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
DENND4C_chr9_19225693_19379281	19238642	C C	CCCCCCCT others(10): Show CCCCCCCTCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	292	0.0034	17	c.-18 others(34): Show c.-18+7812_-18+7813insCCCTCTCCTCCCCTCCC	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND5A_chr11_9133825_9270350	9164194	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0279 a0001c0003t0001g0027 a0001c0001t0005g0279 a0001c0003t0001g0027	2	284	0.0070	17	c.228 others(36): Show c.2283+1625_2283+1641dupAAAAAAAAAAAAAAAAA	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	11/22			chr11	TogoVar
DENND5A_chr11_9133825_9270350	9231715	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0005 a0002c0002t0006g0005	1	284	0.0035	17	c.110 others(36): Show c.110-24100_110-24084dupTTTTTTTTTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	1/22			chr11	TogoVar
DENND5B_chr12_31377226_31596136	31545950	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01257.hp2 others(3): Show HG01081.hp2 HG01109.hp2 HG01257.hp2 HG02559.hp2 HG03453.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0058 a0001c0009t0050 a0001c0001t0004 a0001c0001t0058 a0001c0009t0050	a0001c0001t0004g0269 a0001c0001t0004g0274 a0001c0001t0004g0280 others(3): Show a0001c0001t0004g0269 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0285 a0001c0001t0058g0305 a0001c0009t0050g0206	6	308	0.0195	17	c.127 others(36): Show c.127+44739_127+44755dupTTTTTTTTTTTTTTTTT	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DENND6A_chr3_57620454_57698077	57690428	T T	TGGGAGGC others(10): Show TGGGAGGCGGAGCTTGCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0029 a0001c0001t0013g0029	1	332	0.0030	17	c.237 others(34): Show c.237+2337_237+2353dupTGCAAGCTCCGCCTCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	1/19			chr3	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(2): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	5	364	0.0137	17	c.-23 others(28): Show c.-2333_-2332insAAAAAAAAAAAAAAAAA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding		2196		chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60699443	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01361.hp2 others(3): Show HG00642.hp2 HG01167.hp2 HG01361.hp2 HG02615.hp1 HG03710.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175	6	292	0.0206	17	c.48+ others(30): Show c.48+586_48+602dupTTTTTTTTTTTTTTTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DEPDC7_chr11_33010878_33038582	33038139	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01069.hp2 others(25): Show HG00438.hp1 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01261.hp1 HG01981.hp1 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02559.hp1 HG02717.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp1 NA18977.hp1 NA18995.hp2 NA19006.hp1 NA19011.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0003c0004 a0004c0006 others(2): Show a0001c0001 a0003c0004 a0004c0006 a0005c0012 a0006c0013	a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 others(3): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 a0004c0006t0001 a0005c0012t0001 a0006c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0003c0004t0001g0043 a0003c0004t0003g0094 a0004c0006t0001g0016 a0005c0012t0001g0002 a0006c0013t0001g0137	28	422	0.0664	17	c.46 others(28): Show c.4684_*4685insTTTTTTTTTTTTTTTTT	DEPDC7	ENSG00000121690.11	transcript	ENST00000241051.8	protein_coding		4558		chr11	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02630.hp2 HG03017.hp1 HG00099.hp1 HG02630.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0006 a0002c0001t0007 a0001c0002t0001 a0002c0001t0006 a0002c0001t0007	a0001c0002t0001g0074 a0002c0001t0006g0066 a0002c0001t0007g0039 a0001c0002t0001g0074 a0002c0001t0006g0066 a0002c0001t0007g0039	3	198	0.0152	17	c.122 others(36): Show c.122+26420_122+26436dupTTTTTTTTTTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI2_chr1_244648126_244714033	244699578	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	360	0.0028	17	c.352 others(34): Show c.352-5956_352-5940dupAAAAAAAAAAAAAAAAA	DESI2	ENSG00000121644.19	transcript	ENST00000302550.16	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
DET1_chr15_88507480_88551681	88522512	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01433.hp1 others(25): Show HG00140.hp2 HG00642.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02300.hp2 HG02486.hp2 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18906.hp2 NA18942.hp1 NA18966.hp2 NA18987.hp1 NA19030.hp1 NA19030.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0359 a0001c0001t0002g0013 a0001c0001t0002g0076 others(24): Show a0001c0001t0001g0359 a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0002t0002g0171	28	402	0.0697	17	c.127 others(36): Show c.1271+5086_1271+5087insAAAAAAAAAAAAAAAAA	DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	3/4			chr15	TogoVar
DFFB_chr1_3852476_3890429	3872614	G G	GGGCCCTG others(10): Show GGGCCCTGTCCCTGCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA19001.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19066.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0006 a0002c0008 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0023 a0001c0002t0036 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0012 a0001c0003t0022 a0001c0003t0029 a0001c0003t0035 a0001c0005t0001 a0001c0005t0006 a0002c0004t0001 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0009 a0002c0004t0011 a0002c0004t0014 a0002c0004t0024 a0002c0006t0002 a0002c0006t0020 a0002c0008t0007 a0004c0009t0006	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0004g0261 others(123): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0004g0261 a0001c0001t0004g0270 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0007g0262 a0001c0001t0007g0285 a0001c0001t0009g0013 a0001c0001t0009g0256 a0001c0001t0009g0268 a0001c0001t0009g0269 a0001c0001t0009g0279 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0010g0024 a0001c0001t0010g0056 a0001c0001t0010g0062 a0001c0001t0010g0072 a0001c0001t0010g0113 a0001c0001t0010g0154 a0001c0001t0010g0214 a0001c0001t0016g0284 a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0001t0016g0314 a0001c0001t0018g0047 a0001c0001t0018g0083 a0001c0001t0031g0309 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0171 a0001c0002t0008g0304 a0001c0002t0012g0283 a0001c0002t0012g0313 a0001c0002t0012g0317 a0001c0002t0023g0187 a0001c0002t0036g0291 a0001c0003t0002g0063 a0001c0003t0002g0141 a0001c0003t0003g0009 a0001c0003t0003g0015 a0001c0003t0003g0022 a0001c0003t0003g0025 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0058 a0001c0003t0003g0065 a0001c0003t0003g0074 a0001c0003t0003g0079 a0001c0003t0003g0086 a0001c0003t0003g0088 a0001c0003t0003g0090 a0001c0003t0003g0093 a0001c0003t0003g0106 a0001c0003t0003g0140 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0148 a0001c0003t0003g0156 a0001c0003t0003g0158 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0186 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0008g0244 a0001c0003t0008g0249 a0001c0003t0008g0252 a0001c0003t0008g0253 a0001c0003t0008g0267 a0001c0003t0008g0281 a0001c0003t0008g0315 a0001c0003t0012g0307 a0001c0003t0022g0109 a0001c0003t0022g0157 a0001c0003t0029g0022 a0001c0003t0035g0282 a0001c0005t0001g0043 a0001c0005t0001g0068 a0001c0005t0001g0071 a0001c0005t0001g0087 a0001c0005t0001g0110 a0001c0005t0006g0098 a0001c0005t0006g0114 a0001c0005t0006g0139 a0002c0004t0001g0108 a0002c0004t0004g0006 a0002c0004t0004g0038 a0002c0004t0004g0243 a0002c0004t0004g0247 a0002c0004t0004g0277 a0002c0004t0004g0280 a0002c0004t0004g0303 a0002c0004t0004g0316 a0002c0004t0006g0100 a0002c0004t0006g0135 a0002c0004t0006g0136 a0002c0004t0006g0204 a0002c0004t0006g0208 a0002c0004t0006g0211 a0002c0004t0007g0251 a0002c0004t0009g0246 a0002c0004t0011g0137 a0002c0004t0011g0205 a0002c0004t0011g0207 a0002c0004t0011g0210 a0002c0004t0011g0212 a0002c0004t0011g0238 a0002c0004t0014g0039 a0002c0004t0014g0245 a0002c0004t0014g0254 a0002c0004t0014g0289 a0002c0004t0024g0209 a0002c0006t0002g0206 a0002c0006t0020g0177 a0002c0008t0007g0263 a0002c0008t0007g0271 a0004c0009t0006g0019	139	404	0.3441	17	c.782 others(30): Show c.782+58_782+59insCGGCCCTGTCCCTGCCG	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3872630	G G	GCGGCCCT others(10): Show GCGGCCCTGTCCCTGCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG01884.hp2 others(8): Show HG01168.hp1 HG01192.hp2 HG01884.hp2 HG02145.hp1 HG02572.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0002t0012	a0001c0001t0006g0036 a0001c0001t0007g0272 a0001c0001t0007g0273 others(7): Show a0001c0001t0006g0036 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0019g0046 a0001c0001t0019g0076 a0001c0002t0012g0301 a0001c0002t0012g0302	11	404	0.0272	17	c.782 others(30): Show c.782+58_782+59insCGGCCCTGTCCCTGCCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	6/6			chr1	TogoVar
DGAT2L6_chrX_70172483_70210704	70196491	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	274	0.0037	17	c.86- others(32): Show c.86-2769_86-2768insAAAAAGAAAAAAAAAAA	DGAT2L6	ENSG00000184210.6	transcript	ENST00000333026.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DGAT2_chr11_75763778_75806534	75779881	C C	CCCAGTCT others(10): Show CCCAGTCTAACTTGGGCA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	324	0.0031	17	c.122 others(34): Show c.122-4736_122-4720dupCCAGTCTAACTTGGGCA	DGAT2	ENSG00000062282.15	transcript	ENST00000228027.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGCR2_chr22_19031286_19127412	19084678	C C	CCCCCGCC others(10): Show CCCCCGCCCGGCCAGCCG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0116 a0001c0001t0030g0116	1	344	0.0029	17	c.202 others(34): Show c.202+4689_202+4690insCGGCTGGCCGGGCGGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGKB_chr7_14140049_14907751	14243145	A A	AGGAAAAG others(10): Show AGGAAAAGAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	148	0.0068	17	c.212 others(38): Show c.2123-65011_2123-64995dupATTTTTTTTTCTTTTCC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14265318	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp1 NA21309.hp1 HG02976.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0017 a0001c0003 a0001c0008 a0001c0017	a0001c0003t0003 a0001c0008t0003 a0001c0017t0024 a0001c0003t0003 a0001c0008t0003 a0001c0017t0024	a0001c0003t0003g0056 a0001c0008t0003g0078 a0001c0017t0024g0146 a0001c0003t0003g0056 a0001c0008t0003g0078 a0001c0017t0024g0146	3	148	0.0203	17	c.212 others(38): Show c.2122+73180_2122+73196dupAAAAAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0147 a0001c0001t0041g0147	1	148	0.0068	17	c.183 others(38): Show c.1836-47605_1836-47604insAAAAAAAAAAAACAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14723025	A A	ATTTATTT others(10): Show ATTTATTTATTTATTCAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02818.hp1 others(2): Show HG02280.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0003 a0001c0006t0019 a0002c0005t0011 a0001c0002t0003 a0001c0006t0019 a0002c0005t0011	a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 others(2): Show a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0006t0019g0144 a0002c0005t0011g0079	5	148	0.0338	17	c.323 others(34): Show c.323-4341_323-4340insATGAATAAATAAATAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14778401	G G	GGGGGGGG others(10): Show GGGGGGGGGATGCTGTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0035 a0001c0004t0001g0035	1	148	0.0068	17	c.71- others(34): Show c.71-20671_71-20670insAAACAGCATCCCCCCCC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14809172	A A	ATCCCGAA others(10): Show ATCCCGAAATTTAAGAAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	148	0.0068	17	c.70+ others(34): Show c.70+32005_70+32021dupATTCTTAAATTTCGGGA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14852487	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 HG02258.hp2 others(5): Show HG00597.hp2 HG02056.hp2 HG02258.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0034 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0034 a0001c0003t0001 a0001c0004t0002 a0001c0004t0027 a0002c0005t0006 a0002c0005t0011	a0001c0002t0002g0107 a0001c0002t0003g0135 a0001c0002t0034g0014 others(5): Show a0001c0002t0002g0107 a0001c0002t0003g0135 a0001c0002t0034g0014 a0001c0003t0001g0054 a0001c0004t0002g0115 a0001c0004t0027g0059 a0002c0005t0006g0139 a0002c0005t0011g0062	8	148	0.0541	17	c.-18 others(38): Show c.-187-11038_-187-11037insTTTTTTTTTTTTTTTTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463262	C C	CCTCCTCA others(10): Show CCTCCTCACTGCACGCGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0128 a0001c0004t0013g0128	1	336	0.0030	17	c.318 others(34): Show c.3186+543_3186+559dupGTCTCCTCACTGCACGC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463375	A A	ACATCTCC others(10): Show ACATCTCCTCACTCCACG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0133 a0001c0003t0035g0133	1	336	0.0030	17	c.318 others(34): Show c.3186+656_3186+657insGCATCTCCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463392	A A	ACATCTCC others(10): Show ACATCTCCTCACTCCACG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01361.hp1 others(11): Show HG00323.hp1 HG00609.hp1 HG01361.hp1 HG01952.hp2 HG02300.hp1 HG03098.hp2 HG03490.hp1 HG03540.hp2 HG04184.hp2 NA18969.hp1 NA19009.hp2 NA19012.hp1 NA19058.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 others(2): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 others(11): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0165 a0001c0001t0018g0055 a0001c0001t0026g0094 a0001c0002t0003g0033 a0001c0002t0004g0078	14	336	0.0417	17	c.318 others(34): Show c.3186+712_3187-701dupCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463426	G G	GCATCTCC others(10): Show GCATCTCCTCACTCCACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0128 a0001c0004t0013g0128	1	336	0.0030	17	c.318 others(34): Show c.3186+707_3186+708insACATCTCCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(10): Show GCACGCATCTCCTCACTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	336	0.0030	17	c.318 others(34): Show c.3187-650_3187-649insCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(10): Show GTCCTCACTCCACGCATC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03710.hp2 NA18995.hp2 HG02132.hp2 HG03710.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 a0001c0001t0001 a0001c0001t0003 a0001c0003t0007	a0001c0001t0001g0262 a0001c0001t0003g0222 a0001c0003t0007g0080 a0001c0001t0001g0262 a0001c0001t0003g0222 a0001c0003t0007g0080	3	336	0.0089	17	c.318 others(34): Show c.3187-530_3187-514dupCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(10): Show GTCCTCACTGCACGCATC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	336	0.0030	17	c.318 others(34): Show c.3187-641_3187-640insGCACGCATCTCCTCACT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463634	C C	CTCCTCAC others(10): Show CTCCTCACTCCACGCATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18948.hp1 NA18963.hp2 others(3): Show HG02071.hp2 NA18948.hp1 NA18963.hp2 NA18971.hp2 NA18987.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0200 a0001c0001t0003g0217 a0001c0001t0003g0221 others(3): Show a0001c0001t0003g0200 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0029g0225	6	336	0.0179	17	c.318 others(34): Show c.3187-521_3187-505dupCCACGCATGTCCTCACT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463660	G G	GCACGCAT others(10): Show GCACGCATCTCCTCACTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0134 a0001c0001t0024g0134	1	336	0.0030	17	c.318 others(34): Show c.3187-495_3187-479dupTCCTCACTCCACGCATC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463669	T T	TCCTCACT others(10): Show TCCTCACTCCACGCATCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19075.hp1 HG00621.hp2 NA19075.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0019 a0001c0003t0007 a0001c0003t0019	a0001c0003t0007g0084 a0001c0003t0019g0086 a0001c0003t0007g0084 a0001c0003t0019g0086	2	336	0.0060	17	c.318 others(34): Show c.3187-466_3187-450dupGCATCACCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463681	G G	GCATCACC others(10): Show GCATCACCTCACTCCACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0089 a0001c0011t0002g0089	1	336	0.0030	17	c.318 others(34): Show c.3187-467_3187-466insACATCACCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463681	G G	GCATCTCC others(10): Show GCATCTCCTCACTCCACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0040 a0001c0014t0040	a0001c0014t0040g0004 a0001c0014t0040g0004	1	336	0.0030	17	c.318 others(34): Show c.3187-479_3187-478insTCCTCACTCCACACATC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463698	G G	GCATCACC others(10): Show GCATCACCTCACTCCACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0156 a0001c0004t0023g0157 a0001c0004t0023g0156 a0001c0004t0023g0157	2	336	0.0060	17	c.318 others(34): Show c.3187-465_3187-449dupCATCACCTCACTCCACA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKG_chr3_186142201_186367234	186250557	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0226 a0002c0001t0003g0226	1	234	0.0043	17	c.176 others(36): Show c.1761+1201_1761+1202insAAAAAAAAAAAAAAAAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	19/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42135507	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00639.hp1 others(10): Show HG00140.hp1 HG00438.hp1 HG00639.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG02135.hp1 HG02738.hp2 HG03041.hp2 NA18998.hp1 NA19011.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0002 a0001c0001t0021 a0001c0001t0029 others(4): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0001t0068 a0001c0001t0069 a0001c0024t0029	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0107 others(10): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0233 a0001c0001t0021g0296 a0001c0001t0029g0034 a0001c0001t0034g0055 a0001c0001t0068g0314 a0001c0001t0069g0042 a0001c0024t0029g0033	13	316	0.0411	17	c.384 others(34): Show c.384+5876_384+5877insAAAAAAAAAAAAAAAGA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0199 a0001c0001t0083g0199	1	316	0.0032	17	c.623 others(29): Show c.623-19_623-3dupTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA21309.hp1 HG02109.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0010 a0001c0010t0016 a0001c0004t0010 a0001c0010t0016	a0001c0004t0010g0087 a0001c0010t0016g0052 a0001c0004t0010g0087 a0001c0010t0016g0052	2	94	0.0213	17	c.993 others(34): Show c.993+1672_993+1673insAAAAAAAAAAATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137691798	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0009 a0001c0002t0021g0009	1	94	0.0106	17	c.402 others(34): Show c.402-1813_402-1797dupAAAAAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137691809	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG01243.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0011 a0001c0008t0022 a0001c0004t0011 a0001c0008t0022	a0001c0004t0011g0085 a0001c0008t0022g0026 a0001c0004t0011g0085 a0001c0008t0022g0026	2	94	0.0213	17	c.402 others(34): Show c.402-1808_402-1807insCAAAAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137846134	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp1 HG02922.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0013 a0001c0002t0003 a0001c0006t0013	a0001c0002t0003g0092 a0001c0006t0013g0012 a0001c0002t0003g0092 a0001c0006t0013g0012	2	94	0.0213	17	c.401 others(32): Show c.401+327_401+328insGAGAGAGAGAGAGAGAG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DHCR24_chr1_54844627_54892195	54866752	C C	CCCACCCT others(10): Show CCCACCCTGCTGGTAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01891.hp2 others(34): Show HG00558.hp1 HG00621.hp2 HG01891.hp2 HG02056.hp2 HG02523.hp1 HG03540.hp1 HG03834.hp1 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19057.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19080.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0060 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0003g0148 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0007g0065 a0001c0001t0007g0069 a0001c0001t0007g0072 a0001c0001t0007g0076 a0001c0001t0014g0082 a0001c0001t0020g0063 a0001c0001t0022g0147	37	386	0.0959	17	c.877 others(34): Show c.877-1323_877-1307dupCCTTACCAGCAGGGTGG	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	5/8			chr1	TogoVar
DHODH_chr16_72003744_72032659	72017770	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01891.hp2 HG02895.hp2 others(2): Show HG00733.hp1 HG01891.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0023 a0002c0002t0057 a0002c0002t0003 a0002c0002t0023 a0002c0002t0057	a0002c0002t0003g0076 a0002c0002t0023g0055 a0002c0002t0023g0056 others(2): Show a0002c0002t0003g0076 a0002c0002t0023g0055 a0002c0002t0023g0056 a0002c0002t0023g0058 a0002c0002t0057g0057	5	414	0.0121	17	c.517 others(32): Show c.517+666_517+682dupTTTTTTTTTTTTTTTTT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72028421	G G	GAATGGCA others(10): Show GAATGGCAGTCTCAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0150 a0001c0001t0011g0150	1	414	0.0024	17	c.42 others(28): Show c.4222_*4223insAATGGCAGTCTCAAGGA	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding		763		chr16	TogoVar
DHRS12_chr13_51762993_51809163	51767781	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	420	0.0024	17	c.40 others(26): Show c.405_*406insCCCCCCCCCCCCCCCCC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding		211		chr13	TogoVar
DHRS4L2_chr14_23983929_24011403	23999367	A A	AAAAAAAA others(10): Show AAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0001 a0004c0003t0002g0001	1	32	0.0313	17	c.409 others(34): Show c.409-1489_409-1488insAAAACAAAACAAAAAAA	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS7B_chr17_21121964_21196420	21138075	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0374 a0001c0003t0001g0374	1	382	0.0026	17	c.20+ others(34): Show c.20+11085_20+11086insAAAAAAATATATATATA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	382	0.0026	17	c.21- others(32): Show c.21-7972_21-7971insTTTTTTTTTTTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar

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