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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PARVB_chr22_44019302_44177939	44122504	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGACAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01346.hp1 HG01516.hp2 others(4): Show HG01168.hp2 HG01346.hp1 HG01516.hp2 HG02970.hp1 HG03834.hp2 NA18747.hp1 NA19057.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0012c0032	a0001c0001t0018 a0001c0001t0026 a0001c0002t0003 others(4): Show a0001c0001t0018 a0001c0001t0026 a0001c0002t0003 a0001c0002t0058 a0002c0003t0022 a0002c0003t0028 a0012c0032t0070	a0001c0001t0018g0007 a0001c0001t0026g0082 a0001c0002t0003g0201 others(4): Show a0001c0001t0018g0007 a0001c0001t0026g0082 a0001c0002t0003g0201 a0001c0002t0058g0020 a0002c0003t0022g0026 a0002c0003t0028g0331 a0012c0032t0070g0162	7	332	0.0211	-24	c.376 others(41): Show c.376+3380_376+3403delCAGAGAGACAGAGAGAGAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151653747	CTTCCTTC others(17): Show CTTCCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02735.hp1 others(3): Show HG01346.hp2 HG02109.hp2 HG02735.hp1 HG02886.hp2 HG02970.hp2 NA19090.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0004 a0002c0007 others(2): Show a0001c0002 a0002c0004 a0002c0007 a0002c0009 a0009c0017	a0001c0002t0002 a0002c0004t0003 a0002c0007t0001 others(2): Show a0001c0002t0002 a0002c0004t0003 a0002c0007t0001 a0002c0009t0003 a0009c0017t0002	a0001c0002t0002g0033 a0001c0002t0002g0199 a0002c0004t0003g0019 others(3): Show a0001c0002t0002g0033 a0001c0002t0002g0199 a0002c0004t0003g0019 a0002c0007t0001g0093 a0002c0009t0003g0052 a0009c0017t0002g0062	6	221	0.0272	-24	c.717 others(41): Show c.717+5049_717+5072delCTTCTTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653867	CCTCTTTC others(17): Show CCTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0200 a0005c0010t0002g0200	1	221	0.0045	-24	c.717 others(41): Show c.717+5166_717+5189delCTCTTTCTTTCTTTCTTTCTTTCT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15			chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0211 a0001c0006t0008g0211	1	221	0.0045	-24	c.717 others(41): Show c.717+5216_717+5239delCTTTCTTTCTTTCTTTCTTTCTTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241140192	GTGCAGTG others(17): Show GTGCAGTGGCGCAATCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01928.hp2 others(23): Show HG00280.hp1 HG00323.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02135.hp1 HG02293.hp1 HG02523.hp1 HG03834.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18971.hp2 NA18974.hp1 NA18981.hp1 NA18988.hp1 NA18998.hp1 NA18999.hp2 NA19010.hp2 NA19070.hp2 NA19081.hp1 NA19085.hp2 NA19091.hp1	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0005 a0002c0006 a0002c0007 others(2): Show a0002c0005 a0002c0006 a0002c0007 a0005c0013 a0018c0053	a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 others(2): Show a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0005c0013t0001 a0018c0053t0001	a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0225 others(22): Show a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0225 a0002c0005t0001g0236 a0002c0005t0001g0315 a0002c0006t0001g0229 a0002c0007t0001g0022 a0002c0007t0001g0222 a0002c0007t0001g0226 a0002c0007t0001g0227 a0002c0007t0001g0228 a0002c0007t0001g0230 a0002c0007t0001g0231 a0002c0007t0001g0233 a0002c0007t0001g0234 a0002c0007t0001g0235 a0002c0007t0001g0237 a0002c0007t0001g0333 a0002c0007t0001g0334 a0002c0007t0001g0335 a0002c0007t0001g0336 a0002c0007t0001g0337 a0005c0013t0001g0131 a0005c0013t0001g0232 a0018c0053t0001g0238	26	376	0.0692	-24	c.430 others(39): Show c.430-161_430-138delGTGAGCTCTGATTGCGCCACTGCA	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	3/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241140198	TGGCGCAA others(17): Show TGGCGCAATCAGAGCTCACTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(102): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0006 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0025 a0026 a0027	a0001c0002 a0001c0014 a0001c0015 others(27): Show a0001c0002 a0001c0014 a0001c0015 a0001c0017 a0001c0022 a0001c0024 a0001c0025 a0001c0031 a0001c0056 a0001c0060 a0001c0062 a0003c0003 a0004c0018 a0004c0057 a0004c0058 a0006c0009 a0006c0033 a0008c0059 a0010c0032 a0010c0055 a0011c0064 a0011c0066 a0012c0035 a0012c0065 a0014c0034 a0016c0047 a0017c0069 a0025c0061 a0026c0067 a0027c0068	a0001c0002t0002 a0001c0014t0002 a0001c0014t0005 others(29): Show a0001c0002t0002 a0001c0014t0002 a0001c0014t0005 a0001c0015t0002 a0001c0017t0002 a0001c0022t0002 a0001c0024t0004 a0001c0025t0002 a0001c0031t0002 a0001c0056t0004 a0001c0060t0002 a0001c0062t0002 a0003c0003t0002 a0004c0018t0002 a0004c0057t0013 a0004c0058t0002 a0006c0009t0003 a0006c0009t0016 a0006c0033t0009 a0008c0059t0014 a0010c0032t0002 a0010c0055t0004 a0011c0064t0002 a0011c0066t0006 a0012c0035t0002 a0012c0065t0002 a0014c0034t0002 a0016c0047t0002 a0017c0069t0003 a0025c0061t0002 a0026c0067t0002 a0027c0068t0002	a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0014t0002g0303 others(96): Show a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0014t0002g0303 a0001c0014t0002g0306 a0001c0014t0002g0307 a0001c0014t0002g0308 a0001c0014t0002g0312 a0001c0014t0002g0313 a0001c0014t0005g0296 a0001c0014t0005g0304 a0001c0014t0005g0310 a0001c0015t0002g0049 a0001c0015t0002g0062 a0001c0015t0002g0064 a0001c0015t0002g0065 a0001c0015t0002g0081 a0001c0015t0002g0086 a0001c0015t0002g0087 a0001c0015t0002g0166 a0001c0015t0002g0295 a0001c0017t0002g0063 a0001c0017t0002g0068 a0001c0017t0002g0069 a0001c0017t0002g0163 a0001c0017t0002g0330 a0001c0017t0002g0331 a0001c0017t0002g0332 a0001c0022t0002g0299 a0001c0022t0002g0300 a0001c0022t0002g0301 a0001c0024t0004g0028 a0001c0024t0004g0029 a0001c0024t0004g0030 a0001c0025t0002g0070 a0001c0025t0002g0071 a0001c0025t0002g0073 a0001c0031t0002g0309 a0001c0031t0002g0311 a0001c0056t0004g0033 a0001c0060t0002g0292 a0001c0062t0002g0302 a0003c0003t0002g0002 a0003c0003t0002g0046 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0167 a0003c0003t0002g0293 a0003c0003t0002g0294 a0004c0018t0002g0047 a0004c0018t0002g0050 a0004c0018t0002g0058 a0004c0018t0002g0072 a0004c0018t0002g0074 a0004c0057t0013g0032 a0004c0058t0002g0305 a0006c0009t0003g0004 a0006c0009t0003g0009 a0006c0009t0003g0031 a0006c0009t0003g0035 a0006c0009t0003g0036 a0006c0009t0003g0038 a0006c0009t0016g0239 a0006c0033t0009g0040 a0006c0033t0009g0041 a0008c0059t0014g0039 a0010c0032t0002g0043 a0010c0032t0002g0291 a0010c0055t0004g0034 a0011c0064t0002g0325 a0011c0066t0006g0242 a0012c0035t0002g0240 a0012c0035t0002g0241 a0012c0065t0002g0243 a0014c0034t0002g0326 a0014c0034t0002g0327 a0016c0047t0002g0048 a0017c0069t0003g0037 a0025c0061t0002g0314 a0026c0067t0002g0053 a0027c0068t0002g0329	105	376	0.2793	-24	c.430 others(39): Show c.430-167_430-144delGCTGCAGTGAGCTCTGATTGCGCC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	3/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61925199	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0155 a0011c0015t0002g0155	1	158	0.0063	-24	c.357 others(43): Show c.3571-2485_3571-2462delAAAAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62024657	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp2 HG01884.hp1 others(3): Show HG01081.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG02559.hp1 HG03209.hp2	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0020 a0022 a0032	a0001c0001 a0003c0003 a0008c0041 others(3): Show a0001c0001 a0003c0003 a0008c0041 a0020c0127 a0022c0018 a0032c0131	a0001c0001t0001 a0003c0003t0017 a0008c0041t0005 others(3): Show a0001c0001t0001 a0003c0003t0017 a0008c0041t0005 a0020c0127t0008 a0022c0018t0004 a0032c0131t0004	a0001c0001t0001g0019 a0003c0003t0017g0015 a0008c0041t0005g0124 others(3): Show a0001c0001t0001g0019 a0003c0003t0017g0015 a0008c0041t0005g0124 a0020c0127t0008g0024 a0022c0018t0004g0062 a0032c0131t0004g0086	6	158	0.0380	-24	c.395 others(43): Show c.3959+6746_3959+6769delCACACACACACACACACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59672332	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	276	0.0073	-24	c.-34 others(35): Show c.-3461_-3438delCATATATATATATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3296		chr11	TogoVar
PAWR_chr12_79579879_79695964	79613967	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0139 a0001c0003t0008g0139	1	256	0.0039	-24	c.649 others(39): Show c.649-382_649-359delAAAAAAAAAAAATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632296	CATATATA others(17): Show CATATATATATACATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0079 a0001c0003t0003g0079	1	256	0.0039	-24	c.517 others(43): Show c.517-11113_517-11090delATATATATGTATGTATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638880	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0159 a0003c0004t0009g0159	1	256	0.0039	-24	c.517 others(43): Show c.517-17697_517-17674delAAAAAAAATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21718483	ACTGGCAC others(17): Show ACTGGCACAAGCATTTTTTTAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	-24	c.39 others(35): Show c.3922_*3945delCTGGCACAAGCATTTTTTTAAACC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721309	TATATATT others(17): Show TATATATTATATATGTATATAATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	400	0.0025	-24	c.67 others(35): Show c.6748_*6771delATATATTATATATGTATATAATAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2829		chr20	TogoVar
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03704.hp2 HG02922.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0295 a0001c0001t0001g0095 a0001c0001t0003g0295	2	328	0.0061	-24	c.117 others(43): Show c.1174-7530_1174-7507delTTTTTTTTTTTTTTTTTTTTTTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222299317	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00621.hp1 others(75): Show HG00099.hp2 HG00140.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18959.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19065.hp2 NA19067.hp2 NA19082.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(75): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0003g0225 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0261 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0004g0232 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0269 a0001c0001t0004g0279 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0319 a0001c0001t0004g0324 a0001c0001t0006g0234 a0001c0001t0006g0241	78	328	0.2378	-24	c.-72 others(33): Show c.-726_-703delCACACACACACACACACACACACA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding		320		chr2	TogoVar
PAX5_chr9_36828269_37039268	36870091	GATGGATG others(17): Show GATGGATGGATGGATGGATGGATAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01099.hp1 others(17): Show HG00438.hp1 HG00609.hp1 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01496.hp2 HG01891.hp2 HG02717.hp1 HG02735.hp2 HG02896.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03834.hp1 NA18952.hp2 NA18960.hp1 NA18965.hp2 NA18981.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0049 a0001c0001t0066 a0001c0001t0094 a0001c0001t0114 a0001c0002t0027 a0001c0002t0060 a0001c0002t0085 a0001c0002t0087 a0001c0004t0014	a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0002g0084 others(17): Show a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0002g0084 a0001c0001t0002g0164 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0003g0047 a0001c0001t0013g0124 a0001c0001t0019g0083 a0001c0001t0049g0011 a0001c0001t0066g0055 a0001c0001t0094g0190 a0001c0001t0114g0262 a0001c0002t0027g0256 a0001c0002t0060g0023 a0001c0002t0085g0155 a0001c0002t0087g0202 a0001c0004t0014g0169	20	274	0.0730	-24	c.101 others(45): Show c.1012+11889_1012+11912delTTATCCATCCATCCATCCATCCAT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31794418	CACCACAC others(17): Show CACCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	376	0.0027	-24	c.724 others(39): Show c.724+188_724+211delTGTGTGTGTGTGTGTGTGTGTGGT	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAX6_chr11_31784026_31816322	31794420	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01168.hp1 others(39): Show HG00609.hp1 HG00639.hp1 HG01168.hp1 HG01496.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03540.hp2 NA18906.hp2 NA18950.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18995.hp1 NA19007.hp2 NA19012.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0120 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0197 a0001c0001t0001g0236 a0001c0001t0002g0104 a0001c0001t0002g0122 a0001c0001t0002g0186 a0001c0001t0002g0215 a0001c0001t0003g0143 a0001c0001t0003g0157 a0001c0001t0003g0158 a0002c0003t0001g0133	42	376	0.1117	-24	c.724 others(39): Show c.724+186_724+209delTGTGTGTGTGTGTGTGTGTGTGTG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAX7_chr1_18625846_18753866	18694461	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01515.hp2 HG01517.hp2 others(4): Show HG01167.hp2 HG01515.hp2 HG01517.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0057 a0001c0001t0001 a0001c0001t0002 a0001c0001t0057	a0001c0001t0001g0275 a0001c0001t0002g0068 a0001c0001t0002g0069 others(4): Show a0001c0001t0001g0275 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0057g0070	7	302	0.0232	-24	c.786 others(41): Show c.786+2534_786+2557delAATAAATAAATAAATAAATAAATA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX8_chr2_113210997_113283921	113255241	AGGGGAGG others(17): Show AGGGGAGGAGGGAGGGAGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	300	0.0033	-24	c.26- others(39): Show c.26-8346_26-8323delCTCCCTCCTCCCTCCCTCCTCCCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113255253	AGGGAGGA others(17): Show AGGGAGGAGGGAGGGGAGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp1 others(47): Show HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG04228.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0003 a0001c0004t0007	a0001c0001t0001g0244 a0001c0001t0002g0006 a0001c0001t0002g0012 others(42): Show a0001c0001t0001g0244 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0003g0238 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0007g0241 a0001c0001t0009g0031 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0016g0033 a0001c0001t0025g0246 a0001c0001t0027g0083 a0001c0001t0029g0070 a0001c0001t0032g0037 a0001c0001t0033g0239 a0001c0001t0034g0245 a0001c0003t0003g0126 a0001c0004t0007g0251	50	300	0.1667	-24	c.26- others(39): Show c.26-8358_26-8335delCTCCCTCCTCCCCTCCCTCCTCCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113255264	AGGGGAGG others(17): Show AGGGGAGGAGGGAGGGGAGGAGGGA	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0029 a0001c0001t0021g0029	1	300	0.0033	-24	c.26- others(39): Show c.26-8369_26-8346delTCCCTCCTCCCCTCCCTCCTCCCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PBLD_chr10_68277660_68337928	68319053	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	364	0.0028	-24	c.-59 others(43): Show c.-59-12174_-59-12151delTTCTTTCTTTCTTTCTTTCTTTCT	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBOV1_chr6_138210986_138223491	138215873	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGAAAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0009 a0000c0002t0009	a0000c0002t0009g0000 a0000c0002t0009g0000	1	384	0.0026	-24	c.20 others(35): Show c.2091_*2114delTCTCTCTTTCACACACACACACAC	PBOV1	ENSG00000254440.3	transcript	ENST00000527246.3	protein_coding		112		chr6	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA20129.hp1 HG02896.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0267 a0001c0003t0001g0265 a0001c0003t0001g0267	2	300	0.0067	-24	c.282 others(43): Show c.2824+7061_2824+7084delTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(104): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0176 a0001c0001t0002g0019 a0001c0001t0002g0020 others(104): Show a0001c0001t0001g0176 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0172 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0099 a0001c0001t0007g0130 a0001c0001t0008g0043 a0001c0001t0008g0054 a0001c0001t0008g0089 a0001c0001t0008g0109 a0001c0001t0008g0116 a0001c0001t0015g0052 a0001c0001t0017g0111	107	294	0.3640	-24	c.843 others(41): Show c.843+7769_843+7792delAAAAAAAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125970229	ATGTATGT others(17): Show ATGTATGTGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014 a0002c0005t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(147): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0172 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0007g0090 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0130 a0001c0001t0008g0035 a0001c0001t0008g0043 a0001c0001t0008g0054 a0001c0001t0008g0089 a0001c0001t0008g0109 a0001c0001t0008g0116 a0001c0001t0015g0052 a0001c0001t0017g0111 a0001c0002t0003g0142 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0013g0134 a0001c0002t0014g0151 a0002c0005t0002g0037	150	294	0.5102	-24	c.43 others(35): Show c.4307_*4330delTGTATGTGTGTGTGTGTGTGTGTG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding		2853		chr9	TogoVar
PCBP3_chr21_45638725_45947450	45669799	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	292	0.0034	-24	c.-20 others(41): Show c.-200+849_-200+872delGTGTGTATATATATATATATATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45669803	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01243.hp2 others(1): Show HG00544.hp2 HG00741.hp1 HG01243.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0019 others(1): Show a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0019 a0001c0002t0006g0006	4	292	0.0137	-24	c.-20 others(41): Show c.-200+853_-200+876delGTATATATATATATATATATATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45784373	TCTACCTC others(17): Show TCTACCTCTACCTCTACCTCTACCG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	292	0.0034	-24	c.-12 others(45): Show c.-126+28933_-126+28956delTCTACCTCTACCGCTACCTCTACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100263847	ATATATAT others(17): Show ATATATATATGGTATCTGTATATCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	174	0.0058	-24	c.819 others(41): Show c.819+1037_819+1060delATCGTATATATATGGTATCTGTAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100263982	CATATATA others(17): Show CATATATACGGTATCTGTATATCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00639.hp2 others(54): Show HG00408.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp2 HG02559.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp1 NA18959.hp2 NA18968.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA19064.hp2 NA19081.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0005c0009 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0010t0001 a0002c0003t0001 a0005c0009t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0003g0055 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0152 a0001c0002t0001g0082 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0010t0001g0060 a0002c0003t0001g0063 a0002c0003t0001g0064 a0005c0009t0001g0101 a0006c0006t0001g0166 a0007c0007t0001g0167	57	174	0.3276	-24	c.819 others(41): Show c.819+1279_819+1302delCGGTATCTGTATATCGTATATATA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100264110	CGGTATCT others(17): Show CGGTATCTGTATATCGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02886.hp2 others(5): Show HG02486.hp1 HG02559.hp1 HG02886.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0084 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0002g0076 a0001c0001t0002g0171 a0001c0001t0004g0121 a0001c0002t0001g0102	8	174	0.0460	-24	c.819 others(41): Show c.819+1326_819+1349delATGGTATCTGTATATCGTATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100264240	ATCATATA others(17): Show ATCATATATATGTGATATCTGTATC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01361.hp2 HG02258.hp2 others(7): Show HG00621.hp1 HG01361.hp2 HG02258.hp2 HG02723.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp2 HG04199.hp2 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0096 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0002g0174	10	174	0.0575	-24	c.819 others(41): Show c.819+1422_819+1445delGATATCTGTATCTCATATATATGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298652	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	174	0.0058	-24	c.106 others(43): Show c.1066-2804_1066-2781delCTCCCTCCCTCCCTCCCTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298656	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02572.hp2 NA18984.hp1 HG00621.hp2 HG02572.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0091	3	174	0.0172	-24	c.106 others(43): Show c.1066-2800_1066-2777delCTCCCTCCCTCCCTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298660	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp1 HG01071.hp2 others(21): Show HG00597.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG02055.hp2 HG02886.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18945.hp1 NA18947.hp1 NA18956.hp1 NA18983.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0173	24	174	0.1379	-24	c.106 others(43): Show c.1066-2796_1066-2773delCTCCCTCCCTCCTTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298664	CTCCCTCC others(17): Show CTCCCTCCCTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	174	0.0058	-24	c.106 others(43): Show c.1066-2792_1066-2769delCTCCCTCCTTCCTTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298720	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCTTCCTTCCG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	174	0.0058	-24	c.106 others(43): Show c.1066-2728_1066-2705delTTCCTTCCTTCCGTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100440156	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02886.hp1 others(9): Show HG01884.hp2 HG02257.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp2 HG03654.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0066 a0001c0002t0001g0082 a0001c0002t0001g0106 a0003c0005t0002g0018	12	174	0.0690	-24	c.184 others(43): Show c.1846-9065_1846-9042delTATATATATATATATATATATATA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100458294	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01517.hp1 others(3): Show HG01071.hp2 HG01074.hp2 HG01517.hp1 HG03688.hp2 HG03834.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151	6	174	0.0345	-24	c.189 others(43): Show c.1899+9017_1899+9040delCACACACACACACACACACACACA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100458419	GCGCGCAC others(17): Show GCGCGCACACACACACACACATACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02818.hp2 others(4): Show HG02055.hp1 HG02145.hp2 HG02818.hp2 HG03540.hp1 HG03942.hp2 HG04184.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0003 a0006c0006 others(1): Show a0001c0001 a0002c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0002c0003t0001 a0006c0006t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0135 a0002c0003t0001g0118 a0006c0006t0001g0166 a0007c0007t0001g0167	7	174	0.0402	-24	c.189 others(43): Show c.1899+9116_1899+9139delGCGCACACACACACACACATACAC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136268098	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	300	0.0033	-24	c.543 others(41): Show c.543+6053_543+6076delATATGTATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299732	ATGTGTAT others(17): Show ATGTGTATGTATAGGTATGCATGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	300	0.0033	-24	c.885 others(41): Show c.885-1272_885-1249delGTGTATGTATAGGTATGCATGTGT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136310618	TAGAAAGT others(17): Show TAGAAAGTAAACAAAACACACAAGA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	300	0.0033	-24	c.967 others(41): Show c.967-6321_967-6298delGAAAGTAAACAAAACACACAAGAA	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92077622	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02451.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0047 a0001c0001t0005g0075 a0001c0001t0001g0047 a0001c0001t0005g0075	2	154	0.0130	-24	c.303 others(47): Show c.3034-123728_3034-123705delAGGAAGGAAGGAAGGAAGGAAG GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92094133	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0148	1	154	0.0065	-24	c.303 others(47): Show c.3034-107222_3034-107199delGTGTGTGTGTGTGTGTGTGTGT GT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148057	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18994.hp1 HG01081.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0064 a0001c0001t0003g0092 a0001c0001t0001g0064 a0001c0001t0003g0092	2	154	0.0130	-24	c.303 others(45): Show c.3034-53265_3034-53242delCTTTCTTTCTTTCTTTCTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92484116	ATAGTATA others(17): Show ATAGTATATATATGTATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	154	0.0065	-24	c.336 others(45): Show c.3367+15795_3367+15818delTAGTATATATATGTATATATGTAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10			chrX	TogoVar

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