Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPO_chr2_206934518_206974474	206943702	AGATAGAT others(28): Show AGATAGATAGATAGATGATGGATAGATGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG02132.hp2 others(11): Show HG00323.hp2 HG00673.hp2 HG02132.hp2 HG02135.hp1 HG04204.hp2 NA18950.hp1 NA18955.hp2 NA18981.hp2 NA18993.hp2 NA19010.hp2 NA19075.hp2 NA19076.hp1 NA19088.hp1 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0038 others(7): Show a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0329 a0002c0003t0001g0352 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0362	14	422	0.0332	-35	c.68+ others(50): Show c.68+4036_68+4070delGATAGATAGATAGATGATGGATAGATGATA GATAG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8			chr2	TogoVar
CPQ_chr8_96640242_97148501	97122917	TAAAATAA others(28): Show TAAAATAAAATAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp2 HG00733.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0002t0001g0018 a0001c0001t0001g0042 a0001c0002t0001g0018	2	126	0.0159	-35	c.125 others(56): Show c.1256-20099_1256-20065delATAAAATAAATAAAATAAAATAAA ATAAAATAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPZ_chr4_8587765_8624752	8614263	GCGTCCCG others(28): Show GCGTCCCGGCTGTCTCTGTGCGGCTGACACCCCTGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02723.hp1 HG02895.hp1 others(8): Show HG00733.hp2 HG02723.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 NA19030.hp1 NA20752.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0015 a0020	a0001c0044 a0006c0015 a0007c0025 others(3): Show a0001c0044 a0006c0015 a0007c0025 a0007c0043 a0015c0023 a0020c0064	a0001c0044t0002 a0006c0015t0002 a0007c0025t0002 others(3): Show a0001c0044t0002 a0006c0015t0002 a0007c0025t0002 a0007c0043t0002 a0015c0023t0002 a0020c0064t0002	a0001c0044t0002g0206 a0006c0015t0002g0239 a0006c0015t0002g0241 others(8): Show a0001c0044t0002g0206 a0006c0015t0002g0239 a0006c0015t0002g0241 a0006c0015t0002g0242 a0006c0015t0002g0243 a0007c0025t0002g0225 a0007c0025t0002g0226 a0007c0043t0002g0176 a0015c0023t0002g0156 a0015c0023t0002g0157 a0020c0064t0002g0258	11	442	0.0249	-35	c.136 others(50): Show c.1364-54_1364-20delGGCTGTCTCTGTGCGGCTGACACCCCTGAC GTCCC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8614305	GGCTGTCT others(28): Show GGCTGTCTCTGTGCGGCTGACACCCCTGACGTCCCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0223 a0001c0012t0002g0224 a0001c0012t0002g0223 a0001c0012t0002g0224	2	442	0.0045	-35	c.136 others(49): Show c.1364-40_1364-6delGGCTGACACCCCTGACGTCCCCGCTGTCTCT GTGC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRB1_chr1_197263252_197483455	197354821	CCCCACCC others(28): Show CCCCACCCCCCCCCCCCGCCCACCCCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	186	0.0054	-35	c.989 others(52): Show c.989-2002_989-1968delCCCCCCCCCGCCCACCCCCCCCCCCCCG CCCACCC	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123377426	GTCCTGAC others(28): Show GTCCTGACATGGCTCCAGGGCGTGTCTGCCGTGTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0143 a0001c0004t0020g0143	1	432	0.0023	-35	c.36 others(44): Show c.365_*399delTCCTGACATGGCTCCAGGGCGTGTCTGCCGTGTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	13/13	365		chr9	TogoVar
CREBBP_chr16_3720054_3885713	3849421	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	286	0.0035	-35	c.798 others(50): Show c.798+841_798+875delACACACACACACACACACACACACACACAC ACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CROCC2_chr2_240901336_240998311	240910332	ACAGAAAG others(28): Show ACAGAAAGCCCAGTCCCCTCAGAGCTGGGGGCTCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(109): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18994.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0015 a0016 a0017 a0018 a0022 a0026 a0027 a0040 a0041 a0042 a0043 a0048 a0052 a0062	a0001c0001 a0001c0020 a0001c0022 others(27): Show a0001c0001 a0001c0020 a0001c0022 a0001c0024 a0001c0067 a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0003c0003 a0004c0004 a0005c0005 a0008c0008 a0010c0009 a0011c0044 a0011c0045 a0015c0016 a0016c0061 a0017c0063 a0018c0017 a0022c0042 a0026c0078 a0027c0034 a0040c0057 a0041c0058 a0042c0065 a0043c0059 a0048c0066 a0052c0072 a0062c0095	a0001c0001t0002 a0001c0001t0004 a0001c0020t0002 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0020t0002 a0001c0022t0002 a0001c0024t0002 a0001c0067t0002 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0005c0005t0002 a0008c0008t0002 a0010c0009t0002 a0011c0044t0002 a0011c0045t0002 a0015c0016t0002 a0016c0061t0002 a0017c0063t0004 a0018c0017t0002 a0022c0042t0002 a0026c0078t0004 a0027c0034t0002 a0040c0057t0002 a0041c0058t0002 a0042c0065t0002 a0043c0059t0002 a0048c0066t0002 a0052c0072t0002 a0062c0095t0002	a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0248 others(109): Show a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0004g0271 a0001c0001t0004g0285 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0319 a0001c0001t0004g0340 a0001c0020t0002g0263 a0001c0022t0002g0322 a0001c0022t0002g0343 a0001c0024t0002g0238 a0001c0024t0002g0342 a0001c0067t0002g0287 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0268 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0283 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0336 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0011t0002g0305 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0011t0002g0334 a0002c0012t0002g0250 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0002c0033t0002g0291 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0004c0004t0001g0061 a0004c0004t0002g0244 a0004c0004t0002g0257 a0005c0005t0002g0321 a0008c0008t0002g0251 a0008c0008t0002g0254 a0008c0008t0002g0262 a0008c0008t0002g0266 a0008c0008t0002g0270 a0008c0008t0002g0275 a0008c0008t0002g0279 a0008c0008t0002g0281 a0008c0008t0002g0284 a0008c0008t0002g0286 a0008c0008t0002g0296 a0008c0008t0002g0299 a0008c0008t0002g0300 a0008c0008t0002g0330 a0008c0008t0002g0337 a0008c0008t0002g0344 a0010c0009t0002g0005 a0010c0009t0002g0290 a0011c0044t0002g0317 a0011c0045t0002g0320 a0015c0016t0002g0246 a0016c0061t0002g0307 a0017c0063t0004g0310 a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 a0022c0042t0002g0282 a0026c0078t0004g0341 a0027c0034t0002g0261 a0040c0057t0002g0335 a0041c0058t0002g0309 a0042c0065t0002g0339 a0043c0059t0002g0295 a0048c0066t0002g0269 a0052c0072t0002g0239 a0062c0095t0002g0298	112	350	0.3200	-35	c.78+ others(50): Show c.78+3746_78+3780delAAGCCCAGTCCCCTCAGAGCTGGGGGCTCC TCAGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924342	CCCCCAAC others(28): Show CCCCCAACACTAACCCAGCCCCCACACTAACCCGGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0305 a0002c0011t0002g0305	1	350	0.0029	-35	c.489 others(52): Show c.489-1376_489-1342delACACTAACCCAGCCCCCACACTAACCCG GTCCCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924672	AGCCCCCA others(28): Show AGCCCCCACACTGACCCGGCCCCCCACACTGACCCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0054 a0054	a0054c0036 a0054c0036	a0054c0036t0001 a0054c0036t0001	a0054c0036t0001g0231 a0054c0036t0001g0231	1	350	0.0029	-35	c.489 others(52): Show c.489-1035_489-1001delGGCCCCCCACACTGACCCGGCCCCCACA CTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985248	GGCACTCA others(28): Show GGCACTCACTCCACACACACACCCAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	350	0.0029	-35	c.455 others(54): Show c.4551+2220_4551+2254delGCACTCACTCCACACACACACCCAGG CACTCCACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97924092	CAGGTCTG others(28): Show CAGGTCTGCACACCACACAACATGCCATACATCATT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0006 a0001c0013t0001g0006	1	204	0.0049	-35	c.422 others(50): Show c.422-727_422-693delAATGATGTATGGCATGTTGTGTGGTGTGCA GACCT	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	3/14			chr10	TogoVar
CRTAP_chr3_33109014_33152773	33150307	CCTGTATT others(28): Show CCTGTATTAATAATTTGTAATAAATTTATTAATACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0221 a0001c0002t0037g0221	1	408	0.0025	-35	c.78 others(46): Show c.7860_*7894delCTGTATTAATAATTTGTAATAAATTTATTAATAC A	CRTAP	ENSG00000170275.15	transcript	ENST00000320954.11	protein_coding		2535		chr3	TogoVar
CRY1_chr12_106986364_107098549	107098202	AAAAGGAA others(28): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	320	0.0031	-35	c.-52 others(46): Show c.-5276_-5242delCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT T	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding		4654		chr12	TogoVar
CRYAA_chr21_43164008_43177805	43171242	TGCCCCGC others(28): Show TGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0022 a0003c0010t0002g0022	1	40	0.0250	-35	c.312 others(50): Show c.312+604_312+638delGCCCCGCTCTTGCTCGGCTGGAGGCCTCGG ATCTC	CRYAA	ENSG00000160202.7	transcript	ENST00000291554.6	protein_coding	2/2			chr21	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461456	TGCACAGC others(28): Show TGCACAGCAGCCACATTCACCAAGGAGGGCCTATCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0228 a0002c0003t0003g0228	1	238	0.0042	-35	c.635 others(52): Show c.635-2849_635-2815delGGATAGGCCCTCCTTGGTGAATGTGGCT GCTGTGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	AGCCACAT others(28): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01934.hp1 HG02630.hp1 others(2): Show HG00140.hp2 HG01934.hp1 HG02630.hp1 HG03540.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0002t0023 a0001c0002t0044 others(1): Show a0001c0002t0004 a0001c0002t0023 a0001c0002t0044 a0001c0007t0021	a0001c0002t0004g0038 a0001c0002t0004g0158 a0001c0002t0023g0096 others(2): Show a0001c0002t0004g0038 a0001c0002t0004g0158 a0001c0002t0023g0096 a0001c0002t0044g0186 a0001c0007t0021g0030	5	238	0.0210	-35	c.635 others(52): Show c.635-2892_635-2858delCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461858	CACCATGG others(28): Show CACCATGGAGGGCGTATCCACACAGCAGCCACATTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0035 a0001c0002t0008g0035	1	238	0.0042	-35	c.635 others(52): Show c.635-3251_635-3217delAAATGTGGCTGCTGTGTGGATACGCCCT CCATGGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667003	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0011 a0002c0022t0011	a0002c0022t0011g0089 a0002c0022t0011g0089	1	238	0.0042	-35	c.-39 others(56): Show c.-391-65173_-391-65139delTTCCTTCCTTCCTTCCTTCCTTTC TTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667007	GAAAGAAA others(28): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp1 HG03471.hp2 HG01361.hp1 HG02451.hp1 HG03471.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0018 a0002c0003 a0010c0018	a0002c0003t0020 a0002c0003t0037 a0010c0018t0003 a0002c0003t0020 a0002c0003t0037 a0010c0018t0003	a0002c0003t0020g0101 a0002c0003t0037g0233 a0010c0018t0003g0039 a0002c0003t0020g0101 a0002c0003t0037g0233 a0010c0018t0003g0039	3	238	0.0126	-35	c.-39 others(56): Show c.-391-65177_-391-65143delTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660480	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01255.hp1 others(11): Show HG00099.hp2 HG00735.hp2 HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02886.hp1 HG03139.hp2 HG03540.hp1 HG03710.hp2 NA18971.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0022 a0023 a0037	a0001c0005 a0001c0033 a0001c0039 others(11): Show a0001c0005 a0001c0033 a0001c0039 a0001c0045 a0001c0073 a0001c0114 a0002c0015 a0002c0030 a0002c0031 a0003c0057 a0006c0083 a0022c0013 a0023c0095 a0037c0101	a0001c0005t0007 a0001c0033t0003 a0001c0039t0066 others(11): Show a0001c0005t0007 a0001c0033t0003 a0001c0039t0066 a0001c0045t0012 a0001c0073t0007 a0001c0114t0003 a0002c0015t0021 a0002c0030t0016 a0002c0031t0015 a0003c0057t0080 a0006c0083t0004 a0022c0013t0007 a0023c0095t0002 a0037c0101t0008	a0001c0005t0007g0070 a0001c0033t0003g0059 a0001c0039t0066g0080 others(11): Show a0001c0005t0007g0070 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0045t0012g0010 a0001c0073t0007g0108 a0001c0114t0003g0119 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0031t0015g0001 a0003c0057t0080g0075 a0006c0083t0004g0006 a0022c0013t0007g0112 a0023c0095t0002g0124 a0037c0101t0008g0023	14	126	0.1111	-35	c.101 others(56): Show c.1010-43718_1010-43684delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4531950	AAGAAATC others(28): Show AAGAAATCCTGCACCTCCATTCAGTCACTCCGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG01081.hp1 others(16): Show HG00423.hp2 HG00735.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG02056.hp2 HG02129.hp1 HG02257.hp2 HG02683.hp2 HG03017.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18979.hp2 NA18982.hp2 NA19090.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0016 a0019 a0021 a0022 a0036	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0049 a0001c0071 a0001c0080 a0001c0103 a0001c0108 a0002c0012 a0002c0037 a0002c0075 a0002c0089 a0002c0092 a0004c0087 a0016c0063 a0019c0018 a0021c0016 a0022c0013 a0036c0100	a0001c0001t0039 a0001c0003t0008 a0001c0005t0002 others(16): Show a0001c0001t0039 a0001c0003t0008 a0001c0005t0002 a0001c0049t0002 a0001c0071t0069 a0001c0080t0040 a0001c0103t0033 a0001c0108t0054 a0002c0012t0017 a0002c0037t0009 a0002c0075t0026 a0002c0089t0001 a0002c0092t0001 a0004c0087t0001 a0016c0063t0010 a0019c0018t0058 a0021c0016t0048 a0022c0013t0007 a0036c0100t0017	a0001c0001t0039g0017 a0001c0003t0008g0053 a0001c0005t0002g0111 others(16): Show a0001c0001t0039g0017 a0001c0003t0008g0053 a0001c0005t0002g0111 a0001c0049t0002g0071 a0001c0071t0069g0115 a0001c0080t0040g0025 a0001c0103t0033g0028 a0001c0108t0054g0074 a0002c0012t0017g0088 a0002c0037t0009g0046 a0002c0075t0026g0051 a0002c0089t0001g0037 a0002c0092t0001g0011 a0004c0087t0001g0022 a0016c0063t0010g0045 a0019c0018t0058g0068 a0021c0016t0048g0106 a0022c0013t0007g0112 a0036c0100t0017g0121	19	126	0.1508	-35	c.302 others(56): Show c.302+105357_302+105391delCTTTCGGAGTGACTGAATGGAGGT GCAGGATTTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4532629	TGGAAGAG others(28): Show TGGAAGAGAAATCCTGCACCCCCATTCAGTCACTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0002c0074 a0001c0025 a0002c0074	a0001c0025t0003 a0002c0074t0041 a0001c0025t0003 a0002c0074t0041	a0001c0025t0003g0077 a0002c0074t0041g0031 a0001c0025t0003g0077 a0002c0074t0041g0031	2	126	0.0159	-35	c.302 others(56): Show c.302+104678_302+104712delGGAGTGACTGAATGGGGGTGCAGG ATTTCTCTTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920907	AAAAGAAA others(28): Show AAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0107 a0005c0107	a0005c0107t0068 a0005c0107t0068	a0005c0107t0068g0073 a0005c0107t0068g0073	1	126	0.0079	-35	c.85+ others(52): Show c.85+73390_85+73424delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405212	CCCATATA others(28): Show CCCATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	80	0.0125	-35	c.580 others(54): Show c.5809+1277_5809+1311delTATATATATATATATATATATATATA TATATATGG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542651	TATATATA others(28): Show TATATATATATATATATATATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	390	0.0026	-35	c.230 others(52): Show c.230+7389_230+7423delTATATATATATATACATATATATATATA TATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542657	TATATATA others(28): Show TATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03209.hp2 HG02683.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0117 a0001c0001t0010g0114 a0001c0001t0008g0117 a0001c0001t0010g0114	2	390	0.0051	-35	c.230 others(52): Show c.230+7383_230+7417delTATATATATATATATATATACATATATA TATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST8_chr20_23486117_23501010	23490165	ATATATAA others(28): Show ATATATAATATATATATAAATTATATATATATTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	440	0.0023	-35	c.-13 others(46): Show c.-1320_-1286delTATATAATATATATATAAATTATATATATATTAA T	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		951		chr20	TogoVar
CST8_chr20_23486117_23501010	23490304	ATATATAT others(28): Show ATATATATAAAATATATATAATTTATATATATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG03669.hp1 HG00673.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	440	0.0046	-35	c.-11 others(46): Show c.-1181_-1147delTATATATAAAATATATATAATTTATATATATAAA T	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		812		chr20	TogoVar
CSTF3_chr11_33079584_33166480	33163895	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG03209.hp2 others(1): Show HG00735.hp1 HG02109.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0021 a0001c0001t0001g0313 a0001c0001t0001g0315	4	360	0.0111	-35	c.-26 others(46): Show c.-2605_-2571delAAAAATATATATATATATATATATATATATATAT A	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2416		chr11	TogoVar
CTBP1_chr4_1206445_1254130	1236673	GGTGTCCA others(28): Show GGTGTCCACCTCCTGATGGGGCACAGGGCAAACCAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG03225.hp1 HG02615.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0130 a0001c0001t0002g0148 a0001c0001t0008g0154 a0001c0001t0001g0130 a0001c0001t0002g0148 a0001c0001t0008g0154	3	422	0.0071	-35	c.162 others(52): Show c.162+1475_162+1509delTTGGTTTGCCCTGTGCCCCATCAGGAGG TGGACAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1237327	GTGTCCAC others(28): Show GTGTCCACCTCCTGATGGGGCTCAGGGAAAACCCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	422	0.0024	-35	c.162 others(50): Show c.162+821_162+855delTGGGGTTTTCCCTGAGCCCCATCAGGAGGT GGACA	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1237611	TCACCTCC others(28): Show TCACCTCCTGATGGGGCTCAGGACAAACCCCGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(91): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0207 others(84): Show a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0207 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0351 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0195 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0004g0056 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0198 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0011g0039 a0001c0001t0018g0188	94	422	0.2228	-35	c.162 others(50): Show c.162+537_162+571delGACACGGGGTTTGTCCTGAGCCCCATCAGG AGGTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTDSP1_chr2_218394868_218410941	218402471	AATCCGGA others(28): Show AATCCGGAGCGCCTCGGATGGGAATTGGATACATGT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0042 a0001c0001t0012g0042	1	424	0.0024	-35	c.378 others(49): Show c.378+67_378+101delATCCGGAGCGCCTCGGATGGGAATTGGATAC ATGT	CTDSP1	ENSG00000144579.9	transcript	ENST00000273062.7	protein_coding	4/6			chr2	TogoVar
CTNND2_chr5_10966836_11909446	11816736	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	26	0.0385	-35	c.38- others(52): Show c.38-84499_38-84465delTCCCCCTCTCTCTCTCTCCTCCTCTCTC TCTCTCT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3656348	CTGCCCTG others(28): Show CTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	372	0.0027	-35	c.462 others(50): Show c.462-138_462-104delTGCCCTGCCCCTCCACCCCCGCCAGTCCTC ACCCT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11			chr17	TogoVar
CTSS_chr1_150725188_150770778	150744031	ATTATATA others(28): Show ATTATATATTATATGTATATTATGTATACATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp1 HG02293.hp1 HG01346.hp1 HG01981.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0184	3	344	0.0087	-35	c.896 others(52): Show c.896+3711_896+3745delATATTATGTATACATAATATACATATAA TATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112430189	TTCTTTTC others(28): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp2 homoSapiens_chm13v2.hp1 HG01346.hp1 HG01358.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0049 a0001c0002t0002g0059 a0001c0002t0002g0061	3	324	0.0093	-35	c.99+ others(52): Show c.99+13934_99+13968delTTTCTTTTCTTTTCTTTTCTTTTCTTGT CTTTTCT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTXND1_chr15_80190481_80257213	80220111	TATCTATC others(28): Show TATCTATCTATCTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0168 a0001c0001t0018g0168	1	396	0.0025	-35	c.-21 others(56): Show c.-217-16406_-217-16372delGATAGATAGATAGATAGATAGATA GATAGATAGAT	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUL4A_chr13_113204613_113272108	113232151	ACTGCTGC others(28): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03017.hp1 NA18948.hp2 HG02523.hp2 HG03017.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0210 a0002c0002t0001g0035 a0002c0002t0001g0039 a0001c0001t0001g0210 a0002c0002t0001g0035 a0002c0002t0001g0039	3	396	0.0076	-35	c.513 others(51): Show c.513-1021_513-987delTGCCACCACTACCCGCCCACCACCATTAC TGCTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CXXC1_chr18_50277347_50292692	50277492	GAACACAA others(28): Show GAACACAAATATATTATATTTGTGTTATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-35	c.50 others(46): Show c.5066_*5100delATATATATATAACACAAATATAATATATTTGTGT T	CXXC1	ENSG00000154832.16	transcript	ENST00000285106.11	protein_coding		4854		chr18	TogoVar
CYB561D1_chr1_109489094_109505435	109500960	CCCAGGGT others(28): Show CCCAGGGTCCACAGCCTGGTTTCCCTTTCCCCATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	370	0.0027	-35	c.47 others(46): Show c.4702_*4736delCCAGGGTCCACAGCCTGGTTTCCCTTTCCCCATT T	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		526		chr1	TogoVar
CYB5D2_chr17_4138197_4162697	4158067	TTCACTGG others(28): Show TTCACTGGCAGACCCGTGCTCACTGCCCCTGTCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00733.hp2 others(97): Show HG00099.hp2 HG00408.hp2 HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0006 others(1): Show a0001c0001 a0001c0003 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0001c0003t0002 a0001c0003t0011 a0003c0006t0002 a0005c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0002g0002 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0006g0007 a0001c0001t0006g0028 a0001c0001t0006g0037 a0001c0001t0006g0045 a0001c0001t0010g0002 a0001c0001t0022g0062 a0001c0003t0002g0002 a0001c0003t0011g0002 a0001c0003t0011g0072 a0003c0006t0002g0009 a0005c0008t0002g0002	100	370	0.2703	-35	c.98 others(45): Show c.986_*1020delTCACTGGCAGACCCGTGCTCACTGCCCCTGTCCCC	CYB5D2	ENSG00000167740.10	transcript	ENST00000301391.8	protein_coding		371		chr17	TogoVar
CYP17A1_chr10_102825531_102842413	102831079	AGGGAACC others(28): Show AGGGAACCCTGATCTGAGGATGTAGCCTTATTATGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(61): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA18941.hp2 NA18947.hp1 NA18950.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18973.hp1 NA18994.hp1 NA18995.hp2 NA19011.hp1 NA19067.hp1 NA19072.hp2 NA19078.hp2 NA19083.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 others(9): Show a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0003g0045	64	442	0.1448	-35	c.124 others(51): Show c.1244-129_1244-95delCCATAATAAGGCTACATCCTCAGATCAGG GTTCCC	CYP17A1	ENSG00000148795.7	transcript	ENST00000369887.4	protein_coding	7/7			chr10	TogoVar
CYTH3_chr7_6156779_6277624	6259780	ATATAATA others(28): Show ATATAATATATATATATATATATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	348	0.0029	-35	c.34+ others(52): Show c.34+12659_34+12693delATTATATATATATATATATATATATATA TATTATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAB1_chr1_56989778_57429060	57367043	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01192.hp2 others(16): Show HG00741.hp1 HG01175.hp2 HG01192.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp2 NA18968.hp2 NA19043.hp1 NA19083.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0002c0002t0003	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0035 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0002g0114 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0137 a0001c0001t0005g0011 a0001c0001t0006g0134 a0001c0001t0007g0010 a0001c0001t0007g0021 a0001c0001t0011g0059 a0001c0001t0012g0013 a0001c0001t0020g0046 a0002c0002t0003g0017	19	138	0.1377	-35	c.-13 others(56): Show c.-137+56852_-137+56886delATTTTATTTTATTTTATTTTATTT TATTTTATTTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DACH1_chr13_71432966_71872204	71654423	ATAAAATA others(28): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0039 a0002c0002t0001g0082 a0002c0002t0001g0083 a0001c0001t0002g0039 a0002c0002t0001g0082 a0002c0002t0001g0083	3	102	0.0294	-35	c.965 others(54): Show c.965-23741_965-23707delCTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86274457	TTTTTTTT others(28): Show TTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp1 others(54): Show HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02698.hp1 HG02735.hp1 HG02896.hp2 HG03017.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp1 NA19066.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0004g0125 a0001c0004t0001g0150 a0002c0003t0001g0096	57	166	0.3434	-35	c.489 others(56): Show c.489-102359_489-102325delCTTTTTTTTTTGAGACGGAGTCTT TCTGTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAPK1_chr9_87492867_87713634	87575213	CAATAAAA others(28): Show CAATAAAATAAAATAAAATAAAATAAAATAAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp1 others(48): Show HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00673.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG01934.hp2 HG01993.hp2 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18953.hp1 NA18977.hp2 NA18979.hp2 NA18990.hp1 NA19007.hp1 NA19011.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0031 a0002c0003 a0002c0006 a0002c0008 a0002c0011 a0003c0007 a0003c0027 a0003c0041 a0004c0013 a0004c0021 a0005c0014 a0006c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(25): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0009t0001 a0001c0010t0001 a0001c0031t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0011t0002 a0003c0007t0001 a0003c0007t0002 a0003c0027t0002 a0003c0041t0002 a0004c0013t0001 a0004c0021t0001 a0005c0014t0007 a0006c0023t0001	a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0072 others(48): Show a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0204 a0001c0002t0001g0049 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0160 a0001c0002t0003g0122 a0001c0002t0004g0219 a0001c0004t0001g0024 a0001c0004t0001g0074 a0001c0004t0001g0097 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0170 a0001c0004t0003g0120 a0001c0004t0005g0180 a0001c0005t0001g0088 a0001c0005t0003g0118 a0001c0005t0004g0174 a0001c0009t0001g0207 a0001c0010t0001g0054 a0001c0010t0001g0231 a0001c0031t0001g0125 a0002c0003t0001g0007 a0002c0003t0001g0032 a0002c0003t0001g0062 a0002c0003t0001g0200 a0002c0003t0001g0216 a0002c0003t0002g0068 a0002c0003t0009g0228 a0002c0006t0001g0100 a0002c0006t0001g0136 a0002c0006t0003g0119 a0002c0008t0002g0192 a0002c0011t0002g0198 a0002c0011t0002g0215 a0003c0007t0001g0016 a0003c0007t0002g0191 a0003c0007t0002g0194 a0003c0027t0002g0230 a0003c0041t0002g0026 a0004c0013t0001g0037 a0004c0013t0001g0223 a0004c0021t0001g0057 a0005c0014t0007g0044 a0006c0023t0001g0039	51	236	0.2161	-35	c.63- others(52): Show c.63-29714_63-29680delATAAAATAAAATAAAATAAAATAAAATA AAATAAA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAKD_chr17_45018344_45056632	45044268	ACAAGGCT others(28): Show ACAAGGCTCTTCCCCAGAGGGCTGCCCCATTCACTC	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18966.hp2 NA19070.hp2 NA18964.hp2 NA18966.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 a0001c0001t0005 a0001c0001t0008 a0001c0001t0037	a0001c0001t0005g0027 a0001c0001t0008g0028 a0001c0001t0037g0029 a0001c0001t0005g0027 a0001c0001t0008g0028 a0001c0001t0037g0029	3	408	0.0074	-35	c.-11 others(54): Show c.-115+7058_-115+7092delGAGTGAATGGGGCAGCCCTCTGGGGA AGAGCCTTG	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding	1/4			chr17	TogoVar

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