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
A2ML1_chr12_8817621_8881787	8843328	AAG AAG	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp1 NA19240.hp1	a0008 a0013 a0008 a0013	a0008c0012 a0008c0024 a0008c0038 others(1): Show a0008c0012 a0008c0024 a0008c0038 a0013c0021	a0008c0012t0002 a0008c0024t0003 a0008c0024t0004 others(2): Show a0008c0012t0002 a0008c0024t0003 a0008c0024t0004 a0008c0038t0003 a0013c0021t0002	a0008c0012t0002g0043 a0008c0012t0002g0076 a0008c0012t0002g0165 others(7): Show a0008c0012t0002g0043 a0008c0012t0002g0076 a0008c0012t0002g0165 a0008c0012t0002g0167 a0008c0024t0003g0027 a0008c0024t0004g0277 a0008c0038t0003g0039 a0013c0021t0002g0117 a0013c0021t0002g0160 a0013c0021t0002g0196	10	368	0.0272	-2	c.144 others(11): Show c.1444_1445delAG	p.Ser others(5): Show p.Ser482fs	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/36	1475/5127	1444/4365	482/1454		chr12	TogoVar
A2ML1_chr12_8817621_8881787	8863966	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00642.hp2 HG01496.hp1 others(8): Show HG00280.hp2 HG00642.hp2 HG01496.hp1 HG01515.hp2 HG02015.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1	a0005 a0005	a0005c0009 a0005c0066 a0005c0009 a0005c0066	a0005c0009t0001 a0005c0066t0001 a0005c0009t0001 a0005c0066t0001	a0005c0009t0001g0001 a0005c0009t0001g0055 a0005c0009t0001g0056 others(7): Show a0005c0009t0001g0001 a0005c0009t0001g0055 a0005c0009t0001g0056 a0005c0009t0001g0068 a0005c0009t0001g0077 a0005c0009t0001g0110 a0005c0009t0001g0111 a0005c0009t0001g0225 a0005c0009t0001g0340 a0005c0066t0001g0235	11	368	0.0299	-2	c.367 others(11): Show c.3676_3677delGC	p.Ala others(6): Show p.Ala1226fs	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	29/36	3707/5127	3676/4365	1226/1454		chr12	TogoVar
ABCA10_chr17_69143007_69233824	69149049	TGA TGA	T T	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 others(38): Show a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 a0004c0004t0003g0105 a0004c0004t0003g0141 a0004c0004t0003g0193 a0004c0004t0003g0207 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0232 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0241 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0247 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0271 a0004c0004t0003g0272 a0004c0004t0003g0280 a0004c0004t0003g0304 a0004c0004t0011g0316 a0004c0006t0003g0033 a0004c0006t0003g0034 a0004c0006t0003g0044 a0004c0006t0003g0045 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0004c0006t0003g0104 a0004c0006t0003g0121 a0004c0006t0003g0122 a0004c0006t0003g0152 a0004c0006t0003g0269 a0004c0006t0011g0330	42	348	0.1207	-2	c.451 others(11): Show c.4515_4516delTC	p.Gln others(6): Show p.Gln1506fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	38/39	5072/6008	4515/4632	1505/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69154324	C C	CACCTGGA others(1): Show CACCTGGAA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0007 a0006c0016 others(1): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(4): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007	a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 others(32): Show a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0218 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0240 a0005c0005t0004g0262 a0005c0005t0015g0217 a0006c0007t0004g0111 a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0188 a0006c0007t0004g0190 a0006c0007t0004g0191 a0006c0007t0004g0192 a0006c0007t0004g0195 a0006c0007t0010g0339 a0006c0007t0010g0340 a0006c0007t0010g0341 a0006c0016t0004g0186 a0006c0016t0004g0189 a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338	36	348	0.1035	8	c.369 others(19): Show c.3695-6_3696dupTTCCAGGT	p.Glu others(6): Show p.Glu1233fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	31/39	4252/6008	3696/4632	1232/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193976	AAT AAT	A A	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0025	a0005c0005 a0006c0007 a0006c0016 others(2): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008 a0025c0029	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(5): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0025c0029t0014	a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 others(33): Show a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0218 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0240 a0005c0005t0004g0262 a0005c0005t0015g0217 a0006c0007t0004g0111 a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0188 a0006c0007t0004g0190 a0006c0007t0004g0191 a0006c0007t0004g0192 a0006c0007t0004g0195 a0006c0007t0010g0339 a0006c0007t0010g0340 a0006c0007t0010g0341 a0006c0016t0004g0186 a0006c0016t0004g0189 a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338 a0025c0029t0014g0197	37	348	0.1063	-2	c.135 others(11): Show c.1357_1358delAT	p.Ile others(5): Show p.Ile453fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	1914/6008	1357/4632	453/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69194395	AACAG AACAG	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 others(38): Show a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 a0004c0004t0003g0105 a0004c0004t0003g0141 a0004c0004t0003g0193 a0004c0004t0003g0207 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0232 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0241 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0247 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0271 a0004c0004t0003g0272 a0004c0004t0003g0280 a0004c0004t0003g0304 a0004c0004t0011g0316 a0004c0006t0003g0033 a0004c0006t0003g0034 a0004c0006t0003g0044 a0004c0006t0003g0045 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0004c0006t0003g0104 a0004c0006t0003g0121 a0004c0006t0003g0122 a0004c0006t0003g0152 a0004c0006t0003g0269 a0004c0006t0011g0330	42	348	0.1207	-4	c.133 others(13): Show c.1331_1334delCTGT	p.Ser others(5): Show p.Ser444fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	12/39	1890/6008	1331/4632	444/1543		chr17	TogoVar
ABCB7_chrX_75046048_75161283	75098951	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0174 a0004c0007t0005g0174	1	232	0.0043	-1	c.443 others(4): Show c.443delG	p.Gly others(5): Show p.Gly148fs	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/16	454/4592	443/2259	148/752		chrX	TogoVar
ABCB7_chrX_75046048_75161283	75098970	A A	AAT AAT	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0174 a0004c0007t0005g0174	1	232	0.0043	2	c.424 others(9): Show c.424_425insAT	p.Ile others(5): Show p.Ile142fs	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/16	435/4592	424/2259	142/752		chrX	TogoVar
ABCB7_chrX_75046048_75161283	75099004	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0174 a0004c0007t0005g0174	1	232	0.0043	1	c.390 others(4): Show c.390dupC	p.Lys others(5): Show p.Lys131fs	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/16	401/4592	390/2259	130/752		chrX	TogoVar
ABCC10_chr6_43422541_43455427	43450013	C C	CACCTATC others(42): Show CACCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGCCTCCCCGAGCCA	frameshift_variant frameshift_variant	HIGH	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	49	c.440 others(58): Show c.4402_4403insCCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGC CTCCCCGAGCCAA	p.Asn others(6): Show p.Asn1468fs	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4631/5043	4403/4479	1468/1492	INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC12_chr16_48075882_48160993	48143986	CTT CTT	C C	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG02622.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 NA20300.hp2	a0006 a0006	a0006c0010 a0006c0021 a0006c0029 others(1): Show a0006c0010 a0006c0021 a0006c0029 a0006c0030	a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 others(1): Show a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001	a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 others(4): Show a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119	7	134	0.0522	-2	c.197 others(9): Show c.197_198delAA	p.Lys others(4): Show p.Lys66fs	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	4/31	670/7385	197/4080	66/1359		chr16	TogoVar
ABCC3_chr17_50629881_50697253	50669464	CCTGTGCC others(7): Show CCTGTGCCTTGCTAG	C C	frameshift_variant frameshift_variant	HIGH	NA19003.hp1 NA19003.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0151 a0012c0025t0001g0151	1	342	0.0029	-14	c.218 others(23): Show c.2181_2194delTGCCTTGCTAGCTG	p.Cys others(5): Show p.Cys727fs	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	17/31	2237/5693	2181/4584	727/1527	INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673462	T T	TCCCCAGA others(15): Show TCCCCAGACGCGAGTGCTGGTGA	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	342	0.0029	22	c.241 others(33): Show c.2410-5_2426dupCCCAGACGCGAGTGCTGGTGAC	p.His others(5): Show p.His810fs	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/31	2483/5693	2427/4584	809/1527	INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC5_chr3_183914934_184022884	183950088	G G	GATGAACA others(25): Show GATGAACATCTCGGCCTGGAACGGCAGCCGCAC	frameshift_variant frameshift_variant	HIGH	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0320 a0006c0019t0002g0320	1	378	0.0027	32	c.295 others(41): Show c.2950_2981dupGTGCGGCTGCCGTTCCAGGCCGAGATGTTCAT	p.Ile others(5): Show p.Ile994fs	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	21/30	3091/5790	2981/4314	994/1437		chr3	TogoVar
ABCC6_chr16_16144565_16228494	16177618	A A	AATCCGTG others(6): Show AATCCGTGTCTGGG	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0037 a0037	a0037c0061 a0037c0061	a0037c0061t0001 a0037c0061t0001	a0037c0061t0001g0129 a0037c0061t0001g0129	1	357	0.0028	13	c.241 others(24): Show c.2416-5_2423dupCCCAGACACGGAT	p.Leu others(5): Show p.Leu809fs	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	19/31	2483/5140	2423/4512	808/1503		chr16	TogoVar
ABCD1_chrX_153719856_153749755	153725342	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	-1	c.78d others(3): Show c.78delC	p.Tyr others(4): Show p.Tyr27fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	489/3669	78/2238	26/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725363	T T	TA TA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.98d others(3): Show c.98dupA	p.Tyr others(4): Show p.Tyr33fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	510/3669	99/2238	33/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725387	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.125 others(4): Show c.125dupC	p.Ala others(4): Show p.Ala43fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	537/3669	126/2238	42/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725440	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.178 others(4): Show c.178dupG	p.Val others(4): Show p.Val60fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	590/3669	179/2238	60/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725469	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.205 others(4): Show c.205dupC	p.Arg others(4): Show p.Arg69fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	617/3669	206/2238	69/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725512	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.248 others(4): Show c.248dupT	p.Arg others(4): Show p.Arg85fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	660/3669	249/2238	83/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725739	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	-1	c.475 others(4): Show c.475delG	p.Ala others(5): Show p.Ala159fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	886/3669	475/2238	159/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725808	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0062 a0003c0004t0013g0062	1	285	0.0035	1	c.544 others(4): Show c.544dupC	p.Arg others(5): Show p.Arg182fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	956/3669	545/2238	182/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725880	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	-1	c.616 others(4): Show c.616delG	p.Ala others(5): Show p.Ala206fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	1027/3669	616/2238	206/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725889	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.625 others(4): Show c.625dupG	p.Ala others(5): Show p.Ala209fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	1037/3669	626/2238	209/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725974	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	1	c.710 others(4): Show c.710dupG	p.Ala others(5): Show p.Ala238fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	1122/3669	711/2238	237/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153729251	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0059 a0005c0005t0001g0059	1	285	0.0035	-1	c.921 others(4): Show c.921delG	p.Gln others(5): Show p.Gln307fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	2/10	1332/3669	921/2238	307/745		chrX	TogoVar
ABCD1_chrX_153719856_153749755	153729316	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0059 a0005c0005t0001g0059	1	285	0.0035	1	c.986 others(4): Show c.986dupT	p.Met others(5): Show p.Met329fs	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	2/10	1398/3669	987/2238	329/745	INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCF3_chr3_184181199_184199005	184193134	G G	GGAGTCAT others(42): Show GGAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGAGAGACCACCGAT	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	49	c.178 others(58): Show c.1784_1785insAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGA GAGACCACCGATG	p.Arg others(5): Show p.Arg596fs	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1794/2446	1785/2130	595/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD16A_chr6_31681955_31708324	31687701	C C	CACCAGTC others(30): Show CACCAGTCCTCTTCCACCTCCCATACACAAGAAAACAT	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0105 a0004c0008t0002g0105	1	417	0.0024	37	c.148 others(46): Show c.1486_1487insATGTTTTCTTGTGTATGGGAGGTGGAAGAGGACTGG T	p.Cys others(5): Show p.Cys496fs	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	18/20	1529/1977	1486/1677	496/558		chr6	TogoVar
ABHD16B_chr20_63856498_63867988	63861822	C C	CGGCCAGC others(16): Show CGGCCAGCTCGCTAGCTACGCGCT	frameshift_variant frameshift_variant	HIGH	HG03834.hp1 HG03834.hp1	a0014 a0014	a0014c0009 a0014c0009	a0014c0009t0001 a0014c0009t0001	a0014c0009t0001g0000 a0014c0009t0001g0000	1	398	0.0025	23	c.287 others(30): Show c.287_309dupAGCTCGCTAGCTACGCGCTGGCC	p.His others(5): Show p.His104fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	353/1491	310/1410	104/469	INFO_REALIGN_3_PRIME	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862607	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG03453.hp1 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19011.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0016 a0006c0007 a0003c0003 a0003c0016 a0006c0007	a0003c0003t0001 a0003c0016t0001 a0006c0007t0001 a0003c0003t0001 a0003c0016t0001 a0006c0007t0001	a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000 a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000	18	398	0.0452	1	c.107 others(5): Show c.1071dupC	p.Val others(5): Show p.Val358fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1115/1491	1072/1410	358/469	INFO_REALIGN_3_PRIME	chr20	TogoVar
ACE2_chrX_15556033_15605960	15561936	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	1	c.238 others(5): Show c.2386dupC	p.Gln others(5): Show p.Gln796fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	18/18	2435/3339	2386/2418	796/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564088	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.224 others(5): Show c.2244delT	p.Val others(5): Show p.Val749fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2293/3339	2244/2418	748/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564106	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.222 others(5): Show c.2226delG	p.Trp others(5): Show p.Trp742fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2275/3339	2226/2418	742/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564137	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.219 others(5): Show c.2195delG	p.Gly others(5): Show p.Gly732fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2244/3339	2195/2418	732/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15566331	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.203 others(5): Show c.2035delA	p.Ile others(5): Show p.Ile679fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	16/18	2084/3339	2035/2418	679/805		chrX	TogoVar
ACHE_chr7_100884994_100900888	100893725	C C	CCAAGAAG others(42): Show CCAAGAAGCGGCCATCGTACACGTCCAAGGAGGAGGCCCCACTGTAGAAG	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0062 a0006c0008t0001g0062	1	414	0.0024	49	c.459 others(56): Show c.459_507dupCTTCTACAGTGGGGCCTCCTCCTTGGACGTGTACGATG GCCGCTTCTTG	p.Val others(5): Show p.Val170fs	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	614/2172	507/1845	169/614		chr7	TogoVar
ACKR3_chr2_236564825_236587354	236580782	AGCACAAC others(4): Show AGCACAACCAGT	A A	frameshift_variant frameshift_variant	HIGH	HG02015.hp2 HG02015.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0078 a0007c0014t0001g0078	1	394	0.0025	-11	c.319 others(18): Show c.319_329delCACAACCAGTG	p.His others(5): Show p.His107fs	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	445/2015	319/1089	107/362	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580894	CCTCTCCA others(3): Show CCTCTCCATCA	C C	frameshift_variant frameshift_variant	HIGH	HG02015.hp2 HG02015.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0078 a0007c0014t0001g0078	1	394	0.0025	-10	c.431 others(17): Show c.431_440delTCTCCATCAC	p.Leu others(5): Show p.Leu144fs	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	557/2015	431/1089	144/362	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOT8_chr20_45836721_45862392	45857313	C C	CATCT CATCT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show HG00423.hp1 HG00597.hp2 HG02165.hp2 HG03834.hp1 HG03927.hp2 NA18952.hp2 NA18961.hp1 NA18973.hp1 NA18978.hp1 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0035 others(3): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051	11	422	0.0261	4	c.-2_ others(8): Show c.-2_2dupAGAT	p.Met others(3): Show p.Met1fs	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	1/6	79/1154	2/960	1/319		chr20	TogoVar
ACOT9_chrX_23696055_23748276	23703959	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0055 a0005c0007t0055	a0005c0007t0055g0271 a0005c0007t0055g0271	1	309	0.0032	-1	c.128 others(5): Show c.1281delG	p.Gln others(5): Show p.Gln428fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	16/16	1413/4318	1281/1347	427/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23704707	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0055 a0005c0007t0055	a0005c0007t0055g0271 a0005c0007t0055g0271	1	309	0.0032	1	c.124 others(5): Show c.1244dupC	p.Thr others(5): Show p.Thr417fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	15/16	1376/4318	1244/1347	415/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23704746	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0019 a0006c0008t0019	a0006c0008t0019g0113 a0006c0008t0019g0113	1	309	0.0032	1	c.120 others(5): Show c.1205dupT	p.Thr others(5): Show p.Thr403fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	15/16	1337/4318	1205/1347	402/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23704820	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0055 a0005c0007t0055	a0005c0007t0055g0271 a0005c0007t0055g0271	1	309	0.0032	1	c.113 others(5): Show c.1131dupT	p.Ile others(5): Show p.Ile378fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	15/16	1263/4318	1131/1347	377/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23704826	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0019 a0006c0008t0019	a0006c0008t0019g0113 a0006c0008t0019g0113	1	309	0.0032	-1	c.112 others(5): Show c.1125delT	p.Asn others(5): Show p.Asn375fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	15/16	1257/4318	1125/1347	375/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23705000	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0019 a0006c0008t0019	a0006c0008t0019g0113 a0006c0008t0019g0113	1	309	0.0032	-1	c.109 others(5): Show c.1099delT	p.Ser others(5): Show p.Ser367fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	14/16	1231/4318	1099/1347	367/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23705003	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0055 a0005c0007t0055	a0005c0007t0055g0271 a0005c0007t0055g0271	1	309	0.0032	1	c.109 others(10): Show c.1096_1097insG	p.Leu others(5): Show p.Leu366fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	14/16	1228/4318	1096/1347	366/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23705073	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0019 a0006c0008t0019	a0006c0008t0019g0113 a0006c0008t0019g0113	1	309	0.0032	1	c.102 others(10): Show c.1026_1027insA	p.Arg others(5): Show p.Arg343fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	14/16	1158/4318	1026/1347	342/448		chrX	TogoVar
ACOT9_chrX_23696055_23748276	23705527	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0047 a0004c0006t0047	a0004c0006t0047g0196 a0004c0006t0047g0196	1	309	0.0032	1	c.100 others(5): Show c.1000dupG	p.Ala others(5): Show p.Ala334fs	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	13/16	1132/4318	1000/1347	334/448		chrX	TogoVar

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