Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
CEP85L_chr6_118455772_118656591	118651683	C C	CGGGGCGG others(41): Show CGGGGCGGGGACTGCGGGGGGCGGGGACTGCGGGGGGCGGGGACTGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA19002.hp2 HG00597.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0092 a0001c0001t0004g0072 a0001c0001t0004g0092	2	302	0.0066	48	c.-41 others(57): Show c.-415_-414insCCGCAGTCCCCGCCCCCCGCAGTCCCCGCCCCCCGC AGTCCCCGCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		93		chr6	TogoVar
CEP85_chr1_26229200_26283808	26282328	A A	AGGGACTG others(41): Show AGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01106.hp1 others(20): Show HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02074.hp1 HG02080.hp2 HG02148.hp2 HG02300.hp2 NA18939.hp2 NA18940.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18997.hp2 NA19068.hp2 NA19083.hp1 NA19090.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0002 a0001c0001t0005 a0007c0013t0005 a0001c0001t0002 a0001c0001t0005 a0007c0013t0005	a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0066 others(18): Show a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0005g0002 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0083 a0001c0001t0005g0084 a0007c0013t0005g0028	23	342	0.0673	48	c.50 others(59): Show c.5035_*5036insGGGACTGGGGCCGGGACCGGGACCGGGACTGGGG CCGGGACCGGGACC	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3521		chr1	TogoVar
CER1_chr9_14714724_14727733	14719553	G G	GCATTCCT others(41): Show GCATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	460	0.0022	48	c.53 others(57): Show c.536_*537insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAATG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		170		chr9	TogoVar
CERS3_chr15_100395395_100533950	100466812	C C	CCTCTCCC others(41): Show CCTCTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02717.hp2 HG00140.hp1 HG02717.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0002 a0001c0001t0002 a0004c0005t0002	a0001c0001t0002g0289 a0004c0005t0002g0254 a0001c0001t0002g0289 a0004c0005t0002g0254	2	362	0.0055	48	c.845 others(65): Show c.845+2565_845+2566insAAAGAGAGAAAGAGAGAAAGAGAGAAAG AGAGAGAGAGAGAGGGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(41): Show CTTTCTCTCTTTCTCCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0344 a0001c0003t0010g0344	1	362	0.0028	48	c.845 others(65): Show c.845+2546_845+2547insAGAGAGAGAGAGAGAGAGAGAAAGAGAG AAAGAGGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(41): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	362	0.0028	48	c.845 others(65): Show c.845+2546_845+2547insAAGAGAGAGAGAGAGAGAGAGAAAGAGA GAAAGAGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466849	T T	TTCTCTCT others(41): Show TTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03491.hp2 HG02080.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0285 a0001c0001t0018g0078 a0001c0001t0002g0285 a0001c0001t0018g0078	2	362	0.0055	48	c.845 others(65): Show c.845+2528_845+2529insGAAAGAGAGAAAGAGAGAAAGAGAGAGA GAGAGAGAGAGAAAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466856	T T	TTTCTCTC others(41): Show TTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTCTCTCTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	362	0.0028	48	c.845 others(65): Show c.845+2521_845+2522insGAGAGAGAAAGAGAGAGAAGAGAGAAAG AGAGAGAGAGAGAGAGAGAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG02055.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 NA18947.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0004t0001	a0001c0001t0004g0098 a0001c0001t0007g0141 a0001c0001t0007g0171 others(3): Show a0001c0001t0004g0098 a0001c0001t0007g0141 a0001c0001t0007g0171 a0001c0001t0018g0106 a0001c0004t0001g0004 a0001c0004t0001g0007	6	320	0.0188	48	c.197 others(67): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 NA18964.hp2 HG03098.hp2 HG03209.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0062 a0001c0001t0007g0119 a0001c0001t0009g0002 a0001c0001t0002g0062 a0001c0001t0007g0119 a0001c0001t0009g0002	3	176	0.0171	48	c.277 others(65): Show c.277-1459_277-1458insTTTATATATATATATATATATATATATA TATATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(41): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0044 a0044	a0044c0066 a0044c0066	a0044c0066t0003 a0044c0066t0003	a0044c0066t0003g0073 a0044c0066t0003g0073	1	449	0.0022	48	c.112 others(67): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAGAAAAAGAAAAA AAAAAAAGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP276_chr1_109100951_109117747	109113409	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	404	0.0025	48	c.-73 others(57): Show c.-731_-730insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC TCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		663		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113413	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0039 a0007c0009t0001g0039	1	404	0.0025	48	c.-73 others(57): Show c.-735_-734insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTC TCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		667		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80390730	T T	TATATGTA others(41): Show TATATGTATATATGTATATACACACATATGTATATATGTATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	96	0.0104	48	c.242 others(67): Show c.242+27865_242+27866insCACACATATGTATATATGTATATACA CACATATGTATATATGTATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(41): Show ACCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	436	0.0023	48	c.143 others(65): Show c.143+1240_143+1241insGGGGGGGTGCGCGTGCCCGCCCAGAGGT TGAGCGGGGGGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132906551	A A	AGCGTGAT others(41): Show AGCGTGATGCCCCGTCCTGGGCACTGAGAAGAGTGAACGGGGTCCTGGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01069.hp2 others(18): Show HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01257.hp2 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0012 a0017 a0021 others(12): Show a0012 a0017 a0021 a0022 a0026 a0043 a0049 a0059 a0064 a0067 a0068 a0069 a0070 a0072 a0074	a0012c0025 a0012c0076 a0017c0026 others(15): Show a0012c0025 a0012c0076 a0017c0026 a0017c0094 a0021c0016 a0022c0041 a0022c0042 a0026c0081 a0043c0040 a0049c0106 a0059c0082 a0064c0101 a0067c0069 a0068c0071 a0069c0070 a0070c0074 a0072c0075 a0074c0109	a0012c0025t0002 a0012c0076t0001 a0017c0026t0002 others(15): Show a0012c0025t0002 a0012c0076t0001 a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0026c0081t0002 a0043c0040t0001 a0049c0106t0002 a0059c0082t0002 a0064c0101t0002 a0067c0069t0002 a0068c0071t0002 a0069c0070t0002 a0070c0074t0002 a0072c0075t0001 a0074c0109t0002	a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0076t0001g0131 others(18): Show a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0076t0001g0131 a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0026c0081t0002g0098 a0043c0040t0001g0174 a0049c0106t0002g0102 a0059c0082t0002g0100 a0064c0101t0002g0022 a0067c0069t0002g0015 a0068c0071t0002g0003 a0069c0070t0002g0008 a0070c0074t0002g0006 a0072c0075t0001g0235 a0074c0109t0002g0104	21	246	0.0854	48	c.292 others(67): Show c.2924+1869_2924+1916dupGCCAGGACCCCGTTCACTCTTCTCAG TGCCCAGGACGGGGCATCACGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132906561	C C	CCCGTCCT others(41): Show CCCGTCCTGGGCACTGAGAAGAGTGAACGGGGTCCTGGCGCGTGATGCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	48	c.292 others(67): Show c.2924+1906_2924+1907insAGCATCACGCGCCAGGACCCCGTTCA CTCTTCTCAGTGCCCAGGACGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132906647	C C	CGCGTGAT others(41): Show CGCGTGATGCCCCGTCCTGGGCACTGAGAAGAGTGAACGGGGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0065 a0065	a0065c0102 a0065c0102	a0065c0102t0002 a0065c0102t0002	a0065c0102t0002g0018 a0065c0102t0002g0018	1	246	0.0041	48	c.292 others(67): Show c.2924+1820_2924+1821insACCAGGACCCCGTTCACTCTTCTCAG TGCCCAGGACGGGGCATCACGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923874	T T	TATATATA others(41): Show TATATATATGTACATATATGTATACACATATATATGTGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0050 a0050	a0050c0062 a0050c0062	a0050c0062t0001 a0050c0062t0001	a0050c0062t0001g0216 a0050c0062t0001g0216	1	216	0.0046	48	c.250 others(65): Show c.250-2137_250-2136insATGTACATATATGTATACACATATATAT GTGTATATATGTACATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	316	0.0032	48	c.117 others(67): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20337317	G G	GATAGATG others(41): Show GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGATGGATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02809.hp2 others(3): Show HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0024 a0002c0009 a0008c0020 a0001c0024 a0002c0009 a0008c0020	a0001c0024t0008 a0002c0009t0001 a0002c0009t0002 others(2): Show a0001c0024t0008 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0008c0020t0002	a0001c0024t0008g0176 a0002c0009t0001g0105 a0002c0009t0002g0104 others(3): Show a0001c0024t0008g0176 a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0008c0020t0002g0123	6	236	0.0254	48	c.342 others(67): Show c.3423-4512_3423-4511insAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGATGGATAAAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337374	A A	ATAGATGG others(41): Show ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp2 others(52): Show HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG03579.hp2 HG04228.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA19007.hp1 NA19007.hp2 NA19070.hp2 NA19090.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0010 a0012 a0014 a0020 a0021	a0001c0001 a0001c0006 a0002c0002 others(7): Show a0001c0001 a0001c0006 a0002c0002 a0004c0008 a0007c0010 a0010c0016 a0012c0019 a0014c0031 a0020c0040 a0021c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0004c0008t0001 a0007c0010t0003 a0010c0016t0002 a0012c0019t0003 a0014c0031t0002 a0020c0040t0002 a0021c0041t0001	a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(52): Show a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0075 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0200 a0001c0001t0003g0092 a0001c0001t0004g0014 a0001c0001t0007g0008 a0001c0006t0001g0167 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0072 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0189 a0002c0002t0001g0234 a0002c0002t0002g0027 a0002c0002t0002g0182 a0002c0002t0004g0001 a0002c0002t0005g0108 a0002c0002t0005g0114 a0002c0002t0005g0137 a0004c0008t0001g0055 a0007c0010t0003g0133 a0010c0016t0002g0044 a0010c0016t0002g0165 a0012c0019t0003g0120 a0014c0031t0002g0043 a0020c0040t0002g0160 a0021c0041t0001g0210	55	236	0.2331	48	c.342 others(67): Show c.3423-4456_3423-4455insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73270522	T T	TTCCCACT others(41): Show TTCCCACTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(51): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01256.hp1 HG01261.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp2 HG02523.hp2 HG02698.hp1 HG02809.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03688.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19083.hp2 NA20129.hp1 NA20129.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0008 a0011	a0002c0002 a0002c0013 a0004c0004 others(3): Show a0002c0002 a0002c0013 a0004c0004 a0006c0015 a0008c0012 a0011c0014	a0002c0002t0001 a0002c0013t0001 a0004c0004t0001 others(3): Show a0002c0002t0001 a0002c0013t0001 a0004c0004t0001 a0006c0015t0001 a0008c0012t0001 a0011c0014t0001	a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0030 others(51): Show a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0013t0001g0021 a0004c0004t0001g0017 a0004c0004t0001g0019 a0006c0015t0001g0025 a0008c0012t0001g0023 a0011c0014t0001g0054	54	220	0.2455	48	c.313 others(65): Show c.3136-808_3136-807insGGGGAGGGGAGGGGAGGGGAGGGGAGAG GGGAGGGGAGGGGAGTGGGA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	25/27			chr10	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(41): Show TAATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	354	0.0028	48	c.58- others(65): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18984.hp2 NA19062.hp1 others(3): Show NA18747.hp1 NA18984.hp2 NA19062.hp1 NA19066.hp2 NA19082.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0077 a0001c0002t0001g0078 others(3): Show a0001c0002t0001g0057 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0138	6	354	0.0170	48	c.58- others(65): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(41): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18994.hp1 HG00673.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0256 a0001c0001t0011g0023 a0001c0001t0001g0256 a0001c0001t0011g0023	2	352	0.0057	48	c.-12 others(65): Show c.-12+1927_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1B_chr21_36380392_36424015	36401352	A A	AATATATT others(41): Show AATATATTTTTATATTATACATAATATATATTTTTATATTATACATAAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	346	0.0029	48	c.664 others(65): Show c.664-1204_664-1157dupTATATTATACATAATATATATTTTTATA TTATACATAATATATATTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401597	A A	ATTTTTAT others(41): Show ATTTTTATATTATACATAATATATATTTTATATTATACATAATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01516.hp2 others(2): Show HG01123.hp2 HG01175.hp1 HG01516.hp2 HG02615.hp1 HG02970.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0010 a0003c0003t0001 a0002c0002t0010 a0003c0003t0001	a0002c0002t0010g0068 a0002c0002t0010g0074 a0002c0002t0010g0078 others(2): Show a0002c0002t0010g0068 a0002c0002t0010g0074 a0002c0002t0010g0078 a0003c0003t0001g0056 a0003c0003t0001g0207	5	346	0.0145	48	c.664 others(65): Show c.664-1157_664-1156insTATATTATACATAATATATATTTTATAT TATACATAATATATATTTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132900230	C C	CAAATCAC others(41): Show CAAATCACACTCATTCTTATCTTCTATATAAAAATGAGAAAGGCCAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(209): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(209): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0129 a0001c0001t0004g0049 a0001c0001t0005g0308 a0001c0001t0006g0310 a0001c0004t0002g0041 a0002c0002t0001g0248	212	310	0.6839	48	c.370 others(67): Show c.370-14486_370-14485insTTCTGGCCTTTCTCATTTTTATATAG AAGATAAGAATGAGTGTGATTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126792224	C C	CTTAGAAT others(41): Show CTTAGAATATATATTCTAATATAGAATATATATTCTAATATAGAATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18980.hp1 NA18943.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0142 a0001c0001t0001g0180	2	216	0.0093	48	c.411 others(67): Show c.411+59020_411+59067dupATATAGAATATATATTCTAATATAGA ATATATTAGAATATATATTCTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863857	A A	ACCTCCTC others(41): Show ACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCAACACCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	216	0.0046	48	c.495 others(67): Show c.495+11139_495+11186dupTCCACCATCACCACCTCCTCCTCCAC CATCAACACCTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126864931	A A	ACCTCCTC others(41): Show ACCTCCTCCTCCACCATCATCTCCTCCTCCTCCTCCACCATCATCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG02148.hp1 others(1): Show HG00323.hp1 HG01123.hp1 HG02148.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	4	216	0.0185	48	c.495 others(67): Show c.495+12230_495+12231insTCCTCCACCATCATCTCCTCCTCCTC CTCCACCATCATCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(41): Show GTGTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	238	0.0042	48	c.-16 others(67): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(41): Show TATATATGTATATATATATATGAATATATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 NA19240.hp1 HG01109.hp1 HG02559.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0237	3	245	0.0122	48	c.124 others(65): Show c.1244+108_1244+109insTCATATATATATTCATATATATATATTC ATATATATATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689524	C C	CTATATAT others(41): Show CTATATATCTATATATATCTATATATCTATATATCTATATATATCTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03540.hp2 HG03041.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0045 a0001c0001t0012 a0002c0003t0045	a0001c0001t0012g0131 a0002c0003t0045g0008 a0001c0001t0012g0131 a0002c0003t0045g0008	2	172	0.0116	48	c.779 others(63): Show c.779-722_779-721insTATAGATATATATAGATATATAGATATATA GATATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRM1_chr11_62903679_62926363	62924674	A A	ACATATAT others(41): Show ACATATATATATGTGTGTGTATATATATATATACATATATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	420	0.0024	48	c.-35 others(59): Show c.-3536_-3535insCACACATATATATATGTATATATATATATACACA CACATATATATATG	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3312		chr11	TogoVar
CHRM2_chr7_136863652_137025213	137000567	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01433.hp2 others(2): Show HG01168.hp1 HG01169.hp1 HG01433.hp2 NA19007.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0017 a0001c0001t0002 a0001c0001t0008 a0001c0002t0017	a0001c0001t0002g0092 a0001c0001t0008g0083 a0001c0001t0008g0084 others(2): Show a0001c0001t0002g0092 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0002t0017g0241	5	320	0.0156	48	c.-47 others(65): Show c.-47+8328_-47+8329insAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239580704	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02738.hp1 HG01261.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0098 a0001c0001t0008g0072 a0001c0001t0001g0098 a0001c0001t0008g0072	2	116	0.0172	48	c.-31 others(69): Show c.-313+34956_-313+34957insTATATATATATATATATATATATA TATATATATATATATATACATACA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(41): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG01515.hp1 others(1): Show HG00140.hp2 HG00438.hp2 HG01515.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0109 a0001c0001t0002g0059 a0001c0001t0004g0024 others(1): Show a0001c0001t0001g0109 a0001c0001t0002g0059 a0001c0001t0004g0024 a0001c0001t0022g0008	4	116	0.0345	48	c.-24 others(69): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03130.hp1 HG03195.hp1 HG02083.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0001 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0058 a0001c0001t0014g0075 a0001c0001t0018g0022 a0001c0001t0001g0058 a0001c0001t0014g0075 a0001c0001t0018g0022	3	116	0.0259	48	c.-14 others(67): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST11_chr12_104451948_104767014	104544163	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02145.hp1 others(2): Show HG01109.hp2 HG01496.hp2 HG02145.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0065	a0001c0001t0001g0122 a0001c0001t0002g0149 a0001c0001t0002g0221 others(2): Show a0001c0001t0001g0122 a0001c0001t0002g0149 a0001c0001t0002g0221 a0001c0001t0027g0121 a0001c0001t0065g0054	5	240	0.0208	48	c.119 others(67): Show c.119-57740_119-57739insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAG	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104544167	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	240	0.0042	48	c.119 others(67): Show c.119-57736_119-57735insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAG	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST15_chr10_124002668_124098598	124034994	C C	CCCCTGAT others(41): Show CCCCTGATAGGTACCCTGGCTTCATCCCCTAACAGGGACCCTGGCTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02280.hp2 others(7): Show HG01884.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02886.hp2 HG03139.hp1 HG03471.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0177 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0245	10	392	0.0255	48	c.119 others(67): Show c.1190+3520_1190+3521insTGGAGCCAGGGTCCCTGTTAGGGGAT GAAGCCAGGGTACCTATCAGGG	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST5_chr16_75523530_75541108	75526200	A A	AGTGTGCA others(41): Show AGTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02572.hp1 others(2): Show HG02257.hp2 HG02280.hp1 HG02572.hp1 HG03225.hp1 HG03579.hp1	a0005 a0006 a0005 a0006	a0005c0008 a0006c0010 a0005c0008 a0006c0010	a0005c0008t0005 a0005c0008t0010 a0006c0010t0010 a0005c0008t0005 a0005c0008t0010 a0006c0010t0010	a0005c0008t0005g0073 a0005c0008t0010g0028 a0006c0010t0010g0027 a0005c0008t0005g0073 a0005c0008t0010g0028 a0006c0010t0010g0027	5	394	0.0127	48	c.29 others(59): Show c.2948_*2949insACACATGCACACTCACATGCACACTCACATGCAC ACACACATGCACAC	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2329		chr16	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	254	0.0039	48	c.131 others(65): Show c.131-6340_131-6339insATATATATATATATATATATATATATAT ATATATATATATGTATGTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143808	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0162 a0003c0004t0004g0162	1	276	0.0036	48	c.108 others(69): Show c.1087-40420_1087-40419insATATATATATATATATATATATAT ATATATATATATGTGTGTATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIB4_chr2_26576205_26646366	26589036	T T	TTCTTCTT others(41): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	344	0.0029	48	c.329 others(65): Show c.329-5139_329-5138insGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93697754	A A	ATATATAT others(41): Show ATATATATATACATATATATACATGTATATATATACATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00621.hp1 others(91): Show HG00099.hp2 HG00408.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02965.hp2 HG03098.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19010.hp1 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0031 a0002c0002t0004 a0002c0002t0007 a0002c0002t0026 a0003c0003t0001 a0005c0007t0002	a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0089 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0118 a0001c0001t0003g0016 a0001c0001t0003g0158 a0001c0001t0011g0147 a0001c0001t0017g0070 a0001c0001t0018g0013 a0001c0001t0027g0079 a0001c0001t0031g0001 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0155 a0002c0002t0007g0024 a0002c0002t0026g0153 a0003c0003t0001g0092 a0003c0003t0001g0099 a0003c0003t0001g0116 a0005c0007t0002g0066	94	374	0.2513	48	c.-28 others(59): Show c.-2894_-2893insTATATATATACATATATATACATGTATATATATA CATATATATACATG	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2795		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(41): Show TACATATATATACATGTATATATATACATATATATACATGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 NA18997.hp1 HG00438.hp2 HG00544.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0047 a0001c0001t0002g0006 a0001c0001t0002g0047	3	374	0.0080	48	c.-28 others(59): Show c.-2885_-2884insACATATATATACATGTATATATATACATATATAT ACATGTATATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(41): Show CTATATATATACATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0340	1	372	0.0027	48	c.111 others(65): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATGTATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar

Search by Variant

Search

Search Results