HG02451.hp2 NA18995.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0301 others(4): Show a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0002g0006 a0001c0001t0002g0303 a0001c0001t0017g0005	7	324	0.0216	15	c.285 others(32): Show c.285+3856_285+3870dupAAAAAAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18954.hp2 NA19077.hp2 HG03516.hp2 NA18954.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0004g0324 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0004g0324	3	386	0.0078	15	c.73- others(28): Show c.73-549_73-535dupTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151631	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0326 a0001c0003t0006g0326	1	386	0.0026	15	c.42 others(26): Show c.4241_*4242insAAAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACAT2_chr6_159757045_159784112	159771066	A A	AAAATTAA others(8): Show AAAATTAAATTAAATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02809.hp1 others(7): Show HG01099.hp1 HG02145.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03579.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0001 a0001c0002t0002 a0001c0005t0001	a0001c0002t0002g0029 a0001c0005t0001g0008 a0001c0005t0001g0058 others(1): Show a0001c0002t0002g0029 a0001c0005t0001g0008 a0001c0005t0001g0058 a0001c0005t0001g0081	10	404	0.0248	15	c.490 others(32): Show c.490+2452_490+2466dupTTAAATTAAATTAAA	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACBD3_chr1_226139679_226191741	226149529	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	396	0.0025	15	c.137 others(34): Show c.1376-2723_1376-2709dupAAAAAAAAAAAAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	7/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27207286	C C	CATAATAA others(8): Show CATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02723.hp1 NA18992.hp1 HG00438.hp1 HG02723.hp1 NA18992.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0003c0013 a0001c0005 a0003c0006 a0003c0013	a0001c0005t0002 a0003c0006t0004 a0003c0013t0004 a0001c0005t0002 a0003c0006t0004 a0003c0013t0004	a0001c0005t0002g0031 a0003c0006t0004g0143 a0003c0013t0004g0160 a0001c0005t0002g0031 a0003c0006t0004g0143 a0003c0013t0004g0160	3	384	0.0078	15	c.140 others(32): Show c.1404+945_1404+959dupTATTATTATTATTAT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	10/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	384	0.0026	15	c.375 others(32): Show c.375+2932_375+2933insAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp1 NA18969.hp2 others(1): Show HG01168.hp1 HG02055.hp1 NA18969.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0308 a0001c0002t0001g0254 a0001c0002t0001g0255 others(1): Show a0001c0001t0001g0308 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256	4	384	0.0104	15	c.375 others(32): Show c.375+2932_375+2933insAAAAAAAAATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	384	0.0026	15	c.375 others(32): Show c.375+2932_375+2933insAAAAAAAAAAATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	384	0.0026	15	c.375 others(32): Show c.375+2932_375+2933insAAAAAAAAAAAAATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228816	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp1 HG00140.hp2 HG00642.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0096	3	384	0.0078	15	c.375 others(32): Show c.375+2931_375+2932insTATATATATATATAT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180323865	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	334	0.0030	15	c.664 others(32): Show c.664-9158_664-9144dupAAAAAAAAAAAAAAA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180444286	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0277 a0001c0001t0003g0278	2	334	0.0060	15	c.385 others(34): Show c.385-14025_385-14024insTTTTTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7			chr1	TogoVar
ACE2_chrX_15556033_15605960	15601481	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	264	0.0038	15	c.-57 others(24): Show c.-571_-570insAAACAAAAAAAAAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		522		chrX	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TATAGAAT others(8): Show TATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(85): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18991.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0004c0007t0001 a0005c0009t0001	a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0038 others(85): Show a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0286 a0001c0001t0002g0327 a0001c0001t0003g0185 a0001c0003t0001g0361 a0001c0003t0001g0366 a0001c0003t0001g0372 a0001c0003t0001g0376 a0001c0004t0001g0380 a0001c0004t0001g0386 a0001c0004t0001g0387 a0002c0002t0001g0043 a0002c0002t0001g0052 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0129 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0288 a0002c0005t0001g0371 a0004c0007t0001g0026 a0005c0009t0001g0198	88	396	0.2222	15	c.93+ others(30): Show c.93+4088_93+4102dupTCTATTCTATTCTAT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER2_chr9_19404009_19457505	19428008	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02074.hp2 others(5): Show HG00438.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02738.hp2 NA18983.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0162 others(5): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0257 a0001c0001t0001g0292 a0002c0002t0001g0290	8	358	0.0224	15	c.365 others(32): Show c.365+3225_365+3239dupTCCTTTCCTTTCCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76856117	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02451.hp2 others(7): Show HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02809.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0026 a0001c0003t0027 a0001c0003t0139 others(3): Show a0001c0003t0026 a0001c0003t0027 a0001c0003t0139 a0001c0003t0140 a0001c0003t0145 a0002c0002t0117	a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0117 others(7): Show a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0117 a0001c0003t0027g0118 a0001c0003t0027g0119 a0001c0003t0027g0120 a0001c0003t0139g0122 a0001c0003t0140g0116 a0001c0003t0145g0113 a0002c0002t0117g0216	10	346	0.0289	15	c.-48 others(26): Show c.-4860_-4859insAAAATAAAATAAAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding		4800		chr11	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG03516.hp2 others(2): Show HG02258.hp2 HG02922.hp1 HG03516.hp2 HG04184.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0021 a0002c0002t0045 a0002c0002t0123 others(1): Show a0002c0002t0021 a0002c0002t0045 a0002c0002t0123 a0002c0004t0006	a0002c0002t0021g0006 a0002c0002t0021g0011 a0002c0002t0045g0009 others(2): Show a0002c0002t0021g0006 a0002c0002t0021g0011 a0002c0002t0045g0009 a0002c0002t0123g0007 a0002c0004t0006g0323	5	346	0.0145	15	c.103 others(34): Show c.103+14040_103+14054dupTTTTTTTTTTTTTTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TATTATAT others(8): Show TATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 NA19001.hp2 others(3): Show HG02074.hp2 HG02135.hp1 NA19001.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0071 a0001c0001t0005 a0001c0001t0071	a0001c0001t0005g0147 a0001c0001t0005g0153 a0001c0001t0005g0159 others(3): Show a0001c0001t0005g0147 a0001c0001t0005g0153 a0001c0001t0005g0159 a0001c0001t0005g0183 a0001c0001t0005g0189 a0001c0001t0071g0138	6	346	0.0173	15	c.497 others(32): Show c.497+7161_497+7162insTATATATATATACAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005982	T T	TATTATAT others(8): Show TATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00621.hp1 others(78): Show HG00099.hp2 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(35): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(78): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0008g0042 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0062 a0001c0001t0008g0084 a0001c0001t0008g0090 a0001c0001t0013g0019 a0001c0001t0018g0043 a0001c0001t0018g0049 a0001c0001t0018g0089 a0001c0001t0018g0094 a0001c0001t0022g0080 a0001c0001t0022g0081 a0001c0001t0022g0088 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0095 a0001c0001t0030g0067 a0001c0001t0031g0040 a0001c0001t0031g0048 a0001c0001t0032g0065 a0001c0001t0032g0066 a0001c0001t0033g0024 a0001c0001t0033g0061 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0035g0069 a0001c0001t0035g0070 a0001c0001t0036g0022 a0001c0001t0036g0044 a0001c0001t0038g0050 a0001c0001t0038g0093 a0001c0001t0062g0031 a0001c0001t0065g0082 a0001c0001t0066g0017 a0001c0001t0067g0059 a0001c0001t0068g0025 a0001c0001t0069g0079 a0001c0001t0072g0076 a0001c0001t0076g0051 a0001c0001t0077g0052 a0001c0001t0078g0033 a0001c0001t0079g0041 a0001c0001t0080g0086 a0001c0001t0081g0018 a0001c0001t0082g0053 a0001c0001t0083g0054 a0001c0001t0084g0060 a0001c0001t0085g0035 a0001c0001t0091g0075 a0001c0001t0092g0087 a0001c0001t0093g0083 a0001c0001t0127g0046 a0001c0001t0128g0072 a0001c0001t0129g0071	81	346	0.2341	15	c.497 others(32): Show c.497+7163_497+7164insTATATATATATACAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77010163	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02965.hp1 others(1): Show HG02451.hp1 HG02622.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0070 a0001c0001t0074 others(1): Show a0001c0001t0029 a0001c0001t0070 a0001c0001t0074 a0001c0001t0075	a0001c0001t0029g0202 a0001c0001t0070g0201 a0001c0001t0074g0129 others(1): Show a0001c0001t0029g0202 a0001c0001t0070g0201 a0001c0001t0074g0129 a0001c0001t0075g0200	4	346	0.0116	15	c.498 others(32): Show c.498-4832_498-4818dupTAATAATAATAATAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0018 a0001c0001t0081g0018	1	346	0.0029	15	c.39 others(26): Show c.3960_*3974dupAAAAAAAAAAAAAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42828092	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	342	0.0029	15	c.-38 others(32): Show c.-38+8382_-38+8383insATATATATTTTTTTT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCTTCCTT others(8): Show CCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA19000.hp1 HG00741.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	15	c.-32 others(26): Show c.-3233_-3232insCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	294	0.0034	15	c.226 others(32): Show c.2266-738_2266-724dupTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	15	c.226 others(32): Show c.2265+740_2265+754dupTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	294	0.0034	15	c.177 others(34): Show c.1771-1836_1771-1822dupTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02602.hp2 others(10): Show HG00639.hp1 HG00735.hp1 HG02602.hp2 NA18956.hp2 NA18975.hp1 NA18978.hp1 NA18991.hp2 NA19055.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	13	382	0.0340	15	c.57+ others(30): Show c.57+1440_57+1454dupAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840180	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18943.hp1 NA18949.hp1 others(2): Show HG03654.hp1 NA18943.hp1 NA18949.hp1 NA18988.hp2 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0004c0005t0001g0143	5	382	0.0131	15	c.57+ others(30): Show c.57+1454_57+1455insACAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840183	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	382	0.0026	15	c.57+ others(30): Show c.57+1454_57+1455insAAAACAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840194	C C	CAAAACAA others(8): Show CAAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	382	0.0026	15	c.57+ others(30): Show c.57+1455_57+1456insAAAACAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)