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
C19orf67_chr19_14076624_14090783	14080097	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01975.hp1 others(3): Show HG01257.hp1 HG01258.hp1 HG01975.hp1 HG01978.hp2 HG03017.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0002 a0001c0001t0001g0022	6	394	0.0152	18	c.17 others(29): Show c.1736_*1737insTATTATTATTATTATTAT	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		1526		chr19	TogoVar
C19orf85_chr19_55458001_55469751	55466676	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp1 others(3): Show HG00323.hp1 HG00639.hp2 HG00642.hp1 HG01433.hp2 HG01934.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	6	402	0.0149	18	c.-21 others(29): Show c.-2123_-2122insACACACACACACACACAC	C19orf85	ENSG00000283567.2	transcript	ENST00000635964.2	protein_coding		1926		chr19	TogoVar
C1GALT1C1L_chr2_43670151_43681429	43678759	G G	GAGGTGGA others(11): Show GAGGTGGAGGTGGAGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG02145.hp2 others(1): Show HG01074.hp1 HG01099.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	4	396	0.0101	18	c.-24 others(29): Show c.-2438_-2437insGCACCTCCACCTCCACCT	C1GALT1C1L	ENSG00000223658.8	transcript	ENST00000475092.4	protein_coding		2331		chr2	TogoVar
C1QL3_chr10_16508734_16526879	16517981	C C	CTCTTAGA others(11): Show CTCTTAGAGGGAACTGCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	460	0.0022	18	c.588 others(35): Show c.588+2479_588+2496dupATGCAGTTCCCTCTAAGA	C1QL3	ENSG00000165985.11	transcript	ENST00000298943.4	protein_coding	1/1			chr10	TogoVar
C1QL3_chr10_16508734_16526879	16519140	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01099.hp1 others(30): Show HG00099.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp1 HG01255.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02129.hp1 HG02300.hp1 HG02559.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18941.hp1 NA18948.hp1 NA18948.hp2 NA18973.hp2 NA18986.hp1 NA18999.hp2 NA19007.hp1 NA19010.hp2 NA19062.hp2 NA19072.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0066 others(3): Show a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0004g0029 a0001c0001t0007g0032	33	460	0.0717	18	c.588 others(35): Show c.588+1320_588+1337dupAAAAAAAAAAAAAAAAAA	C1QL3	ENSG00000165985.11	transcript	ENST00000298943.4	protein_coding	1/1			chr10	TogoVar
C1QTNF1_chr17_79019169_79054788	79023704	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0062 a0001c0001t0010g0062	1	392	0.0026	18	c.-80 others(27): Show c.-805_-804insCGCGCACACACACACACA	C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding		464		chr17	TogoVar
C1QTNF1_chr17_79019169_79054788	79023704	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA18906.hp2 NA18964.hp1 others(5): Show HG00673.hp1 NA18906.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003	a0001c0001t0010g0067 a0001c0002t0002g0015 a0001c0002t0003g0007 others(3): Show a0001c0001t0010g0067 a0001c0002t0002g0015 a0001c0002t0003g0007 a0001c0002t0003g0203 a0001c0002t0003g0233 a0001c0002t0003g0234	8	392	0.0204	18	c.-80 others(27): Show c.-805_-804insCGCGCGCACACACACACA	C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding		464		chr17	TogoVar
C1QTNF1_chr17_79019169_79054788	79023704	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA19000.hp2 HG02809.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0235 a0001c0002t0003g0202 a0001c0002t0003g0235	2	392	0.0051	18	c.-80 others(27): Show c.-805_-804insCGCGCGCGCACACACACA	C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding		464		chr17	TogoVar
C1QTNF1_chr17_79019169_79054788	79036167	C C	CATGTGGC others(11): Show CATGTGGCTTTTTATTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	392	0.0026	18	c.-14 others(35): Show c.-14-7783_-14-7766dupGGCTTTTTATTTTTATGT	C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF2_chr5_160342754_160375626	160354598	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18983.hp2 HG03453.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0077 a0001c0001t0007g0217 a0001c0001t0002g0077 a0001c0001t0007g0217	2	452	0.0044	18	c.244 others(33): Show c.244+152_244+169dupTATATATATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF2_chr5_160342754_160375626	160354631	T T	TATATATA others(11): Show TATATATAGAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	452	0.0022	18	c.244 others(33): Show c.244+136_244+137insCTATCTATCTCTATATAT	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03516.hp2 others(2): Show HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03831.hp1 NA18949.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0010	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0010t0002	a0001c0001t0001g0007 a0002c0002t0001g0033 a0003c0003t0001g0073 others(2): Show a0001c0001t0001g0007 a0002c0002t0001g0033 a0003c0003t0001g0073 a0003c0003t0001g0079 a0005c0010t0002g0039	5	466	0.0107	18	c.-35 others(27): Show c.-356_-355insTATATATATATATATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1S_chr12_7055718_7076032	7064030	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp2 NA19011.hp2 others(2): Show HG03831.hp1 HG04115.hp2 NA19011.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	5	370	0.0135	18	c.392 others(33): Show c.392-234_392-233insACACACACACACACACAC	C1S	ENSG00000182326.17	transcript	ENST00000360817.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1orf100_chr1_244347635_244394663	244394246	T T	TTTTAAAC others(11): Show TTTTAAACTTTTTTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02451.hp2 NA18954.hp1 others(4): Show HG02083.hp1 HG02451.hp2 NA18954.hp1 NA18968.hp1 NA18981.hp1 NA19009.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0261 others(4): Show a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0261 a0001c0001t0001g0293 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0437	7	452	0.0155	18	c.51 others(29): Show c.5177_*5178insTTTAAACTTTTTTCTGCC	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding		4584		chr1	TogoVar
C1orf105_chr1_172415685_172473829	172447864	G G	GAAATGAA others(11): Show GAAATGAACCACAGTGCCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	320	0.0031	18	c.108 others(33): Show c.108-575_108-558dupAATGAACCACAGTGCCAA	C1orf105	ENSG00000180999.11	transcript	ENST00000367727.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf127_chr1_10941475_10987076	10986123	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02615.hp1 others(3): Show HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG03471.hp2 NA19240.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0003 a0003c0006 a0007c0013 a0001c0003 a0003c0006 a0007c0013	a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0003c0006t0004 a0007c0013t0001	a0001c0003t0001g0371 a0001c0003t0006g0375 a0001c0003t0008g0372 others(3): Show a0001c0003t0001g0371 a0001c0003t0006g0375 a0001c0003t0008g0372 a0003c0006t0004g0113 a0003c0006t0004g0367 a0007c0013t0001g0373	6	392	0.0153	18	c.-40 others(29): Show c.-4087_-4086insTGTGTGTGTGTGTGTGTG	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding		4048		chr1	TogoVar
C1orf141_chr1_67087165_67139970	67101449	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	300	0.0033	18	c.347 others(35): Show c.347-5146_347-5129dupACACACACACACACACAC	C1orf141	ENSG00000203963.12	transcript	ENST00000684719.1	protein_coding	5/7			chr1	TogoVar
C1orf141_chr1_67087165_67139970	67135906	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0251	1	300	0.0033	18	c.-10 others(29): Show c.-1098_-1081dupTTTTTTTTTTTTTTTTTT	C1orf141	ENSG00000203963.12	transcript	ENST00000684719.1	protein_coding		937		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11771049	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0025 a0025	a0025c0028 a0025c0028	a0025c0028t0001 a0025c0028t0001	a0025c0028t0001g0274 a0025c0028t0001g0274	1	350	0.0029	18	c.169 others(35): Show c.1698-474_1698-473insGTGTGTGTGTATATATAT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf167_chr1_11757193_11794585	11771069	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0033 a0033	a0033c0033 a0033c0033	a0033c0033t0001 a0033c0033t0001	a0033c0033t0001g0294 a0033c0033t0001g0294	1	350	0.0029	18	c.169 others(35): Show c.1698-454_1698-453insATATATATATTTTTTTTT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf167_chr1_11757193_11794585	11772894	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp2 HG01891.hp2 others(5): Show HG00597.hp1 HG01109.hp2 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02717.hp1 HG03471.hp1 NA19030.hp2	a0003 a0007 a0012 others(1): Show a0003 a0007 a0012 a0025	a0003c0003 a0007c0010 a0007c0050 others(2): Show a0003c0003 a0007c0010 a0007c0050 a0012c0013 a0025c0028	a0003c0003t0001 a0007c0010t0001 a0007c0050t0001 others(4): Show a0003c0003t0001 a0007c0010t0001 a0007c0050t0001 a0012c0013t0001 a0012c0013t0002 a0012c0013t0004 a0025c0028t0001	a0003c0003t0001g0280 a0007c0010t0001g0032 a0007c0050t0001g0120 others(5): Show a0003c0003t0001g0280 a0007c0010t0001g0032 a0007c0050t0001g0120 a0012c0013t0001g0121 a0012c0013t0002g0027 a0012c0013t0002g0148 a0012c0013t0004g0118 a0025c0028t0001g0251	8	350	0.0229	18	c.198 others(35): Show c.1988+639_1988+656dupATTATTATTATTATTATT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf167_chr1_11757193_11794585	11790925	G G	GCACACAT others(11): Show GCACACATGCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03453.hp2 NA19030.hp2 HG02723.hp2 HG03453.hp2 NA19030.hp2	a0007 a0040 a0007 a0040	a0007c0050 a0007c0057 a0040c0043 a0007c0050 a0007c0057 a0040c0043	a0007c0050t0001 a0007c0057t0003 a0040c0043t0002 a0007c0050t0001 a0007c0057t0003 a0040c0043t0002	a0007c0050t0001g0120 a0007c0057t0003g0016 a0040c0043t0002g0018 a0007c0050t0001g0120 a0007c0057t0003g0016 a0040c0043t0002g0018	3	350	0.0086	18	c.14 others(29): Show c.1479_*1480insCACACATGCACACACACA	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding		1341		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184386789	C C	CCACACAC others(11): Show CCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03927.hp1 HG04204.hp1 others(4): Show HG00408.hp2 HG03927.hp1 HG04204.hp1 NA18948.hp1 NA18967.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0034	a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0002g0134 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0013g0223 a0001c0001t0034g0097	7	232	0.0302	18	c.-70 others(27): Show c.-704_-703insCACACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		239		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184505340	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0206 a0001c0001t0052g0206	1	232	0.0043	18	c.95- others(33): Show c.95-2247_95-2246insTATATATATATATATACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184630308	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	232	0.0043	18	c.10 others(31): Show c.10752_*10753insCTCACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		1290		chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203172	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	374	0.0027	18	c.42 others(29): Show c.4263_*4280dupATATATATATATATATAT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3547		chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TTATATAT others(11): Show TTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0078 a0001c0001t0050g0078	1	418	0.0024	18	c.37 others(27): Show c.375_*392dupTATATATATATATATATA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	393	INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf94_chr1_34171907_34224131	34207262	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0012	a0005c0007t0012g0159 a0005c0007t0012g0159	1	356	0.0028	18	c.144 others(35): Show c.1447-870_1447-853dupGTGTGTGTGTGTGTGTGT	C1orf94	ENSG00000142698.15	transcript	ENST00000488417.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf141_chr20_2809987_2820830	2819884	G G	GCATTTTA others(11): Show GCATTTTAACAAGATTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	18	c.41 others(29): Show c.4109_*4110insCATTTTAACAAGATTCCC	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4055		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01934.hp2 HG02300.hp2 HG01358.hp2 HG01934.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0002t0004g0206 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0002t0004g0206	3	360	0.0083	18	c.-26 others(37): Show c.-264+6817_-264+6834dupTATATATATATATATATA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	360	0.0028	18	c.-26 others(37): Show c.-264+6834_-264+6835insTATATATATATATATAAA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03834.hp1 HG02074.hp2 HG03834.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0006c0008t0001 a0002c0002t0001 a0006c0008t0001	a0002c0002t0001g0178 a0006c0008t0001g0127 a0002c0002t0001g0178 a0006c0008t0001g0127	2	378	0.0053	18	c.35 others(29): Show c.3564_*3565insAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32147884	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01346.hp1 others(2): Show HG00280.hp1 HG01123.hp1 HG01346.hp1 HG02135.hp2 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0017 a0002c0002t0002g0021 others(2): Show a0002c0002t0002g0004 a0002c0002t0002g0017 a0002c0002t0002g0021 a0002c0002t0002g0040 a0002c0002t0002g0082	5	398	0.0126	18	c.16 others(29): Show c.1655_*1656insTATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1121		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(11): Show ATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG03834.hp2 HG00099.hp1 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0052 a0002c0004t0003g0008 a0002c0004t0003g0052	2	398	0.0050	18	c.16 others(29): Show c.1637_*1638insAATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(11): Show ATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01981.hp2 HG00323.hp2 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0051 a0002c0004t0003g0008 a0002c0004t0003g0051	2	398	0.0050	18	c.16 others(29): Show c.1637_*1638insAAAATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0006 a0004c0005t0002g0006	1	398	0.0025	18	c.16 others(29): Show c.1637_*1638insAAAAAAAAAATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG02602.hp2 others(1): Show HG00280.hp1 HG01074.hp2 HG02602.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0038	a0001c0001t0002g0156 a0001c0001t0013g0371 a0001c0001t0019g0153 others(1): Show a0001c0001t0002g0156 a0001c0001t0013g0371 a0001c0001t0019g0153 a0001c0001t0038g0110	4	396	0.0101	18	c.101 others(35): Show c.1019-477_1019-460dupCACACACACACACACACA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(11): Show TTCTCTCCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01243.hp1 others(2): Show HG00639.hp1 HG01070.hp2 HG01243.hp1 HG01255.hp1 HG01496.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0040 others(1): Show a0001c0001 a0001c0002 a0001c0040 a0002c0010	a0001c0001t0002 a0001c0001t0004 a0001c0002t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0007 a0001c0040t0008 a0002c0010t0016	a0001c0001t0002g0352 a0001c0001t0004g0325 a0001c0002t0007g0326 others(2): Show a0001c0001t0002g0352 a0001c0001t0004g0325 a0001c0002t0007g0326 a0001c0040t0008g0311 a0002c0010t0016g0351	5	396	0.0126	18	c.280 others(35): Show c.280-4868_280-4867insGAGAGAGAGAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0169 a0003c0009t0007g0169	1	396	0.0025	18	c.280 others(35): Show c.280-4885_280-4868dupGAGAGAGAGAGAGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	396	0.0025	18	c.280 others(35): Show c.280-4893_280-4892insGGAGGGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp1 HG01934.hp2 others(3): Show HG00323.hp1 HG01261.hp1 HG01934.hp2 NA18986.hp1 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023	a0001c0001t0004 a0001c0001t0006 a0001c0002t0007 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0007 a0001c0002t0029 a0001c0003t0006 a0001c0023t0005	a0001c0001t0004g0269 a0001c0001t0006g0172 a0001c0002t0007g0378 others(3): Show a0001c0001t0004g0269 a0001c0001t0006g0172 a0001c0002t0007g0378 a0001c0002t0029g0363 a0001c0003t0006g0047 a0001c0023t0005g0234	6	396	0.0152	18	c.280 others(35): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947139	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01516.hp1 HG01069.hp2 HG01071.hp2 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0002t0002 a0001c0025t0004 a0001c0002t0001 a0001c0002t0002 a0001c0025t0004	a0001c0002t0001g0275 a0001c0002t0002g0274 a0001c0025t0004g0273 a0001c0002t0001g0275 a0001c0002t0002g0274 a0001c0025t0004g0273	3	396	0.0076	18	c.280 others(35): Show c.280-4895_280-4894insGGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74107322	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02615.hp1 others(5): Show HG02055.hp1 HG02280.hp2 HG02615.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp2 NA20300.hp1	a0006 a0009 a0012 others(1): Show a0006 a0009 a0012 a0036	a0006c0012 a0009c0010 a0012c0013 others(1): Show a0006c0012 a0009c0010 a0012c0013 a0036c0042	a0006c0012t0001 a0009c0010t0001 a0012c0013t0001 others(1): Show a0006c0012t0001 a0009c0010t0001 a0012c0013t0001 a0036c0042t0001	a0006c0012t0001g0233 a0006c0012t0001g0235 a0009c0010t0001g0303 others(5): Show a0006c0012t0001g0233 a0006c0012t0001g0235 a0009c0010t0001g0303 a0009c0010t0001g0305 a0012c0013t0001g0225 a0012c0013t0001g0226 a0012c0013t0001g0227 a0036c0042t0001g0302	8	318	0.0252	18	c.196 others(35): Show c.1963-830_1963-829insTGTGTGTGTGTGTGTGAG	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	12/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117199	A A	AATATATA others(11): Show AATATATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02976.hp2 HG02257.hp2 HG02258.hp2 HG02976.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0229 a0006c0008t0001g0236 a0006c0008t0001g0237 a0006c0008t0001g0229 a0006c0008t0001g0236 a0006c0008t0001g0237	3	318	0.0094	18	c.152 others(37): Show c.1520+1028_1520+1029insATTCATATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01516.hp2 HG02280.hp1 others(7): Show HG00639.hp2 HG01516.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02922.hp2 HG03195.hp2 HG03471.hp2 NA19240.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0004 a0007c0017 a0002c0003 a0004c0004 a0007c0017	a0002c0003t0001 a0004c0004t0001 a0007c0017t0001 a0002c0003t0001 a0004c0004t0001 a0007c0017t0001	a0002c0003t0001g0030 a0002c0003t0001g0208 a0002c0003t0001g0210 others(7): Show a0002c0003t0001g0030 a0002c0003t0001g0208 a0002c0003t0001g0210 a0004c0004t0001g0039 a0004c0004t0001g0041 a0004c0004t0001g0044 a0004c0004t0001g0047 a0004c0004t0001g0186 a0007c0017t0001g0194 a0007c0017t0001g0195	10	318	0.0315	18	c.152 others(35): Show c.1520+849_1520+866dupATATATATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146747	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01433.hp1 others(19): Show HG01109.hp1 HG01123.hp1 HG01433.hp1 HG02300.hp1 HG02896.hp1 HG03669.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18967.hp1 NA18979.hp1 NA18979.hp2 NA19003.hp1 NA19070.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA20805.hp2 NA20905.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0003 a0002c0005 a0008c0007 others(1): Show a0002c0003 a0002c0005 a0008c0007 a0010c0011	a0002c0003t0001 a0002c0005t0001 a0008c0007t0001 others(1): Show a0002c0003t0001 a0002c0005t0001 a0008c0007t0001 a0010c0011t0001	a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0075 others(19): Show a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0075 a0002c0003t0001g0078 a0002c0003t0001g0091 a0002c0003t0001g0187 a0002c0003t0001g0203 a0002c0003t0001g0207 a0002c0005t0001g0072 a0002c0005t0001g0073 a0002c0005t0001g0074 a0002c0005t0001g0087 a0002c0005t0001g0088 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0188 a0002c0005t0001g0189 a0008c0007t0001g0076 a0008c0007t0001g0211 a0008c0007t0001g0212 a0008c0007t0001g0216 a0010c0011t0001g0077	22	318	0.0692	18	c.484 others(35): Show c.484-6920_484-6919insATGTGTGTGTGTGTGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2orf50_chr2_11128128_11156317	11133310	G G	GCACACAC others(11): Show GCACACACACACACACACA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0037 a0001c0001t0047g0037	1	380	0.0026	18	c.-8_ others(23): Show c.-8_-7insACACACACACACACACAC	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	7	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(19): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG02135.hp1 HG02523.hp1 HG02630.hp1 HG04204.hp1 NA18947.hp2 NA18961.hp2 NA18978.hp1 NA18983.hp1 NA19009.hp2 NA19056.hp2 NA19075.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0002c0003t0002	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0221 a0001c0001t0005g0042 a0001c0001t0005g0048 a0001c0001t0005g0130 a0001c0001t0008g0219 a0002c0003t0002g0096	22	412	0.0534	18	c.334 others(35): Show c.334-3025_334-3008dupATATATATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	412	0.0024	18	c.334 others(35): Show c.334-3030_334-3029insTTATATATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf72_chr2_231032523_231054719	231044945	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp2 HG02723.hp1 others(1): Show HG01496.hp1 HG02630.hp2 HG02723.hp1 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0008 a0002c0001t0003 a0002c0001t0008	a0002c0001t0003g0067 a0002c0001t0003g0069 a0002c0001t0003g0080 others(1): Show a0002c0001t0003g0067 a0002c0001t0003g0069 a0002c0001t0003g0080 a0002c0001t0008g0061	4	460	0.0087	18	c.749 others(35): Show c.749-1936_749-1919dupTATATATATATATATATA	C2orf72	ENSG00000204128.6	transcript	ENST00000373640.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

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