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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
C2orf92_chr2_97664713_97708066	97701148	ATTTAGAT others(31): Show ATTTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0172 a0009c0011t0002g0172	1	310	0.0032	-38	c.515 others(47): Show c.515-3_549delTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC TT	p.Asp others(5): Show p.Asp172fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	7/8		515/798	172/265	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97702739	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show HG01243.hp1 HG01358.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0010 a0004c0004 a0006c0010	a0004c0004t0001 a0006c0010t0001 a0004c0004t0001 a0006c0010t0001	a0004c0004t0001g0018 a0004c0004t0001g0080 a0004c0004t0001g0081 others(11): Show a0004c0004t0001g0018 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0006c0010t0001g0079	15	310	0.0484	-1	c.743 others(4): Show c.743delA	p.Asn others(5): Show p.Asn248fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	8/8	819/1139	743/798	248/265	INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf49_chr3_63814299_63853636	63831135	C C	CACACT CACACT	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show HG00621.hp2 HG00673.hp2 HG02027.hp2 HG02132.hp1 HG02165.hp2 NA18973.hp2 NA18986.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19087.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0027 a0003c0003t0001g0052 others(14): Show a0003c0003t0001g0004 a0003c0003t0001g0027 a0003c0003t0001g0052 a0003c0003t0001g0102 a0003c0003t0001g0104 a0003c0003t0001g0119 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0167 a0003c0003t0001g0204 a0003c0003t0001g0222 a0003c0003t0001g0223	20	388	0.0516	5	c.597 others(12): Show c.597_601dupACACT	p.Phe others(5): Show p.Phe201fs	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	4/7	775/1355	602/879	201/292	INFO_REALIGN_3_PRIME	chr3	TogoVar
C8orf34_chr8_68325955_68824023	68331068	TCCGGCTC others(7): Show TCCGGCTCTCAGCGC	T T	frameshift_variant frameshift_variant	HIGH	HG02109.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG02109.hp1 HG02717.hp2 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0008 a0003c0006 a0003c0008	a0003c0006t0001 a0003c0006t0004 a0003c0008t0001 a0003c0006t0001 a0003c0006t0004 a0003c0008t0001	a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 others(1): Show a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 a0003c0008t0001g0123	4	128	0.0313	-14	c.59_ others(19): Show c.59_72delGGCTCTCAGCGCCC	p.Arg others(4): Show p.Arg20fs	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/14	117/2452	59/1617	20/538	INFO_REALIGN_3_PRIME	chr8	TogoVar
CAB39L_chr13_49303650_49449064	49331951	A A	AAAGACAT others(27): Show AAAGACATGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0244 a0002c0003t0002g0244	1	324	0.0031	34	c.829 others(41): Show c.829_830insCCCCCCCCCCCCCCCCCCCCCCCCCCCATGTCTT	p.Phe others(5): Show p.Phe277fs	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/11	1153/3502	829/1014	277/337		chr13	TogoVar
CABIN1_chr22_24006304_24183628	24113620	ACTTCTTT others(6): Show ACTTCTTTAATGAG	A A	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0174 a0011c0021t0001g0174	1	268	0.0037	-13	c.417 others(22): Show c.4174_4186delTTCTTTAATGAGC	p.Phe others(6): Show p.Phe1392fs	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	27/37	4312/7233	4174/6663	1392/2220	INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES2_chr20_62383634_62412285	62406982	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01952.hp1 HG02155.hp1 others(6): Show HG00735.hp2 HG01952.hp1 HG02155.hp1 HG02486.hp1 HG02738.hp1 HG03098.hp1 NA18987.hp1 NA19062.hp1 NA19062.hp2	a0005 a0011 a0005 a0011	a0005c0009 a0005c0012 a0005c0013 others(2): Show a0005c0009 a0005c0012 a0005c0013 a0005c0014 a0011c0018	a0005c0009t0001 a0005c0009t0023 a0005c0012t0002 others(3): Show a0005c0009t0001 a0005c0009t0023 a0005c0012t0002 a0005c0013t0029 a0005c0014t0015 a0011c0018t0002	a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 others(6): Show a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 a0005c0009t0001g0059 a0005c0009t0023g0060 a0005c0012t0002g0061 a0005c0013t0029g0056 a0005c0014t0015g0062 a0011c0018t0002g0223	9	400	0.0225	1	c.294 others(4): Show c.294dupC	p.Ala others(4): Show p.Ala99fs	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/10	303/3783	294/1437	98/478		chr20	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0015 a0003c0033 a0003c0012 a0003c0015 a0003c0033	a0003c0012t0001 a0003c0015t0001 a0003c0033t0001 a0003c0012t0001 a0003c0015t0001 a0003c0033t0001	a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 others(5): Show a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 a0003c0015t0001g0155 a0003c0015t0001g0156 a0003c0015t0001g0157 a0003c0015t0001g0163 a0003c0033t0001g0127	10	408	0.0245	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379		chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13207516	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp1 HG02056.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG03471.hp2 HG03669.hp1 HG03942.hp2 NA18946.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1	a0009 a0010 a0014 others(5): Show a0009 a0010 a0014 a0019 a0025 a0027 a0029 a0040	a0009c0014 a0009c0051 a0009c0076 others(13): Show a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0014c0048 a0014c0111 a0014c0115 a0019c0079 a0019c0109 a0025c0041 a0027c0064 a0029c0063 a0040c0069	a0009c0014t0002 a0009c0014t0046 a0009c0051t0002 others(14): Show a0009c0014t0002 a0009c0014t0046 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0083t0014 a0010c0107t0021 a0010c0128t0010 a0014c0048t0001 a0014c0111t0004 a0014c0115t0004 a0019c0079t0007 a0019c0109t0005 a0025c0041t0004 a0027c0064t0004 a0029c0063t0002 a0040c0069t0014	a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0046g0176 others(15): Show a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0046g0176 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0083t0014g0159 a0010c0107t0021g0004 a0010c0128t0010g0139 a0014c0048t0001g0146 a0014c0111t0004g0210 a0014c0115t0004g0066 a0019c0079t0007g0067 a0019c0109t0005g0198 a0025c0041t0004g0107 a0027c0064t0004g0101 a0029c0063t0002g0196 a0040c0069t0014g0040	18	218	0.0826	1	c.731 others(5): Show c.7317dupC	p.Val others(6): Show p.Val2440fs	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7572/8647	7317/7521	2439/2506		chr19	TogoVar
CACNA1F_chrX_49200063_49238340	49218463	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0078 a0014c0016t0001g0078	1	290	0.0035	1	c.291 others(10): Show c.2919_2920insT	p.Gly others(5): Show p.Gly974fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	24/48	2950/6006	2919/5901	973/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49228364	C C	CCG CCG	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0114 a0006c0026t0001g0114	1	290	0.0035	2	c.900 others(9): Show c.900_901insCG	p.Gly others(5): Show p.Gly301fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	7/48	931/6006	900/5901	300/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49228370	A A	ACT ACT	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0114 a0006c0026t0001g0114	1	290	0.0035	2	c.893 others(9): Show c.893_894dupAG	p.Cys others(5): Show p.Cys299fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	7/48	925/6006	894/5901	298/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49228378	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0114 a0006c0026t0001g0114	1	290	0.0035	1	c.886 others(4): Show c.886dupC	p.Gln others(5): Show p.Gln296fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	7/48	917/6006	886/5901	296/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49230546	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0059 a0005c0009t0001g0059	1	290	0.0035	-1	c.584 others(4): Show c.584delG	p.Gly others(5): Show p.Gly195fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	5/48	615/6006	584/5901	195/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49231220	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0001	a0018c0028t0001g0045 a0018c0028t0001g0045	1	290	0.0035	-1	c.362 others(4): Show c.362delA	p.Asn others(5): Show p.Asn121fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	3/48	393/6006	362/5901	121/1966		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49231854	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19001.hp1 NA19001.hp1	a0019 a0019	a0019c0008 a0019c0008	a0019c0008t0001 a0019c0008t0001	a0019c0008t0001g0056 a0019c0008t0001g0056	1	290	0.0035	-1	c.98d others(3): Show c.98delC	p.Pro others(4): Show p.Pro33fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	2/48	129/6006	98/5901	33/1966		chrX	TogoVar
CACNA1I_chr22_39565753_39694735	39679394	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01099.hp1 HG01255.hp2 others(8): Show HG00642.hp2 HG01099.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG02071.hp2 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG04184.hp2	a0006 a0010 a0015 a0006 a0010 a0015	a0006c0012 a0006c0015 a0010c0028 others(2): Show a0006c0012 a0006c0015 a0010c0028 a0010c0041 a0015c0043	a0006c0012t0003 a0006c0012t0004 a0006c0012t0005 others(6): Show a0006c0012t0003 a0006c0012t0004 a0006c0012t0005 a0006c0012t0008 a0006c0015t0002 a0010c0028t0004 a0010c0028t0013 a0010c0041t0001 a0015c0043t0007	a0006c0012t0003g0013 a0006c0012t0004g0031 a0006c0012t0005g0120 others(8): Show a0006c0012t0003g0013 a0006c0012t0004g0031 a0006c0012t0005g0120 a0006c0012t0008g0143 a0006c0015t0002g0188 a0006c0015t0002g0221 a0006c0015t0002g0225 a0010c0028t0004g0035 a0010c0028t0013g0052 a0010c0041t0001g0037 a0015c0043t0007g0149	11	236	0.0466	1	c.534 others(5): Show c.5348dupG	p.Asp others(6): Show p.Asp1784fs	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	32/37	5349/10002	5349/6672	1783/2223	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201112283	TGGCTTCT others(7): Show TGGCTTCTTGGGCTG	T T	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0001 a0036c0040t0001	a0036c0040t0001g0008 a0036c0040t0001g0008	1	314	0.0032	-14	c.43_ others(19): Show c.43_56delCAGCCCAAGAAGCC	p.Gln others(4): Show p.Gln15fs	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/44	143/6028	43/5622	15/1873		chr1	TogoVar
CACNB2_chr10_18135424_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	200	0.0050	91	c.105 others(103): Show c.1055-84_1061dupCACCTTTCTGTTGAAGAAACAGTATACCATTTT ACTTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACA GCGGAAGT	p.Gln others(5): Show p.Gln355fs	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	11/14	1375/6129	1062/1983	354/660	INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	302	0.0033	91	c.893 others(101): Show c.893-84_899dupCACCTTTCTGTTGAAGAAACAGTATACCATTTTAC TTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGC GGAAGT	p.Gln others(5): Show p.Gln301fs	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	10/13	1118/5872	900/1821	300/606	INFO_REALIGN_3_PRIME	chr10	TogoVar
CALCOCO2_chr17_48826035_48870245	48852915	T T	TTTTTGTG others(13): Show TTTTTGTGCAGAGGAAGGACC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	328	0.0031	20	c.826 others(30): Show c.826-10_835dupTTTTGTGCAGAGGAAGGACC	p.Gln others(5): Show p.Gln279fs	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/13	890/3635	836/1341	279/446	INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44325325	CCGGCCCA others(71): Show CCGGCCCAGCCCGCGCGCGCCGCTGCTCTTACTTGCCAATATCCTCGTAG AGCTGGTACTCGTCGGTGAAGCGGGTGCA	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0009 a0005c0016t0009	a0005c0016t0009g0006 a0005c0016t0009g0006	1	242	0.0041	-78	c.19_ others(86): Show c.19_65+31delTGCACCCGCTTCACCGACGAGTACCAGCTCTACGAGG ATATTGGCAAGTAAGAGCAGCGGCGCGCGCGGGCTGGGCCG	p.Cys others(3): Show p.Cys7fs	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/24		19/2001	7/666		chr7	TogoVar
CAPN11_chr6_44153820_44189401	44172317	T T	TGGCTGCC TGGCTGCC	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show HG00323.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01934.hp1 HG02055.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0005 a0018 a0005 a0018	a0005c0006 a0005c0010 a0018c0021 a0005c0006 a0005c0010 a0018c0021	a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 others(3): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0010t0001 a0005c0010t0005 a0018c0021t0002	a0005c0006t0001g0209 a0005c0006t0001g0387 a0005c0006t0002g0210 others(18): Show a0005c0006t0001g0209 a0005c0006t0001g0387 a0005c0006t0002g0210 a0005c0006t0002g0211 a0005c0006t0002g0212 a0005c0006t0002g0224 a0005c0006t0002g0225 a0005c0006t0002g0288 a0005c0006t0002g0307 a0005c0006t0002g0429 a0005c0006t0002g0430 a0005c0006t0002g0431 a0005c0006t0003g0274 a0005c0006t0003g0294 a0005c0010t0001g0115 a0005c0010t0001g0127 a0005c0010t0001g0226 a0005c0010t0005g0038 a0005c0010t0005g0139 a0005c0010t0005g0227 a0018c0021t0002g0372	21	460	0.0457	7	c.426 others(14): Show c.426_432dupGGCTGCC	p.Ile others(5): Show p.Ile145fs	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	5/23	462/2718	433/2220	145/739	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38734364	TCTGGGGG others(18): Show TCTGGGGGTGGAGGTATGGGCCCTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03490.hp2 HG03490.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0148 a0020c0022t0001g0148	1	342	0.0029	-25	c.174 others(34): Show c.1745_1769delCCAGGGCCCATACCTCCACCCCCAG	p.Ala others(5): Show p.Ala582fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	16/21	2078/3129	1745/2160	582/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736154	AGCCTCGT others(51): Show AGCCTCGTCGCCGGCGTGGGCGGTGCTCGGCACCACCAGGTAGTGGCCTG GACGCAGGC	A A	frameshift_variant frameshift_variant	HIGH	HG01346.hp1 HG01346.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0002 a0022c0035t0002	a0022c0035t0002g0206 a0022c0035t0002g0206	1	342	0.0029	-58	c.148 others(67): Show c.1481_1538delGCCTGCGTCCAGGCCACTACCTGGTGGTGCCGAGCA CCGCCCACGCCGGCGACGAGGC	p.Cys others(5): Show p.Cys494fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/21	1847/3129	1481/2160	494/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38737261	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG02056.hp2 HG02145.hp2 others(12): Show HG01099.hp1 HG02056.hp2 HG02145.hp2 HG02523.hp1 HG03098.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG04184.hp2 NA18987.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19083.hp1 NA19090.hp1	a0004 a0024 a0025 a0004 a0024 a0025	a0004c0008 a0004c0010 a0004c0027 others(3): Show a0004c0008 a0004c0010 a0004c0027 a0004c0037 a0024c0018 a0025c0017	a0004c0008t0001 a0004c0008t0003 a0004c0008t0005 others(6): Show a0004c0008t0001 a0004c0008t0003 a0004c0008t0005 a0004c0008t0008 a0004c0010t0002 a0004c0027t0001 a0004c0037t0002 a0024c0018t0004 a0025c0017t0003	a0004c0008t0001g0135 a0004c0008t0001g0146 a0004c0008t0001g0147 others(12): Show a0004c0008t0001g0135 a0004c0008t0001g0146 a0004c0008t0001g0147 a0004c0008t0001g0151 a0004c0008t0003g0282 a0004c0008t0005g0288 a0004c0008t0008g0258 a0004c0010t0002g0210 a0004c0010t0002g0211 a0004c0010t0002g0219 a0004c0010t0002g0220 a0004c0027t0001g0094 a0004c0037t0002g0226 a0024c0018t0004g0039 a0025c0017t0003g0274	15	342	0.0439	1	c.125 others(5): Show c.1256dupG	p.Arg others(5): Show p.Arg420fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/21	1565/3129	1256/2160	419/719		chr19	TogoVar
CAPN15_chr16_522712_559636	552143	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01928.hp1 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02970.hp2 HG03098.hp2 HG03688.hp1 NA18954.hp1 NA18955.hp1 NA18966.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19077.hp2 NA19091.hp2	a0003 a0005 a0015 others(5): Show a0003 a0005 a0015 a0016 a0017 a0024 a0025 a0026	a0003c0012 a0003c0014 a0003c0047 others(12): Show a0003c0012 a0003c0014 a0003c0047 a0003c0048 a0003c0049 a0003c0059 a0005c0015 a0005c0016 a0005c0069 a0015c0036 a0016c0034 a0017c0038 a0024c0030 a0025c0076 a0026c0079	a0003c0012t0001 a0003c0012t0002 a0003c0014t0001 others(18): Show a0003c0012t0001 a0003c0012t0002 a0003c0014t0001 a0003c0014t0002 a0003c0047t0001 a0003c0048t0001 a0003c0049t0002 a0003c0059t0002 a0005c0015t0001 a0005c0015t0002 a0005c0015t0004 a0005c0016t0001 a0005c0016t0002 a0005c0016t0003 a0005c0069t0001 a0015c0036t0001 a0016c0034t0001 a0017c0038t0001 a0024c0030t0002 a0025c0076t0003 a0026c0079t0002	a0003c0012t0001g0261 a0003c0012t0002g0061 a0003c0012t0002g0260 others(21): Show a0003c0012t0001g0261 a0003c0012t0002g0061 a0003c0012t0002g0260 a0003c0012t0002g0267 a0003c0014t0001g0308 a0003c0014t0001g0320 a0003c0014t0002g0102 a0003c0047t0001g0373 a0003c0048t0001g0226 a0003c0049t0002g0383 a0003c0059t0002g0065 a0005c0015t0001g0019 a0005c0015t0002g0155 a0005c0015t0004g0253 a0005c0016t0001g0202 a0005c0016t0002g0223 a0005c0016t0003g0121 a0005c0069t0001g0205 a0015c0036t0001g0392 a0016c0034t0001g0399 a0017c0038t0001g0035 a0024c0030t0002g0055 a0025c0076t0003g0288 a0026c0079t0002g0101	24	410	0.0585	1	c.244 others(5): Show c.2443dupG	p.Val others(5): Show p.Val815fs	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	10/14	2951/4888	2444/3261	815/1086	INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN6_chrX_111240099_111275483	111253173	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0097 a0004c0012t0001g0097	1	242	0.0041	-1	c.340 others(4): Show c.340delA	p.Thr others(5): Show p.Thr114fs	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	4/13	468/3532	340/1926	114/641		chrX	TogoVar
CAPN6_chrX_111240099_111275483	111254354	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0097 a0004c0012t0001g0097	1	242	0.0041	1	c.214 others(4): Show c.214dupC	p.Gln others(4): Show p.Gln72fs	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	3/13	342/3532	214/1926	72/641		chrX	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6		305/552	102/183		chr9	TogoVar
CARD6_chr5_40836367_40860354	40841469	CTT CTT	C C	frameshift_variant frameshift_variant	HIGH	HG01074.hp2 HG01081.hp1 HG01256.hp1 others(2): Show HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0004 a0005c0006t0002g0018 a0005c0006t0002g0104 a0005c0006t0002g0004 a0005c0006t0002g0018 a0005c0006t0002g0104	5	440	0.0114	-2	c.88_ others(7): Show c.88_89delTT	p.Leu others(4): Show p.Leu30fs	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	1/3	104/4038	88/3114	30/1037		chr5	TogoVar
CARD8_chr19_48203086_48260912	48231760	C C	CTT CTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show HG00642.hp2 HG01109.hp1 HG02135.hp2 HG02738.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18961.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19067.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0019 a0003c0006 a0003c0009 a0003c0019	a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 others(3): Show a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 a0003c0006t0048 a0003c0009t0002 a0003c0019t0006	a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 others(16): Show a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 a0003c0006t0003g0182 a0003c0006t0003g0183 a0003c0006t0003g0184 a0003c0006t0003g0185 a0003c0006t0003g0188 a0003c0006t0003g0243 a0003c0006t0006g0138 a0003c0006t0016g0279 a0003c0006t0016g0314 a0003c0006t0048g0086 a0003c0009t0002g0051 a0003c0009t0002g0052 a0003c0009t0002g0053 a0003c0009t0002g0054 a0003c0009t0002g0246 a0003c0019t0006g0115	19	362	0.0525	2	c.440 others(9): Show c.440_441dupAA	p.Val others(5): Show p.Val148fs	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	8/14	813/5610	441/1614	147/537		chr19	TogoVar
CASKIN1_chr16_2172180_2201605	2183700	GATCTTCT others(3): Show GATCTTCTTCC	G G	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0182 a0014c0022t0001g0182	1	350	0.0029	-10	c.156 others(19): Show c.1565_1574delGGAAGAAGAT	p.Arg others(5): Show p.Arg522fs	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	16/20	1747/5839	1565/4296	522/1431		chr16	TogoVar
CASK_chrX_41509934_41928554	41609948	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	164	0.0061	-1	c.111 others(5): Show c.1110delT	p.Leu others(5): Show p.Leu371fs	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/27	1676/8833	1110/2781	370/926		chrX	TogoVar
CASP5_chr11_104989243_105028168	105008883	TAGCATGT others(25): Show TAGCATGTGGTTTATCACGAAGTTATCCAATCC	T T	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 HG03704.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0265 a0024c0021t0001g0265	1	396	0.0025	-32	c.73_ others(38): Show c.73_104delGGATTGGATAACTTCGTGATAAACCACATGCT	p.Gly others(4): Show p.Gly25fs	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	2/10	136/1446	73/1305	25/434		chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66021479	GAGCCGTG others(26): Show GAGCCGTGGCCACTGACCTGAGCCTCCGCAGGAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	-33	c.167 others(45): Show c.1675_1691+16delGTCCTGCGGAGGCTCAGGTCAGTGGCCACGGCT	p.Val others(5): Show p.Val559fs	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/12		1675/2343	559/780		chr11	TogoVar
CATSPERG_chr19_38330830_38375943	38337293	AGGTGCTG others(12): Show AGGTGCTGTGGGCCCTGCTG	A A	frameshift_variant frameshift_variant	HIGH	HG01258.hp1 HG01258.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0280 a0008c0014t0001g0280	1	376	0.0027	-19	c.61_ others(24): Show c.61_79delGTGCTGTGGGCCCTGCTGG	p.Val others(4): Show p.Val21fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	2/29	121/3691	61/3480	21/1159	INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38362379	T T	TACTACTT others(22): Show TACTACTTCTTCTTGGCGAGCAATTGGCGA	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0173 a0015c0020t0001g0173	1	376	0.0027	29	c.216 others(38): Show c.2163_2191dupCTACTTCTTCTTGGCGAGCAATTGGCGAA	p.Ser others(5): Show p.Ser731fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	19/29	2252/3691	2192/3480	731/1159	INFO_REALIGN_3_PRIME	chr19	TogoVar
CAVIN3_chr11_6313946_6325501	6320408	C C	CTCAAAAA others(3): Show CTCAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0018 a0007c0013t0001g0018	1	426	0.0024	10	c.68_ others(15): Show c.68_69insCCTTTTTTGA	p.Thr others(4): Show p.Thr24fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	93/1028	68/786	23/261		chr11	TogoVar
CAVIN3_chr11_6313946_6325501	6320449	GCCCCCGC others(3): Show GCCCCCGCTCC	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0018 a0007c0013t0001g0018	1	426	0.0024	-10	c.18_ others(15): Show c.18_27delGGAGCGGGGG	p.Leu others(3): Show p.Leu6fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	52/1028	18/786	6/261		chr11	TogoVar
CBARP_chr19_1223287_1243005	1229582	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG03669.hp1 HG03831.hp1 others(11): Show HG02055.hp1 HG03669.hp1 HG03831.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18964.hp1 NA18974.hp2 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA19057.hp2	a0000 a0000	a0000c0006 a0000c0015 a0000c0022 others(3): Show a0000c0006 a0000c0015 a0000c0022 a0000c0025 a0000c0026 a0000c0027	a0000c0006t0001 a0000c0006t0006 a0000c0006t0011 others(7): Show a0000c0006t0001 a0000c0006t0006 a0000c0006t0011 a0000c0006t0012 a0000c0006t0018 a0000c0015t0001 a0000c0022t0003 a0000c0025t0001 a0000c0026t0001 a0000c0027t0003	a0000c0006t0001g0071 a0000c0006t0001g0088 a0000c0006t0001g0124 others(11): Show a0000c0006t0001g0071 a0000c0006t0001g0088 a0000c0006t0001g0124 a0000c0006t0001g0136 a0000c0006t0006g0073 a0000c0006t0011g0112 a0000c0006t0012g0131 a0000c0006t0018g0072 a0000c0015t0001g0118 a0000c0015t0001g0123 a0000c0022t0003g0100 a0000c0025t0001g0069 a0000c0026t0001g0070 a0000c0027t0003g0105	14	408	0.0343	1	c.171 others(5): Show c.1714dupC	p.Arg others(5): Show p.Arg572fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	10/10	1985/3281	1714/2118	572/705		chr19	TogoVar
CBARP_chr19_1223287_1243005	1229727	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG02056.hp1 HG02602.hp2 others(8): Show HG01496.hp1 HG02056.hp1 HG02602.hp2 HG04184.hp1 NA18956.hp1 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA19030.hp2 NA19068.hp2 NA19086.hp1	a0000 a0000	a0000c0008 a0000c0009 a0000c0012 others(1): Show a0000c0008 a0000c0009 a0000c0012 a0000c0014	a0000c0008t0001 a0000c0008t0004 a0000c0009t0002 others(4): Show a0000c0008t0001 a0000c0008t0004 a0000c0009t0002 a0000c0009t0010 a0000c0012t0003 a0000c0014t0001 a0000c0014t0004	a0000c0008t0001g0081 a0000c0008t0001g0111 a0000c0008t0004g0113 others(7): Show a0000c0008t0001g0081 a0000c0008t0001g0111 a0000c0008t0004g0113 a0000c0008t0004g0125 a0000c0009t0002g0056 a0000c0009t0002g0062 a0000c0009t0010g0041 a0000c0012t0003g0035 a0000c0014t0001g0117 a0000c0014t0004g0115	11	408	0.0270	1	c.156 others(5): Show c.1569dupC	p.Ala others(5): Show p.Ala524fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	10/10	1840/3281	1569/2118	523/705		chr19	TogoVar
CBARP_chr19_1223287_1243005	1233478	G G	GACCTTGA others(13): Show GACCTTGAAATAGGGGCTGGC	frameshift_variant frameshift_variant	HIGH	HG01433.hp2 HG01433.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0126 a0011c0028t0001g0126	1	408	0.0025	20	c.907 others(27): Show c.907_926dupGCCAGCCCCTATTTCAAGGT	p.Lys others(5): Show p.Lys310fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	8/10	1197/3281	926/2118	309/705		chr19	TogoVar
CBLC_chr19_44772890_44805652	44793589	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show HG00738.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2	a0000 a0000	a0000c0002 a0000c0004 a0000c0007 others(1): Show a0000c0002 a0000c0004 a0000c0007 a0000c0017	a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 others(1): Show a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 a0000c0017t0001	a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(41): Show a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 a0000c0002t0001g0034 a0000c0002t0001g0036 a0000c0002t0001g0037 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0044 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0002t0001g0077 a0000c0002t0001g0079 a0000c0002t0001g0127 a0000c0002t0001g0179 a0000c0002t0001g0188 a0000c0002t0001g0193 a0000c0002t0001g0201 a0000c0002t0001g0217 a0000c0002t0001g0218 a0000c0002t0001g0225 a0000c0002t0001g0256 a0000c0002t0001g0261 a0000c0002t0001g0262 a0000c0002t0001g0272 a0000c0004t0001g0058 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0001g0092 a0000c0004t0001g0093 a0000c0004t0001g0094 a0000c0004t0001g0095 a0000c0004t0001g0113 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0000c0007t0001g0051 a0000c0007t0001g0057 a0000c0017t0001g0114	47	344	0.1366	1	c.125 others(5): Show c.1255dupC	p.Gln others(5): Show p.Gln419fs	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/11	1298/1576	1256/1425	419/474	INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLL2_chrX_22267913_22279461	22273107	G G	GGGACA GGGACA	frameshift_variant frameshift_variant	HIGH	NA18978.hp1 NA18978.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0001 a0011c0006t0001	a0011c0006t0001g0000 a0011c0006t0001g0000	1	346	0.0029	5	c.117 others(12): Show c.117_121dupGGACA	p.Ile others(4): Show p.Ile41fs	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding	1/1	201/1549	122/1278	41/425	INFO_REALIGN_3_PRIME	chrX	TogoVar
CBLL2_chrX_22267913_22279461	22273667	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0000 a0007c0009t0001g0000	1	346	0.0029	1	c.679 others(4): Show c.679dupA	p.Thr others(5): Show p.Thr227fs	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding	1/1	759/1549	680/1278	227/425	INFO_REALIGN_3_PRIME	chrX	TogoVar
CBLL2_chrX_22267913_22279461	22273977	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0000 a0006c0013t0001g0000	1	346	0.0029	-1	c.989 others(4): Show c.989delA	p.Lys others(5): Show p.Lys330fs	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding	1/1	1068/1549	989/1278	330/425	INFO_REALIGN_3_PRIME	chrX	TogoVar
CBLL2_chrX_22267913_22279461	22274128	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0000 a0006c0013t0001g0000	1	346	0.0029	-1	c.113 others(5): Show c.1138delA	p.Thr others(5): Show p.Thr380fs	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding	1/1	1217/1549	1138/1278	380/425		chrX	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 others(26): Show a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0016 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0004g0037 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0109 a0002c0003t0004g0111 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0115 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0120 a0002c0003t0004g0164 a0002c0003t0004g0165 a0002c0003t0004g0166 a0002c0003t0004g0179 a0002c0003t0006g0015 a0002c0003t0006g0137 a0002c0003t0006g0160 a0002c0003t0006g0161 a0008c0015t0012g0158	40	298	0.1342	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551		chr21	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGGTGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0048 a0002c0010t0001g0048	1	298	0.0034	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551		chr21	TogoVar

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