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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
BMX_chrX_15495807_15561519	15511444	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	216	0.0046	1	c.251 others(8): Show c.251_252insC	p.Lys others(4): Show p.Lys85fs	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	4/19	395/2543	252/2028	84/675		chrX	TogoVar
BMX_chrX_15495807_15561519	15536368	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	216	0.0046	-1	c.116 others(5): Show c.1165delC	p.Arg others(5): Show p.Arg389fs	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	13/19	1308/2543	1165/2028	389/675	INFO_REALIGN_3_PRIME	chrX	TogoVar
BPY2_chrY_22979263_23010465	22992357	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19009.hp1 NA19009.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	1	52	0.0192	1	c.18d others(3): Show c.18dupC	p.Arg others(3): Show p.Arg7fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	351/1206	19/321	7/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22992357	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	52	0.0192	-1	c.18d others(3): Show c.18delC	p.Arg others(3): Show p.Arg7fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	350/1206	18/321	6/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22992368	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19009.hp1 NA19009.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	1	52	0.0192	1	c.27d others(3): Show c.27dupG	p.Thr others(4): Show p.Thr10fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	360/1206	28/321	10/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22997485	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0014 a0004c0003t0001g0014	1	52	0.0192	-1	c.233 others(4): Show c.233delG	p.Gly others(4): Show p.Gly78fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	6/9	565/1206	233/321	78/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BRCA1_chr17_43039295_43130364	43124023	GGACACTC others(24): Show GGACACTCTAAGATTTTCTGCATAGCATTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0002 a0021c0028t0002	a0021c0028t0002g0099 a0021c0028t0002g0099	1	276	0.0036	-31	c.43_ others(36): Show c.43_73delATTAATGCTATGCAGAAAATCTTAGAGTGTC	p.Ile others(4): Show p.Ile15fs	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	2/23	186/7088	43/5592	15/1863		chr17	TogoVar
BRCC3_chrX_155066508_155128077	155120042	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0014 a0000c0002t0014	a0000c0002t0014g0098 a0000c0002t0014g0098	1	254	0.0039	1	c.770 others(4): Show c.770dupC	p.Leu others(5): Show p.Leu258fs	BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding	10/11	791/2769	771/876	257/291	INFO_REALIGN_3_PRIME	chrX	TogoVar
BRD2_chr6_32963594_32986501	32980395	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02109.hp2 HG02145.hp1 HG02572.hp1 others(3): Show HG02109.hp2 HG02145.hp1 HG02572.hp1 NA18998.hp2 NA19001.hp1 NA19067.hp1	a0003 a0003	a0003c0012 a0003c0029 a0003c0030 a0003c0012 a0003c0029 a0003c0030	a0003c0012t0001 a0003c0012t0012 a0003c0029t0002 others(1): Show a0003c0012t0001 a0003c0012t0012 a0003c0029t0002 a0003c0030t0001	a0003c0012t0001g0003 a0003c0012t0001g0007 a0003c0012t0012g0015 others(3): Show a0003c0012t0001g0003 a0003c0012t0001g0007 a0003c0012t0012g0015 a0003c0012t0012g0088 a0003c0029t0002g0004 a0003c0030t0001g0008	6	469	0.0128	1	c.220 others(5): Show c.2203dupG	p.Glu others(5): Show p.Glu735fs	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	12/13	3971/4956	2204/2406	735/801	INFO_REALIGN_3_PRIME	chr6	TogoVar
BRD3OS_chr9_134020481_134036587	134026932	TGGTCCGA others(18): Show TGGTCCGAGACAAAAACAAGCTCGAG	T T	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0022 a0000c0002t0022	a0000c0002t0022g0002 a0000c0002t0022g0002	1	334	0.0030	-25	c.187 others(32): Show c.187_211delGTCCGAGACAAAAACAAGCTCGAGG	p.Val others(4): Show p.Val63fs	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding	3/3	1029/5682	187/255	63/84	INFO_REALIGN_3_PRIME	chr9	TogoVar
BRD4_chr19_15230519_15337539	15238833	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show HG01175.hp2 HG01496.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG03579.hp2 NA18940.hp2 NA18972.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0007 a0003c0006 a0003c0011 others(2): Show a0002c0007 a0003c0006 a0003c0011 a0003c0026 a0008c0033	a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 others(6): Show a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 a0003c0006t0003 a0003c0006t0005 a0003c0011t0058 a0003c0011t0061 a0003c0026t0072 a0008c0033t0073	a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0003c0006t0001g0091 a0003c0006t0003g0171 a0003c0006t0005g0031 a0003c0006t0005g0099 a0003c0006t0005g0117 a0003c0011t0058g0039 a0003c0011t0061g0101 a0003c0026t0072g0181 a0008c0033t0073g0152	12	208	0.0577	1	c.392 others(5): Show c.3929dupC	p.Gln others(6): Show p.Gln1311fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	19/20	4213/7231	3929/4089	1310/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15244475	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01109.hp1 HG01175.hp2 others(16): Show HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03942.hp2 NA18995.hp1 NA19009.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0003 a0002c0007 a0002c0018 others(7): Show a0002c0003 a0002c0007 a0002c0018 a0002c0022 a0002c0023 a0002c0031 a0005c0014 a0005c0019 a0005c0020 a0010c0029	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(14): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0017 a0002c0003t0038 a0002c0007t0003 a0002c0007t0033 a0002c0018t0018 a0002c0022t0049 a0002c0023t0016 a0002c0031t0059 a0005c0014t0002 a0005c0019t0001 a0005c0020t0025 a0010c0029t0010	a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 others(16): Show a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 a0002c0003t0005g0064 a0002c0003t0008g0200 a0002c0003t0008g0205 a0002c0003t0017g0016 a0002c0003t0038g0013 a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0002c0018t0018g0036 a0002c0022t0049g0029 a0002c0023t0016g0177 a0002c0031t0059g0129 a0005c0014t0002g0106 a0005c0019t0001g0076 a0005c0020t0025g0192 a0010c0029t0010g0074	19	208	0.0914	1	c.233 others(5): Show c.2336dupC	p.Pro others(5): Show p.Pro780fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	13/20	2620/7231	2336/4089	779/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15244535	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00639.hp2 HG00741.hp1 others(7): Show HG00140.hp1 HG00639.hp2 HG00741.hp1 HG01243.hp2 HG01952.hp1 HG02109.hp1 HG02895.hp2 HG03654.hp1 HG03942.hp2 HG04204.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0021 a0005c0014 others(2): Show a0004c0005 a0004c0021 a0005c0014 a0005c0019 a0005c0020	a0004c0005t0001 a0004c0005t0006 a0004c0005t0009 others(6): Show a0004c0005t0001 a0004c0005t0006 a0004c0005t0009 a0004c0005t0017 a0004c0005t0045 a0004c0021t0015 a0005c0014t0002 a0005c0019t0001 a0005c0020t0025	a0004c0005t0001g0053 a0004c0005t0006g0150 a0004c0005t0009g0009 others(7): Show a0004c0005t0001g0053 a0004c0005t0006g0150 a0004c0005t0009g0009 a0004c0005t0009g0011 a0004c0005t0017g0025 a0004c0005t0045g0122 a0004c0021t0015g0115 a0005c0014t0002g0106 a0005c0019t0001g0076 a0005c0020t0025g0192	10	208	0.0481	1	c.227 others(5): Show c.2276dupC	p.Pro others(5): Show p.Pro760fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	13/20	2560/7231	2276/4089	759/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15264415	T T	TCATGTCC others(15): Show TCATGTCCATGGGGTGCTTGATG	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0073 a0008c0033t0073	a0008c0033t0073g0152 a0008c0033t0073g0152	1	208	0.0048	22	c.117 others(31): Show c.1179_1200dupCATCAAGCACCCCATGGACATG	p.Ser others(5): Show p.Ser401fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	6/20	1484/7231	1200/4089	400/1362		chr19	TogoVar
BRDT_chr1_91944401_92019421	91977038	TGTAGGTT others(20): Show TGTAGGTTACAAAAGGTGTGAAGAGGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0069 a0012c0016t0002g0069	1	318	0.0031	-27	c.619 others(36): Show c.619-4_641delGTAGGTTACAAAAGGTGTGAAGAGGAA	p.Val others(5): Show p.Val207fs	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	6/19		619/2844	207/947		chr1	TogoVar
BRI3_chr7_98276686_98296545	98281908	CGCCGCCG others(27): Show CGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0002 a0000c0006t0002	a0000c0006t0002g0050 a0000c0006t0002g0050	1	414	0.0024	-34	c.114 others(43): Show c.114_142+5delGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	p.Pro others(4): Show p.Pro39fs	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/3	224/790	114/378	38/125		chr7	TogoVar
BRSK1_chr19_55278997_55317562	55304073	CCACGGGT others(7): Show CCACGGGTCTGTCCT	C C	frameshift_variant frameshift_variant	HIGH	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0111 a0003c0008t0001g0111	1	338	0.0030	-14	c.131 others(23): Show c.1312_1325delACGGGTCTGTCCTC	p.Thr others(5): Show p.Thr438fs	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	13/19	1758/3277	1312/2337	438/778	INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1456402	AAGGCCAC others(18): Show AAGGCCACGGGGGGGCCAGCCGTGTT	A A	frameshift_variant frameshift_variant	HIGH	NA18953.hp2 NA18953.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0065 a0007c0013t0004g0065	1	360	0.0028	-25	c.172 others(34): Show c.1724_1748delAGGCCACGGGGGGGCCAGCCGTGTT	p.Lys others(5): Show p.Lys575fs	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	17/20	2075/4528	1724/2211	575/736		chr11	TogoVar
BRWD3_chrX_80664503_80814877	80735989	T T	TA TA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0247 a0003c0010t0003g0247	1	265	0.0038	1	c.912 others(4): Show c.912dupT	p.Arg others(5): Show p.Arg305fs	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	9/41	1318/12921	912/5409	304/1802		chrX	TogoVar
BSND_chr1_54993933_55022172	55008213	GCCCCCTG others(4): Show GCCCCCTGGCCT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0091 a0005c0007t0091	a0005c0007t0091g0029 a0005c0007t0091g0029	1	448	0.0022	-11	c.549 others(18): Show c.549_559delCCCCCTGGCCT	p.Pro others(5): Show p.Pro184fs	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	4/4	803/9761	549/963	183/320		chr1	TogoVar
BTBD2_chr19_1980448_2020714	2015545	GGCGGCGG others(4): Show GGCGGCGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02602.hp1 HG02602.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0002 a0014c0024t0002	a0014c0024t0002g0015 a0014c0024t0002g0015	1	364	0.0028	-11	c.148 others(18): Show c.148_158delGCCGCCGCCGC	p.Ala others(4): Show p.Ala50fs	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	169/2629	148/1578	50/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015548	GGCGGCGG others(4): Show GGCGGCGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp2 NA19087.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0018 a0015c0022t0018	a0015c0022t0018g0013 a0015c0022t0018g0013	1	364	0.0028	-11	c.145 others(18): Show c.145_155delGCCGCCGCCGC	p.Ala others(4): Show p.Ala49fs	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	166/2629	145/1578	49/525		chr19	TogoVar
BTBD3_chr20_11912893_11931595	11919747	C C	CCATGCGA others(13): Show CCATGCGATGTTTTACGGAGA	frameshift_variant frameshift_variant	HIGH	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0001 a0002c0010t0007g0001	1	444	0.0023	20	c.448 others(27): Show c.448_467dupCATGCGATGTTTTACGGAGA	p.Glu others(5): Show p.Glu156fs	BTBD3	ENSG00000132640.15	transcript	ENST00000378226.7	protein_coding	3/4	851/4881	468/1569	156/522	INFO_REALIGN_3_PRIME	chr20	TogoVar
BTK_chrX_101344450_101391191	101349949	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0223 a0002c0006t0002g0223	1	303	0.0033	1	c.191 others(5): Show c.1915dupG	p.Asp others(5): Show p.Asp639fs	BTK	ENSG00000010671.18	transcript	ENST00000308731.8	protein_coding	19/19	2075/2575	1915/1980	639/659		chrX	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0011	a0003c0004 a0003c0008 a0003c0021 others(3): Show a0003c0004 a0003c0008 a0003c0021 a0006c0007 a0009c0012 a0011c0020	a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 a0006c0007t0001 a0009c0012t0002 a0011c0020t0002	a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 others(35): Show a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0189 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0192 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0002g0195 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0003c0021t0002g0198 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127 a0009c0012t0002g0069 a0011c0020t0002g0188	69	453	0.1523	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
BUB1B_chr15_40156069_40226123	40170479	A A	AAGAACAA others(57): Show AAGAACAAAAGTACATGTTCAATTTAAAATGTGTTCTTATCTTTTTCCTC CCATTTAGGTATATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	352	0.0028	64	c.240 others(74): Show c.240-55_248dupAACAAAAGTACATGTTCAATTTAAAATGTGTTCTT ATCTTTTTCCTCCCATTTAGGTATATCAG	p.Ser others(4): Show p.Ser83fs	BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	4/23	401/3669	249/3153	83/1050	INFO_REALIGN_3_PRIME	chr15	TogoVar
BUD13_chr11_116743173_116777987	116763184	G G	GCCCCCCC others(40): Show GCCCCCCCCCCCCCCCCCCCCCCCCCACCCAACCCCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	NA18966.hp2 NA18966.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0133 a0010c0017t0002g0133	1	440	0.0023	47	c.404 others(54): Show c.404_405insGGGGGGGGGGGGGGGGTTGGGTGGGGGGGGGGGGGGGG GGGGGGGGG	p.Pro others(5): Show p.Pro136fs	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	4/10	427/2192	404/1860	135/619		chr11	TogoVar
C10orf95_chr10_102444837_102456543	102450822	GCGGCGCA others(4): Show GCGGCGCAGGGC	G G	frameshift_variant frameshift_variant	HIGH	HG03579.hp1 HG03579.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0002 a0000c0004t0002	a0000c0004t0002g0014 a0000c0004t0002g0014	1	452	0.0022	-11	c.261 others(18): Show c.261_271delGCCCTGCGCCG	p.Pro others(4): Show p.Pro88fs	C10orf95	ENSG00000120055.7	transcript	ENST00000625129.1	protein_coding	2/2	483/1469	261/642	87/213		chr10	TogoVar
C11orf16_chr11_8915076_8937947	8921341	CAT CAT	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01943.hp1 HG02109.hp1 others(9): Show HG01109.hp2 HG01943.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2	a0000 a0000	a0000c0007 a0000c0011 a0000c0019 a0000c0007 a0000c0011 a0000c0019	a0000c0007t0001 a0000c0011t0001 a0000c0019t0001 a0000c0007t0001 a0000c0011t0001 a0000c0019t0001	a0000c0007t0001g0031 a0000c0007t0001g0036 a0000c0007t0001g0067 others(6): Show a0000c0007t0001g0031 a0000c0007t0001g0036 a0000c0007t0001g0067 a0000c0007t0001g0069 a0000c0007t0001g0070 a0000c0007t0001g0080 a0000c0007t0001g0100 a0000c0011t0001g0032 a0000c0019t0001g0058	12	410	0.0293	-2	c.137 others(11): Show c.1377_1378delAT	p.Ile others(5): Show p.Ile459fs	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding	6/7	1443/1866	1377/1404	459/467		chr11	TogoVar
C11orf86_chr11_66970304_66982009	66975627	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01358.hp2 HG01433.hp2 others(8): Show HG00642.hp2 HG01358.hp2 HG01433.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG03098.hp1 HG04204.hp2 NA18961.hp2 NA19067.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0001 a0000c0002t0001g0002	11	332	0.0331	1	c.267 others(4): Show c.267dupG	p.Tyr others(4): Show p.Tyr90fs	C11orf86	ENSG00000173237.5	transcript	ENST00000683896.1	protein_coding	1/2	327/1168	268/351	90/116	INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf42_chr12_103296955_103500968	103478395	TCCCTTTG others(71): Show TCCCTTTGTTTCATACATATCACTGTAGACATTAATTTGACAAGTTCAAC TCCCTATAAACAAAGAATGGAGAAAGAAG	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG03490.hp1 HG03490.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0101 a0007c0008t0008g0101	1	262	0.0038	-78	c.-21 others(87): Show c.-21-26_31delCTTCTTTCTCCATTCTTTGTTTATAGGGAGTTGAAC TTGTCAAATTAATGTCTACAGTGATATGTATGAAACAAAGGG	p.Met others(3): Show p.Met1fs	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/6	119/1324	1/1083	1/360		chr12	TogoVar
C12orf60_chr12_14798670_14829415	14823061	TACTCAAA others(21): Show TACTCAAATCCTTTTGATGGCTGTGAAAA	T T	frameshift_variant frameshift_variant	HIGH	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0001 a0005c0007t0001g0001	1	388	0.0026	-28	c.129 others(35): Show c.129_156delTCAAATCCTTTTGATGGCTGTGAAAAAC	p.Gln others(4): Show p.Gln44fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	235/1586	129/738	43/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf60_chr12_14798670_14829415	14823483	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01891.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	68	388	0.1753	-2	c.550 others(9): Show c.550_551delAT	p.Met others(5): Show p.Met184fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	656/1586	550/738	184/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C16orf54_chr16_29737463_29750990	29744641	GTCAGCAG others(12): Show GTCAGCAGGGGGACCGCAGA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0024 a0003c0004t0024	a0003c0004t0024g0027 a0003c0004t0024g0027	1	310	0.0032	-19	c.292 others(26): Show c.292_310delTCTGCGGTCCCCCTGCTGA	p.Ser others(4): Show p.Ser98fs	C16orf54	ENSG00000185905.4	transcript	ENST00000329410.4	protein_coding	2/2	390/2569	292/675	98/224		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4575703	GGGACTTA others(10): Show GGGACTTAGGTGTCCTGC	G G	frameshift_variant frameshift_variant	HIGH	NA18981.hp1 NA18981.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0003 a0017c0040t0003	a0017c0040t0003g0022 a0017c0040t0003g0022	1	278	0.0036	-17	c.122 others(26): Show c.1226_1242delACTTAGGTGTCCTGCGG	p.Asp others(5): Show p.Asp409fs	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	1376/4017	1226/3426	409/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C16orf96_chr16_4551340_4605758	4592333	TCCTGTGA others(4): Show TCCTGTGACCGG	T T	frameshift_variant frameshift_variant	HIGH	NA18906.hp1 NA18906.hp1	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0004 a0031c0042t0004	a0031c0042t0004g0224 a0031c0042t0004g0224	1	278	0.0036	-11	c.274 others(20): Show c.2747_2757delACCGGCCTGTG	p.Asp others(5): Show p.Asp916fs	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	11/16	2897/4017	2747/3426	916/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C17orf107_chr17_4894536_4907934	4900042	AACCGAAG AACCGAAG	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show HG00408.hp1 HG00558.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18972.hp2 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19065.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0001 a0003c0003t0008g0001 a0003c0003t0001g0001 a0003c0003t0008g0001	14	442	0.0317	-7	c.175 others(14): Show c.175_181delCCGAAGA	p.Pro others(4): Show p.Pro59fs	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	2/3	402/3201	175/573	59/190	INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf50_chr17_35755887_35770079	35764504	CGA CGA	C C	frameshift_variant frameshift_variant	HIGH	NA18951.hp2 NA18964.hp1 NA18980.hp1 others(3): Show NA18951.hp2 NA18964.hp1 NA18980.hp1 NA19068.hp1 NA19072.hp2 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0116 others(1): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0116 a0003c0003t0001g0117	6	408	0.0147	-2	c.413 others(9): Show c.413_414delAG	p.Glu others(5): Show p.Glu138fs	C17orf50	ENSG00000270806.2	transcript	ENST00000605587.2	protein_coding	3/3	468/1041	413/525	138/174	INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf80_chr17_73227433_73253959	73235569	G G	GATGATAG others(22): Show GATGATAGGACCAACCATACCTACTGATCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0127 a0010c0019t0001g0127	1	384	0.0026	29	c.89_ others(35): Show c.89_117dupTGATAGGACCAACCATACCTACTGATCAA	p.Lys others(4): Show p.Lys40fs	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	3/6	288/3618	118/1830	40/609	INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1242514	GGCGGCAG others(36): Show GGCGGCAGCTCCTCGCCAGCCCCCCTGGGCGCCCTCACGTGCCC	G G	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG04115.hp1 HG04115.hp1	a0000 a0000	a0000c0022 a0000c0022	a0000c0022t0005 a0000c0022t0005	a0000c0022t0005g0034 a0000c0022t0005g0034	1	328	0.0031	-43	c.900 others(50): Show c.900_*33delGGGCACGTGAGGGCGCCCAGGGGGGCTGGCGAGGAGCT GCCGC	p.Leu others(5): Show p.Leu300fs	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	8/8	974/1036	900/909	300/302		chr1	TogoVar
C1QTNF4_chr11_47584667_47599411	47590762	GGGCCCAG others(19): Show GGGCCCAGCAGGCCGCTGGGCCCAGCA	G G	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00423.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	408	0.0025	-26	c.23_ others(31): Show c.23_48delTGCTGGGCCCAGCGGCCTGCTGGGCC	p.Leu others(3): Show p.Leu8fs	C1QTNF4	ENSG00000172247.4	transcript	ENST00000302514.4	protein_coding	2/2	317/1413	23/990	8/329		chr11	TogoVar
C1QTNF5_chr11_119333942_119345883	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0013 a0003c0004t0007g0013	1	388	0.0026	-131	c.-9_ others(6): Show c.-9_122del	p.Met others(3): Show p.Met1fs	C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding	2/3	354/1353	1/732	1/243		chr11	TogoVar
C1QTNF8_chr16_1083226_1101244	1093978	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show HG01109.hp2 HG01243.hp2 HG02647.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1 NA19240.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0009 a0000c0002t0009	a0000c0002t0009g0008 a0000c0002t0009g0159 a0000c0002t0009g0008 a0000c0002t0009g0159	9	396	0.0227	1	c.281 others(4): Show c.281dupG	p.Leu others(4): Show p.Leu95fs	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/5	555/3406	281/759	94/252		chr16	TogoVar
C1orf167_chr1_11757193_11794585	11767056	GAC GAC	G G	frameshift_variant frameshift_variant	HIGH	HG02258.hp1 HG02280.hp1 HG03516.hp1 others(1): Show HG02258.hp1 HG02280.hp1 HG03516.hp1 HG03579.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0014 a0013c0015t0001g0116 a0013c0015t0001g0117 others(1): Show a0013c0015t0001g0014 a0013c0015t0001g0116 a0013c0015t0001g0117 a0013c0015t0001g0136	4	350	0.0114	-2	c.127 others(11): Show c.1274_1275delCA	p.Thr others(5): Show p.Thr425fs	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	3/21	1457/4672	1274/4350	425/1449	INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf204_chr20_64031182_64044001	64037971	G G	GGGGACCG others(22): Show GGGGACCGCGCCAAGCCGCGCCTATTCCCC	frameshift_variant frameshift_variant	HIGH	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0002 a0003c0004t0002g0002	1	392	0.0026	29	c.51_ others(34): Show c.51_79dupGACCGCGCCAAGCCGCGCCTATTCCCCGG	p.Ala others(4): Show p.Ala27fs	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding	2/4	222/954	80/570	27/189	INFO_REALIGN_3_PRIME	chr20	TogoVar
C2CD4C_chr19_400445_414147	407718	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00735.hp1 HG01099.hp1 others(10): Show HG00642.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01952.hp2 HG01993.hp2 HG02258.hp1 NA19060.hp2 NA19063.hp2 NA19081.hp1 NA19090.hp1	a0000 a0002 a0000 a0002	a0000c0003 a0002c0017 a0000c0003 a0002c0017	a0000c0003t0001 a0000c0003t0005 a0000c0003t0008 others(6): Show a0000c0003t0001 a0000c0003t0005 a0000c0003t0008 a0000c0003t0013 a0000c0003t0021 a0000c0003t0023 a0000c0003t0036 a0000c0003t0095 a0002c0017t0005	a0000c0003t0001g0023 a0000c0003t0005g0043 a0000c0003t0008g0115 others(7): Show a0000c0003t0001g0023 a0000c0003t0005g0043 a0000c0003t0008g0115 a0000c0003t0008g0167 a0000c0003t0013g0118 a0000c0003t0021g0120 a0000c0003t0023g0117 a0000c0003t0036g0119 a0000c0003t0095g0116 a0002c0017t0005g0170	13	322	0.0404	1	c.643 others(4): Show c.643dupG	p.Glu others(5): Show p.Glu215fs	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding	2/2	825/3099	643/1266	215/421		chr19	TogoVar
C2CD4C_chr19_400445_414147	408312	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01175.hp1 HG01884.hp2 others(5): Show HG00639.hp1 HG01175.hp1 HG01884.hp2 HG02647.hp2 NA18944.hp1 NA18967.hp2 NA19063.hp2 NA19067.hp2	a0002 a0002	a0002c0005 a0002c0017 a0002c0018 a0002c0005 a0002c0017 a0002c0018	a0002c0005t0001 a0002c0005t0006 a0002c0005t0023 others(5): Show a0002c0005t0001 a0002c0005t0006 a0002c0005t0023 a0002c0005t0035 a0002c0005t0057 a0002c0005t0073 a0002c0017t0005 a0002c0018t0007	a0002c0005t0001g0147 a0002c0005t0006g0169 a0002c0005t0023g0145 others(5): Show a0002c0005t0001g0147 a0002c0005t0006g0169 a0002c0005t0023g0145 a0002c0005t0035g0146 a0002c0005t0057g0144 a0002c0005t0073g0175 a0002c0017t0005g0170 a0002c0018t0007g0148	8	322	0.0248	1	c.49d others(3): Show c.49dupG	p.Glu others(4): Show p.Glu17fs	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding	2/2	231/3099	49/1266	17/421		chr19	TogoVar
C2orf42_chr2_70144885_70196019	70165549	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show HG00597.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp2 HG01496.hp2 HG02080.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp1 NA19010.hp1 NA19030.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0007 a0005c0009 a0003c0003 a0003c0007 a0005c0009	a0003c0003t0001 a0003c0007t0001 a0005c0009t0001 a0003c0003t0001 a0003c0007t0001 a0005c0009t0001	a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 others(12): Show a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 a0003c0003t0001g0148 a0003c0003t0001g0160 a0003c0003t0001g0200 a0003c0003t0001g0203 a0003c0003t0001g0216 a0003c0003t0001g0261 a0003c0003t0001g0289 a0003c0003t0001g0294 a0003c0003t0001g0316 a0003c0007t0001g0187 a0003c0007t0001g0226 a0005c0009t0001g0035	15	346	0.0434	1	c.123 others(5): Show c.1230dupA	p.Arg others(5): Show p.Arg411fs	C2orf42	ENSG00000115998.8	transcript	ENST00000264434.7	protein_coding	7/10	1558/2524	1230/1725	410/574		chr2	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0040 a0001c0001t0010g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	380	0.2026	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf73_chr2_54325884_54366581	54360200	CAG CAG	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01884.hp2 HG02451.hp2 HG02965.hp2 others(2): Show HG01884.hp2 HG02451.hp2 HG02965.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0022 a0001c0001t0001g0036	5	414	0.0121	-2	c.506 others(9): Show c.506_507delGA	p.Arg others(5): Show p.Arg169fs	C2orf73	ENSG00000177994.16	transcript	ENST00000398634.7	protein_coding	5/5	598/1975	506/864	169/287	INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 5828 hits)