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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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
AMFR_chr16_56356452_56430545	56406094	A A	AGGGGGGG others(24): Show AGGGGGGGGAGAGGGGGGAGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	356	0.0028	31	c.667 others(46): Show c.667-851_667-850insCTCCCCCCTCCCCTCCCCCCTCTCCCCCCC C	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	356	0.0028	31	c.667 others(48): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMPH_chr7_38378704_38636373	38570999	C C	CTATATAT others(24): Show CTATATATAGAATATATATATTCATATATTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp1 HG02698.hp1 others(4): Show HG00741.hp2 HG02630.hp1 HG02698.hp1 HG02970.hp2 HG03540.hp1 HG04115.hp2 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0002c0004t0005 a0003c0006t0004	a0001c0001t0001g0091 a0001c0001t0001g0149 a0001c0001t0004g0009 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0149 a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0003t0002g0160 a0002c0004t0005g0051 a0003c0006t0004g0138	7	288	0.0243	31	c.70- others(48): Show c.70-35989_70-35988insTCAATATATGAATATATATATTCTATAT ATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38571281	T T	TTATATAT others(24): Show TTATATATGAATATATATATTTATATATAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	288	0.0035	31	c.70- others(48): Show c.70-36271_70-36270insTTCTATATATAAATATATATATTCATAT ATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMZ1_chr7_2683202_2724683	2706846	A A	AGCATCAT others(24): Show AGCATCATTGTCAATCAATCATCACCTTGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp1 others(19): Show HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0009 a0002c0007 others(3): Show a0001c0001 a0001c0009 a0002c0007 a0002c0010 a0002c0048 a0006c0049	a0001c0001t0030 a0001c0009t0043 a0001c0009t0047 others(12): Show a0001c0001t0030 a0001c0009t0043 a0001c0009t0047 a0001c0009t0133 a0001c0009t0158 a0002c0007t0013 a0002c0007t0049 a0002c0007t0156 a0002c0010t0003 a0002c0010t0131 a0002c0010t0144 a0002c0010t0151 a0002c0010t0157 a0002c0048t0013 a0006c0049t0025	a0001c0001t0030g0174 a0001c0001t0030g0321 a0001c0009t0043g0156 others(19): Show a0001c0001t0030g0174 a0001c0001t0030g0321 a0001c0009t0043g0156 a0001c0009t0043g0157 a0001c0009t0047g0152 a0001c0009t0047g0153 a0001c0009t0133g0143 a0001c0009t0158g0155 a0002c0007t0013g0047 a0002c0007t0013g0088 a0002c0007t0013g0161 a0002c0007t0013g0389 a0002c0007t0049g0042 a0002c0007t0156g0154 a0002c0010t0003g0041 a0002c0010t0003g0043 a0002c0010t0131g0046 a0002c0010t0144g0136 a0002c0010t0151g0045 a0002c0010t0157g0044 a0002c0048t0013g0390 a0006c0049t0025g0145	22	438	0.0502	31	c.473 others(48): Show c.473-1724_473-1723insCATCACCTTGTTGGCATCATTGTCAATC AAT	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18950.hp2 HG03491.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0154 a0001c0004t0003g0158 a0001c0004t0003g0154 a0001c0004t0003g0158	2	370	0.0054	31	c.247 others(48): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANGPT2_chr8_6494632_6568245	6505179	T T	TATATATA others(24): Show TATATATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(82): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG03017.hp2 HG03139.hp2 HG03669.hp2 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18978.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0004c0028 a0007c0033 a0008c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0025 a0001c0001t0034 a0001c0001t0056 a0001c0001t0061 a0001c0001t0074 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0003t0015 a0001c0003t0025 a0001c0003t0031 a0004c0028t0063 a0007c0033t0001 a0008c0024t0001	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 others(82): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0006g0266 a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0025 a0001c0001t0015g0033 a0001c0001t0015g0039 a0001c0001t0025g0047 a0001c0001t0034g0036 a0001c0001t0056g0245 a0001c0001t0061g0301 a0001c0001t0074g0327 a0001c0002t0001g0043 a0001c0002t0001g0068 a0001c0002t0001g0161 a0001c0002t0001g0214 a0001c0002t0003g0180 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0141 a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0168 a0001c0003t0001g0172 a0001c0003t0001g0224 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0237 a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0015g0041 a0001c0003t0025g0166 a0001c0003t0031g0018 a0004c0028t0063g0269 a0007c0033t0001g0231 a0008c0024t0001g0076	85	336	0.2530	31	c.132 others(50): Show c.1328-1919_1328-1918insTCTATATATACATAAGAATATATATA TATAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0258 a0001c0001t0006g0258	1	336	0.0030	31	c.288 others(44): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(24): Show GAAAGAGAAAGAAAGAAAAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02055.hp2 HG02976.hp2 others(1): Show HG00140.hp2 HG02055.hp2 HG02976.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0240 a0001c0001t0002g0154	4	422	0.0095	31	c.18 others(42): Show c.1859_*1860insTTCTTTCTTTCTTTTTTCTTTCTTTCTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANHX_chr12_133213312_133240877	133235695	G G	GCGCGCCC others(24): Show GCGCGCCCCTCACCCTCTGGGACCCCCGCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0149 a0002c0002t0002g0148 a0001c0001t0001g0149 a0002c0002t0002g0148	2	442	0.0045	31	c.-23 others(45): Show c.-23+81_-23+111dupGGGGCGGGGGTCCCAGAGGGTGAGGGGCGCG	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	1/9			chr12	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0153 a0002c0003t0001g0153	1	178	0.0056	31	c.85- others(48): Show c.85-24516_85-24515insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113334516	A A	ATAGAAAG others(24): Show ATAGAAAGTTAATAGATTAATTAATCTATTAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	178	0.0056	31	c.338 others(50): Show c.3380-1231_3380-1201dupAGTTAATAGATTAATTAATCTATTAC TAGAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113334646	G G	GGTTAATA others(24): Show GGTTAATAGATTAATTAATCTATTACTAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02280.hp2 others(2): Show HG01433.hp1 HG02055.hp1 HG02280.hp2 HG03225.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0134	5	178	0.0281	31	c.338 others(49): Show c.3380-1008_3380-978dupTAGATTAATTAATCTATTACTAGAAAG TTAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	296	0.0034	31	c.319 others(48): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKH_chr5_14699800_14876778	14793081	A A	ATATATAT others(24): Show ATATATATATAAATATTTATTTATTTATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19084.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0202 a0001c0001t0021g0203 a0001c0001t0021g0202 a0001c0001t0021g0203	2	232	0.0086	31	c.97- others(48): Show c.97-23921_97-23891dupATATATAAATAAATAAATATTTATATAT ATA	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKH_chr5_14699800_14876778	14816004	A A	ATCCTGGT others(24): Show ATCCTGGTTTCCAGCTAAAGACATTTTTTGGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0106 a0001c0002t0003g0106	1	232	0.0043	31	c.97- others(48): Show c.97-46844_97-46814dupGCCAAAAAATGTCTTTAGCTGGAAACCA GGA	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 HG02145.hp2 others(4): Show HG01934.hp1 HG01943.hp1 HG02145.hp2 HG02300.hp2 HG03017.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0238	7	362	0.0193	31	c.691 others(46): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89306121	G G	GACACGCG others(24): Show GACACGCGCCACTTACCTCCCCCTCCGCAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp2 HG03453.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0064 a0002c0002t0001g0065	2	310	0.0065	31	c.88- others(44): Show c.88-778_88-777insGTCTGCGGAGGGGGAGGTAAGTGGCGCGTGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89381354	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0263 a0001c0022t0001g0263	1	310	0.0032	31	c.-60 others(50): Show c.-60+36929_-60+36930insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG00597.hp1 HG01071.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0155 a0002c0002t0002g0233 a0001c0001t0001g0155 a0002c0002t0002g0233	2	310	0.0065	31	c.-60 others(48): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	292	0.0034	31	c.696 others(50): Show c.6962-1474_6962-1473insATATATATATATATATATATTTTTTT TTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	292	0.0034	31	c.696 others(50): Show c.6962-1474_6962-1473insATATATATATATATATATATATTTTT TTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19002.hp2 HG02257.hp1 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0254 a0001c0003t0003g0275 a0001c0003t0003g0254 a0001c0003t0003g0275	2	292	0.0069	31	c.696 others(50): Show c.6962-1474_6962-1473insATATATATATATATATATATATATTT TTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01257.hp1 HG00597.hp2 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0002 a0001c0003t0003 a0001c0005t0002	a0001c0003t0003g0252 a0001c0005t0002g0138 a0001c0003t0003g0252 a0001c0005t0002g0138	2	292	0.0069	31	c.696 others(50): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT TTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD22_chr10_88814896_88856844	88822544	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0020 a0001c0001t0038g0020	2	418	0.0048	31	c.39 others(40): Show c.396_*397insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	6/6	396		chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27104818	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	358	0.0028	31	c.-44 others(42): Show c.-4493_-4492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4325		chr10	TogoVar
ANKRD28_chr3_15662236_15802979	15674196	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0052 a0003c0013t0052	a0003c0013t0052g0293 a0003c0013t0052g0293	1	340	0.0029	31	c.296 others(50): Show c.2965+1701_2965+1702insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	27/27			chr3	TogoVar
ANKRD33B_chr5_10559070_10662816	10639133	G G	GGGTGACG others(24): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0022 a0001c0034t0001g0022	1	324	0.0031	31	c.637 others(46): Show c.637+972_637+973insTGGGGTTGCGCGGCGATGTTAGGCGGTGAC G	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639257	C C	CGGTGACG others(24): Show CGGTGACGCGGAGTTGCGCGGCGATGTTAGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp2 HG03453.hp1 HG01261.hp1 HG02293.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0052 a0001c0001t0001 a0001c0001t0009 a0001c0001t0052	a0001c0001t0001g0239 a0001c0001t0009g0316 a0001c0001t0052g0025 a0001c0001t0001g0239 a0001c0001t0009g0316 a0001c0001t0052g0025	3	324	0.0093	31	c.637 others(48): Show c.637+1096_637+1097insCGGAGTTGCGCGGCGATGTTAGCGGGTG ACG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639265	T T	TGGAGTTG others(24): Show TGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0008 a0001c0026t0008	a0001c0026t0008g0008 a0001c0026t0008g0008	1	324	0.0031	31	c.637 others(48): Show c.637+1128_637+1158dupCGGAGTTGCGCGGCGATGTTAGCGGGTG ACG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639474	G G	GGGTGACG others(24): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	324	0.0031	31	c.637 others(48): Show c.637+1313_637+1314insTGGGGTTGCGCGGCGATGTTAGGCGGTG ACG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639547	A A	AGTTGCGC others(24): Show AGTTGCGCGGCGATGTTAGCGGGTGACGCGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0008 a0001c0026t0008	a0001c0026t0008g0008 a0001c0026t0008g0008	1	324	0.0031	31	c.637 others(48): Show c.637+1397_637+1398insCGGGTGACGCGGGGTTGCGCGGCGATGT TAG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639730	C C	CGGCGTTG others(24): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0008 a0001c0026t0008	a0001c0026t0008g0008 a0001c0026t0008g0008	1	324	0.0031	31	c.637 others(48): Show c.637+1564_637+1565insCGTTGCGCGGCGATGTTAGGCGGTGACG TGG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639877	C C	CGGTGACG others(24): Show CGGTGACGCGGAGTTGCGCGGCGATGTTAGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0019 a0002c0010t0019	a0002c0010t0019g0307 a0002c0010t0019g0307	1	324	0.0031	31	c.637 others(48): Show c.637+1716_637+1717insCGGAGTTGCGCGGCGATGTTAGCGGGTG ACG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD45_chr1_173603336_173674851	173608884	G G	GGAGGGGA others(24): Show GGAGGGGAGGGGAGAGGAAGGGAGGGGGAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01081.hp1 others(49): Show HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0013	a0002c0002t0002g0024 a0002c0002t0002g0039 a0002c0002t0002g0040 others(47): Show a0002c0002t0002g0024 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0003g0003 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0012g0071 a0002c0002t0013g0059	52	342	0.1521	31	c.12 others(42): Show c.1260_*1261insTCTTCCCCCTCCCTTCCTCTCCCCTCCCCTC	ANKRD45	ENSG00000183831.7	transcript	ENST00000333279.3	protein_coding	6/6	1260		chr1	TogoVar
ANKRD55_chr5_56094680_56238330	56112504	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0010 a0001c0014t0010	a0001c0014t0010g0047 a0001c0014t0010g0047	1	308	0.0033	31	c.966 others(46): Show c.966-723_966-722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112510	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03239.hp1 HG03239.hp2 others(1): Show HG02683.hp2 HG03239.hp1 HG03239.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0001g0184 a0001c0001t0001g0208	4	308	0.0130	31	c.966 others(46): Show c.966-729_966-728insGTTTTTTTTTTTGTTTTTTTTTTTTTTTTT T	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112510	A A	AAAAAAAA others(24): Show AAAAAAAAAAAACAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	308	0.0033	31	c.966 others(46): Show c.966-729_966-728insGTTTTTTTTTTTGTTTTTTGTTTTTTTTTT T	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112510	A A	AAAAAAAC others(24): Show AAAAAAACAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp2 HG01099.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0003t0001g0056 a0001c0001t0001g0018 a0001c0003t0001g0056	2	308	0.0065	31	c.966 others(46): Show c.966-729_966-728insGTTTTTTTTTTTGTTTTTTTTTTTGTTTTT T	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112511	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01106.hp2 others(7): Show HG00099.hp1 HG00597.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG02615.hp1 HG03225.hp1 HG03688.hp1 NA18956.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0016t0001	a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0003t0001g0117 a0001c0016t0001g0005	10	308	0.0325	31	c.966 others(46): Show c.966-730_966-729insGTTTTTTTTTTTGTTTTTTTTTTTTTTTTT T	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56135356	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18906.hp2 HG02897.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0215 a0001c0001t0001g0100 a0001c0001t0001g0215	2	308	0.0065	31	c.613 others(48): Show c.613-8251_613-8250insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	7/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166087	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	308	0.0033	31	c.422 others(48): Show c.422+4576_422+4606dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166091	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	308	0.0033	31	c.422 others(48): Show c.422+4572_422+4602dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166095	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	308	0.0033	31	c.422 others(48): Show c.422+4568_422+4598dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD6_chr6_89428152_89638821	89528313	C C	CATTTCAA others(24): Show CATTTCAACAGTGTTCACAGCATCTTCACCAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0084 a0008c0016t0001g0084	1	270	0.0037	31	c.-14 others(52): Show c.-143-38520_-143-38490dupATTTCAACAGTGTTCACAGCATCT TCACCAG	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO10_chr3_43360848_43627011	43589232	C C	CAGATGTC others(24): Show CAGATGTCATTAATATAATGACATCTTAATAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG03130.hp1 others(1): Show HG01099.hp1 HG01109.hp1 HG03130.hp1 HG03486.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0004c0004 a0012c0009 a0002c0002 a0004c0004 a0012c0009	a0002c0002t0001 a0004c0004t0015 a0012c0009t0004 a0002c0002t0001 a0004c0004t0015 a0012c0009t0004	a0002c0002t0001g0048 a0002c0002t0001g0049 a0004c0004t0015g0220 others(1): Show a0002c0002t0001g0048 a0002c0002t0001g0049 a0004c0004t0015g0220 a0012c0009t0004g0040	4	224	0.0179	31	c.473 others(48): Show c.473-8791_473-8761dupTTATTAAGATGTCATTATATTAATGACA TCT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	4/12			chr3	TogoVar
ANO1_chr11_70073317_70194530	70095320	G G	GAAGGAAG others(24): Show GAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0144 a0002c0005t0003g0144	1	302	0.0033	31	c.441 others(48): Show c.441+7236_441+7237insAAGGAAGGAAGGAAGGAAGGAAAGAAAG AAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25			chr11	TogoVar
ANO4_chr12_100789776_101133629	101075714	C C	CATAAAGA others(24): Show CATAAAGATACATATATCTTTATATAAAACAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp1 HG00639.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0148 a0001c0001t0012g0061 a0001c0001t0001g0148 a0001c0001t0012g0061	2	236	0.0085	31	c.131 others(50): Show c.1313-3478_1313-3477insTAAAGATACATATATCTTTATATAAA ACAAA	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO7_chr2_241183677_241230976	241210539	T T	TGTATCCC others(24): Show TGTATCCCTGGCCCACGTCCTGACACGATGGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02055.hp1	a0027 a0027	a0027c0065 a0027c0065	a0027c0065t0006 a0027c0065t0006	a0027c0065t0006g0029 a0027c0065t0006g0029	1	396	0.0025	31	c.153 others(42): Show c.1533_1561+2dupATCCCTGGCCCACGTCCTGACACGATGGGGT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR2_chr4_79896146_80078229	79972920	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0205 a0002c0002t0025g0205	1	268	0.0037	31	c.142 others(50): Show c.1428+4700_1428+4701insTTTTTTTTTTCTTTTTTTTTTTTTTT TTTTT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar

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Search Results (Total: 5228 hits)