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
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01943.hp2 others(20): Show HG00673.hp2 HG01081.hp1 HG01943.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02257.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03239.hp2 HG03540.hp2 NA18943.hp1 NA18954.hp2 NA18971.hp2 NA18999.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp2 NA19080.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0002c0002t0001g0168 a0003c0003t0001g0004	23	466	0.0494	34	c.-35 others(43): Show c.-356_-355insTATATATATATATATATATATATATATATATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244373331	A A	AATTTATA others(27): Show AATTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0429 a0001c0001t0001g0378 a0001c0001t0001g0429	2	452	0.0044	34	c.57- others(49): Show c.57-2041_57-2040insATTTATATATATATATATATATATATATAT ATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4			chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp2 HG02165.hp1 others(4): Show HG00609.hp1 HG01358.hp2 HG02165.hp1 HG02258.hp2 HG04199.hp1 NA18949.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0155 a0001c0001t0001g0309 a0001c0001t0001g0389 a0001c0001t0002g0119 a0001c0001t0003g0167	7	452	0.0155	34	c.57- others(49): Show c.57-2023_57-2022insATATATATATATATATATATATATATATAT ATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(47): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02145.hp2 HG02559.hp2 HG02647.hp2 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03831.hp1 HG03834.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19058.hp1 NA19065.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0003	a0001c0001t0001g0015 a0001c0001t0001g0103 a0001c0001t0001g0134 others(45): Show a0001c0001t0001g0015 a0001c0001t0001g0103 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0256 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0306 a0001c0001t0001g0329 a0001c0001t0001g0337 a0001c0001t0001g0375 a0001c0001t0002g0001 a0001c0001t0002g0058 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0339 a0001c0001t0002g0344 a0001c0001t0002g0349 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0410 a0001c0001t0003g0043 a0001c0001t0003g0157 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0270 a0001c0001t0003g0327 a0001c0001t0003g0435 a0003c0003t0003g0080	50	452	0.1106	34	c.57- others(49): Show c.57-2039_57-2038insTTATATATATATATATATATATATATATAT ATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf127_chr1_10941475_10987076	10975519	G G	GTAGGTAT others(27): Show GTAGGTATTCTTTTTGTTTTCTTAGAGATTAAGGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	392	0.0026	34	c.127 others(49): Show c.127+636_127+637insGCCTTAATCTCTAAGAAAACAAAAAGAATA CCTA	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	2/12			chr1	TogoVar
C1orf21_chr1_184382029_184634019	184386789	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03209.hp1 NA19043.hp1 HG02818.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0060 a0001c0001t0001 a0001c0001t0060	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0060g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0060g0012	3	232	0.0129	34	c.-70 others(43): Show c.-704_-703insCACACACACACACACACACACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		239		chr1	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0325 a0001c0001t0053g0325	1	360	0.0028	34	c.-26 others(53): Show c.-264+6834_-264+6835insTATATATATATATATATATATATATA TATATATA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp1 HG01517.hp2 others(2): Show HG01099.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0218 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0218 a0001c0001t0002g0251 a0001c0001t0002g0254	5	360	0.0139	34	c.-26 others(53): Show c.-264+6834_-264+6835insTATATATATATATATATATATATATA TATATAAA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01346.hp1 HG03516.hp1 HG00544.hp2 HG01346.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0022 a0002c0002t0001g0170 a0002c0002t0001g0172	3	378	0.0079	34	c.35 others(45): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46320744	C C	CAGGCTCT others(27): Show CAGGCTCTGCCCACATCAGAGATGCTTCCTTGCCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	378	0.0027	34	c.100 others(51): Show c.100+1861_100+1894dupTGGCAAGGAAGCATCTCTGATGTGGGCA GAGCCT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	1/7			chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146075	A A	ATATATAA others(27): Show ATATATAATATAATACAATATAATATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	398	0.0025	34	c.34 others(45): Show c.3464_*3465insATATATAATATATTATATTGTATTATATTATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2930		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(27): Show TTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG03688.hp1 others(3): Show HG00099.hp2 HG01074.hp1 HG03688.hp1 HG03942.hp2 NA19065.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0001c0003t0008	a0001c0001t0002g0145 a0001c0001t0004g0288 a0001c0001t0005g0287 others(3): Show a0001c0001t0002g0145 a0001c0001t0004g0288 a0001c0001t0005g0287 a0001c0002t0001g0315 a0001c0002t0007g0346 a0001c0003t0008g0347	6	396	0.0152	34	c.280 others(51): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGG GAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18945.hp2 NA18951.hp2 HG02896.hp1 NA18945.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003	a0001c0002t0011g0334 a0001c0003t0001g0271 a0001c0003t0003g0333 a0001c0002t0011g0334 a0001c0003t0001g0271 a0001c0003t0003g0333	3	396	0.0076	34	c.280 others(51): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp2 HG02129.hp1 others(1): Show HG00609.hp2 HG01106.hp2 HG02129.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0009 a0001c0001 a0001c0003 a0003c0009	a0001c0001t0002 a0001c0001t0004 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0003 a0003c0009t0007	a0001c0001t0002g0386 a0001c0001t0004g0144 a0001c0003t0003g0372 others(1): Show a0001c0001t0002g0386 a0001c0001t0004g0144 a0001c0003t0003g0372 a0003c0009t0007g0343	4	396	0.0101	34	c.280 others(51): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18980.hp1 NA18988.hp2 HG02132.hp1 NA18980.hp1 NA18988.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0061 a0002c0003t0001g0070 a0002c0003t0001g0071	3	318	0.0094	34	c.152 others(51): Show c.1520+866_1520+867insATATATATATATATATATATATATATAT ATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	403985	C C	CCCCGAGG others(27): Show CCCCGAGGGGTGTGGGGGGGGGGACGGGGCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	2	322	0.0062	34	c.31 others(45): Show c.3110_*3111insACAGGGCCCCGTCCCCCCCCCCACACCCCTCGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1459		chr19	TogoVar
C2CD4C_chr19_400445_414147	403996	G G	GTGAGGGG others(27): Show GTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	322	0.0031	34	c.30 others(45): Show c.3099_*3100insGACCCCTCAGGGCAGGACCCCGTCCCCCCCCTCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1448		chr19	TogoVar
C2CD4C_chr19_400445_414147	404057	G G	GGTCTGAG others(27): Show GGTCTGAGGGGGTACGGGGTCCTGCCCCGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0018 a0001c0001t0017g0018	1	322	0.0031	34	c.30 others(45): Show c.3038_*3039insACCCCTCGGGGCAGGACCCCGTACCCCCTCAGAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1387		chr19	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(27): Show TGGGGGGGACGGGGGTCCTGTCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0093 a0001c0001t0041 a0001c0001t0093	a0001c0001t0041g0034 a0001c0001t0093g0149 a0001c0001t0041g0034 a0001c0001t0093g0149	2	322	0.0062	34	c.29 others(45): Show c.2970_*2971insTCACACCCCTCGGGACAGGACCCCCGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1319		chr19	TogoVar
C2CD4C_chr19_400445_414147	404311	G G	GTGTGGAG others(27): Show GTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA19066.hp2 NA19074.hp2 others(2): Show HG02155.hp2 NA19066.hp2 NA19074.hp2 NA19090.hp1 NA19091.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0002 a0000c0003 a0001c0001 a0001c0002	a0000c0003t0008 a0001c0001t0008 a0001c0001t0027 others(1): Show a0000c0003t0008 a0001c0001t0008 a0001c0001t0027 a0001c0002t0131	a0000c0003t0008g0115 a0001c0001t0008g0016 a0001c0001t0027g0041 others(1): Show a0000c0003t0008g0115 a0001c0001t0008g0016 a0001c0001t0027g0041 a0001c0002t0131g0140	5	322	0.0155	34	c.27 others(45): Show c.2784_*2785insACCCCTCAGGGCAGGACCCCATCCCCCCTCCACA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1133		chr19	TogoVar
C2CD4C_chr19_400445_414147	404516	G G	GGGATGGG others(27): Show GGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG03098.hp1 others(4): Show HG00639.hp1 HG02145.hp2 HG03098.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0014 a0001c0001t0032 a0001c0001t0033 others(4): Show a0001c0001t0014 a0001c0001t0032 a0001c0001t0033 a0001c0001t0097 a0001c0001t0112 a0001c0001t0125 a0002c0005t0057	a0001c0001t0014g0009 a0001c0001t0032g0030 a0001c0001t0033g0040 others(4): Show a0001c0001t0014g0009 a0001c0001t0032g0030 a0001c0001t0033g0040 a0001c0001t0097g0062 a0001c0001t0112g0092 a0001c0001t0125g0100 a0002c0005t0057g0144	7	322	0.0217	34	c.25 others(45): Show c.2579_*2580insACCCCCTCAGACCCCTCAGGGCAGGACCCCATCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		928		chr19	TogoVar
C2CD4C_chr19_400445_414147	405024	T T	TGGAGGGG others(27): Show TGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA19030.hp1 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0113 a0001c0001t0097 a0001c0001t0113	a0001c0001t0097g0062 a0001c0001t0113g0063 a0001c0001t0097g0062 a0001c0001t0113g0063	2	322	0.0062	34	c.20 others(45): Show c.2071_*2072insCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		420		chr19	TogoVar
C2CD4C_chr19_400445_414147	405031	A A	AACGGGGG others(27): Show AACGGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0088 a0001c0016t0088	a0001c0016t0088g0053 a0001c0016t0088g0053	1	322	0.0031	34	c.20 others(45): Show c.2064_*2065insCCCCCCTCCACACCCCTCAGGGCAGGACCCCCGT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		413		chr19	TogoVar
C2_chr6_31922717_31950672	31949478	T T	TTCCAAGA others(27): Show TTCCAAGAAAGACAATGAGCAACATGTGTTCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	395	0.0025	34	c.41 others(45): Show c.4121_*4122insTCCAAGAAAGACAATGAGCAACATGTGTTCAAAG	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding		3807		chr6	TogoVar
C2orf69_chr2_199906293_199933273	199922029	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03139.hp1 HG03669.hp1 HG02165.hp1 HG03139.hp1 HG03669.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0004c0005 a0001c0002 a0003c0004 a0004c0005	a0001c0002t0002 a0003c0004t0006 a0004c0005t0006 a0001c0002t0002 a0003c0004t0006 a0004c0005t0006	a0001c0002t0002g0079 a0003c0004t0006g0197 a0004c0005t0006g0207 a0001c0002t0002g0079 a0003c0004t0006g0197 a0004c0005t0006g0207	3	412	0.0073	34	c.334 others(51): Show c.334-3032_334-3031insATATATATATATATATATATATATATAT ATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01255.hp2 others(20): Show HG00099.hp1 HG00423.hp2 HG01255.hp2 HG01346.hp2 HG01928.hp2 HG02074.hp1 HG02145.hp1 HG02273.hp2 HG02896.hp2 HG02970.hp2 HG03453.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18982.hp1 NA18988.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0002t0002 a0002c0003t0002 a0003c0004t0007	a0001c0001t0003g0004 a0001c0001t0003g0029 a0001c0001t0003g0171 others(11): Show a0001c0001t0003g0004 a0001c0001t0003g0029 a0001c0001t0003g0171 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0006g0065 a0001c0001t0006g0201 a0001c0001t0006g0204 a0001c0001t0017g0004 a0001c0002t0002g0041 a0001c0002t0002g0080 a0001c0002t0002g0088 a0002c0003t0002g0244 a0003c0004t0007g0211	23	412	0.0558	34	c.334 others(51): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT ATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3_chr19_6672704_6725650	6689327	A A	ACCTATCT others(27): Show ACCTATCTCTCTCTCTCTCTCTCTCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03139.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0067 a0001c0010t0001g0218 a0001c0010t0001g0345 a0001c0010t0001g0067 a0001c0010t0001g0218 a0001c0010t0001g0345	3	370	0.0081	34	c.348 others(53): Show c.3489+1301_3489+1302insGAGGGAGAGAGAGAGAGAGAGAGAGA GAGATAGG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40			chr19	TogoVar
C3orf20_chr3_14670141_14778036	14773525	A A	AGGGAGGG others(27): Show AGGGAGGGGAGGAGGAGGAACAAGTAAGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0194 a0013c0014t0001g0194	1	380	0.0026	34	c.65 others(43): Show c.650_*651insGGGAGGGGAGGAGGAGGAACAAGTAAGGAGGGAG	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding		490		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185134116	C C	CTCATATA others(27): Show CTCATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01358.hp2 others(1): Show HG00735.hp2 HG00741.hp1 HG01358.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0134 a0001c0001t0135 others(1): Show a0001c0001t0029 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136	a0001c0001t0029g0372 a0001c0001t0134g0373 a0001c0001t0135g0367 others(1): Show a0001c0001t0029g0372 a0001c0001t0134g0373 a0001c0001t0135g0367 a0001c0001t0136g0369	4	388	0.0103	34	c.196 others(53): Show c.196+18511_196+18512insATATATATATATATATATATATATAT ATATATGA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf84_chr3_49172634_49196858	49194292	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	306	0.0033	34	c.-25 others(45): Show c.-2522_-2521insTATATATATATATATATATATATATATATATATA	C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding		2435		chr3	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	358	0.0028	34	c.715 others(51): Show c.715-1621_715-1620insATATATATATATATATATATTTTTTTTT TTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	358	0.0028	34	c.715 others(51): Show c.715-1621_715-1620insATATATATATATATATATTTTTTTTTTT TTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6012551	C C	CTGCATTA others(27): Show CTGCATTACTTAGTCTTCCAGATGAGAAGCTGGAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0091 a0091	a0091c0096 a0091c0096	a0091c0096t0000 a0091c0096t0000	a0091c0096t0000g0150 a0091c0096t0000g0150	1	346	0.0029	34	c.288 others(49): Show c.288-617_288-584dupTTCCAGCTTCTCATCTGGAAGACTAAGTAA TGCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	1/11			chr4	TogoVar
C5_chr9_120947335_121055275	120986621	T T	TGTGGGGC others(27): Show TGTGGGGCTTTCTGCTCTCCAGGCATCTATTTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02109.hp1 others(9): Show HG00639.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02647.hp2 HG02896.hp1 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 a0003c0004t0001 a0004c0005t0001 a0004c0005t0002	a0003c0004t0001g0015 a0003c0004t0001g0022 a0004c0005t0001g0004 others(8): Show a0003c0004t0001g0015 a0003c0004t0001g0022 a0004c0005t0001g0004 a0004c0005t0001g0211 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0002g0212 a0004c0005t0002g0213 a0004c0005t0002g0214 a0004c0005t0002g0215	12	276	0.0435	34	c.323 others(53): Show c.3230+2391_3230+2424dupGGGAAATAGATGCCTGGAGAGCAGAA AGCCCCAC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	25/40			chr9	TogoVar
C5_chr9_120947335_121055275	121002222	A A	ATGTATAT others(27): Show ATGTATATATGTATATATGTATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03486.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG03486.hp2 NA20129.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0069 a0006c0008t0001g0104 a0006c0008t0001g0105 others(1): Show a0006c0008t0001g0069 a0006c0008t0001g0104 a0006c0008t0001g0105 a0006c0008t0001g0106	4	276	0.0145	34	c.256 others(53): Show c.2562+3696_2562+3697insCATATATATACATATACATATATACA TATATACA	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	20/40			chr9	TogoVar
C5orf52_chr5_157666533_157685158	157684960	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTTCAGGAAAAGTCATTACAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	34	c.49 others(45): Show c.4961_*4962insTTTTTTTTTTTTTCAGGAAAAGTCATTACAAATG	C5orf52	ENSG00000187658.7	transcript	ENST00000409999.4	protein_coding		4803		chr5	TogoVar
C5orf63_chr5_127046304_127078502	127075275	A A	ATCAGTAA others(27): Show ATCAGTAAGAATTTCTTGGGTTTGTAAGTGATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	350	0.0029	34	c.-19 others(45): Show c.-1935_-1934insGCTATCACTTACAAACCCAAGAAATTCTTACTGA	C5orf63	ENSG00000164241.14	transcript	ENST00000296662.10	protein_coding		1774		chr5	TogoVar
C7orf33_chr7_148585766_148620860	148595425	A A	ATATATCT others(27): Show ATATATCTATATAATATAGATATATATTATATAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG02109.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0430 a0002c0002t0005g0431 a0002c0002t0005g0430 a0002c0002t0005g0431	2	444	0.0045	34	c.204 others(51): Show c.204+4302_204+4335dupCTATATAATATAGATATATATTATATAG CTATAT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1011625	T T	TACACACC others(27): Show TACACACCCAGACACCCACAAACACCCAGATACCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	34	c.130 others(51): Show c.130-1516_130-1483dupGGGTATCTGGGTGTTTGTGGGTGTCTGG GTGTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1135912	T T	TATAAGTA others(27): Show TATAAGTATATATAAATATATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG01496.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0305 a0001c0001t0005g0287 a0001c0001t0005g0305	2	326	0.0061	34	c.-2+ others(49): Show c.-2+1402_-2+1403insTTATATATACTTATATATATTTATATATAC TTAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTTTC others(27): Show TCCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0351 a0002c0001t0002g0351	1	404	0.0025	34	c.606 others(49): Show c.606-891_606-890insCCTTTTCTCTTCTCTTCTCTTCTCTTCTCT TCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68466765	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02258.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0023 a0002c0003t0001g0028 a0001c0001t0003g0023 a0002c0003t0001g0028	2	128	0.0156	34	c.608 others(51): Show c.608-1927_608-1926insTATATATATATATATATATATATATATA TATATG	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13			chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0008 a0001c0014t0004g0008	1	128	0.0078	34	c.154 others(53): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT TTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf88_chr8_90953471_90990238	90968657	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02683.hp2 HG03041.hp1 HG02257.hp2 HG02683.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0002g0080 a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0002g0080	3	368	0.0082	34	c.223 others(51): Show c.223+2408_223+2409insATATATATATATATATATATATATATAT ATATAT	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	4/5			chr8	TogoVar
C9_chr5_39279140_39369495	39282138	T T	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0329 a0002c0002t0001g0329	1	394	0.0025	34	c.30 others(45): Show c.3060_*3061insGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2001		chr5	TogoVar
CA10_chr17_51625320_52163714	51717635	G G	GTATATAT others(27): Show GTATATATGTATATATACACATATGTGCATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG00741.hp2 others(35): Show HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG02056.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 NA18950.hp1 NA18951.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18974.hp1 NA18982.hp1 NA19010.hp1 NA19011.hp1 NA19062.hp1 NA19078.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 others(35): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0002g0012 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0004g0099 a0001c0001t0008g0096 a0001c0001t0011g0155 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0144	38	156	0.2436	34	c.465 others(53): Show c.465+29997_465+29998insTATATATGCACATATGTGTATATATA CATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51717826	T T	TATATATA others(27): Show TATATATACATGTATATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG01123.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0090 a0001c0001t0002g0027 a0001c0001t0002g0090	2	156	0.0128	34	c.465 others(53): Show c.465+29806_465+29807insGTATATATATACATATATATATACAT GTATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA11_chr19_48632946_48651187	48647292	C C	CTTGGCCT others(27): Show CTTGGCCTCCATTACAGAGCATGACAACCATACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	34	c.-16 others(45): Show c.-1661_-1660insCGGTATGGTTGTCATGCTCTGTAATGGAGGCCAA	CA11	ENSG00000063180.9	transcript	ENST00000084798.9	protein_coding		1106		chr19	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	356	0.0028	34	c.86- others(47): Show c.86-923_86-922insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 NA20300.hp1 HG01256.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0044 a0001c0001t0001g0055	2	400	0.0050	34	c.-13 others(45): Show c.-1350_-1349insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar

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Search Results (Total: 7994 hits)