Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0100 a0001c0001t0084g0100	1	364	0.0028	39	c.49 others(48): Show c.498_*499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3				499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARK7_chr1_7956711_7990505	7990498	T T	TCACCACC others(32): Show TCACCACCACCACCACCATCACCACCACCATCACCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	370	0.0027	39	c.54 others(50): Show c.5444_*5445insCACCACCACCACCACCATCACCACCACCATCACC TTCAC		PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding					4994		chr1	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	358	0.0028	39	c.125 others(56): Show c.125+2499_125+2500insATAAATATATATATATATATATATATAT ATATATATATA		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	169	0.0059	39	c.148 others(60): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23						chr16	TogoVar
PARP10_chr8_143972158_143991460	143973602	T T	TGCCCCAC others(32): Show TGCCCCACGGGCGGGGCGGGGCCGGGGCCGCCGCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19064.hp1 NA19007.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0002 a0001c0001t0001g0115	2	380	0.0053	39	c.38 others(50): Show c.3881_*3882insGGGGCCGCGGCGGCCCCGGCCCCGCCCCGCCCGT GGGGC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding					3555		chr8	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	316	0.0032	39	c.175 others(56): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5						chr15	TogoVar
PARP9_chr3_122522924_122569300	122539568	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0136 a0002c0007t0001g0136	1	436	0.0023	39	c.176 others(56): Show c.1765+903_1765+904insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA		PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10						chr3	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTCCTCC others(32): Show TCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0326 a0001c0011t0035g0326	1	332	0.0030	39	c.113 others(58): Show c.113-27113_113-27112insTCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(32): Show TCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(50): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG01261.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02976.hp1 HG03654.hp2 HG03942.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0003c0006 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0048 a0001c0002t0001 a0001c0002t0007 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0063 a0001c0013t0005 a0003c0006t0006 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 others(50): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0199 a0001c0001t0001g0220 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0002g0219 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0003g0247 a0001c0001t0004g0035 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0223 a0001c0001t0005g0268 a0001c0001t0007g0215 a0001c0001t0007g0238 a0001c0001t0007g0265 a0001c0001t0008g0013 a0001c0001t0008g0027 a0001c0001t0008g0034 a0001c0001t0008g0231 a0001c0001t0018g0007 a0001c0001t0023g0205 a0001c0001t0024g0181 a0001c0001t0038g0292 a0001c0001t0048g0308 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0001g0299 a0001c0002t0007g0002 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0003g0287 a0001c0004t0005g0098 a0001c0004t0063g0213 a0001c0013t0005g0246 a0003c0006t0006g0136 a0011c0010t0031g0179	53	332	0.1596	39	c.113 others(58): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTCCTCCTCCT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(32): Show TCTTCTCCTCCTCCTCCTTCTCTTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19081.hp2 HG02074.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0064 a0001c0001t0002 a0001c0001t0064	a0001c0001t0002g0216 a0001c0001t0064g0225 a0001c0001t0002g0216 a0001c0001t0064g0225	2	332	0.0060	39	c.113 others(58): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCTTCCTCC TCCTCCTCCTCCT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PATJ_chr1_61737480_62168915	61952279	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0140 a0010c0025t0001g0140	1	158	0.0063	39	c.367 others(60): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAG		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43						chr1	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(32): Show TATTCCTATTCCTATTCCTATTCCTATTCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	256	0.0039	39	c.517 others(58): Show c.517-18675_517-18674insGGAATGGAATGGAATAGGAATAGGAA TAGGAATAGGAAT		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	300	0.0033	39	c.108 others(58): Show c.1088-1943_1088-1942insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PCBP3_chr21_45638725_45947450	45815189	G G	GGTGAGTG others(32): Show GGTGAGTGGTGAGTGGTGAGTGGTGAGTGGTGAGTGATGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	292	0.0034	39	c.-12 others(60): Show c.-125-34758_-125-34757insGTGAGTGGTGAGTGGTGAGTGATG AGTGAGTGGTGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815947	A A	ATGAGTGA others(32): Show ATGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	292	0.0034	39	c.-12 others(60): Show c.-125-33997_-125-33959dupAGTGAGTGATGAGTGGTGAGTGGT GAGTGAGTGGTGAGT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45852398	C C	CTTTTGTT others(32): Show CTTTTGTTCAGAAGGAACACAGCCCTGCAGCCATGCTGAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(60): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp2 NA18941.hp2 NA18946.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18983.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 others(60): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0263 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0018g0266 a0001c0001t0019g0224	63	292	0.2158	39	c.10+ others(54): Show c.10+2335_10+2336insTGCTGATTTTTGTTCAGAAGGAACACAGCC CTGCAGCCA		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45852398	C C	CTTTTGTT others(32): Show CTTTTGTTCAGAAGGCACACAGCCCTGCAGCCATGCTGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(46): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01891.hp1 HG01975.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18998.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0004t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(46): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0231 a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0079 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0009g0009 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0022g0216 a0001c0004t0002g0086 a0001c0004t0002g0087	49	292	0.1678	39	c.10+ others(54): Show c.10+2317_10+2318insCACACAGCCCTGCAGCCATGCTGATTTTTG TTCAGAAGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCB_chr3_136245340_136335169	136329074	T T	TAACACCA others(32): Show TAACACCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCAAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	300	0.0033	39	c.149 others(56): Show c.1498+217_1498+218insAACACCACCCCCCCCCCCCCCCCCCCCC CCCCCCCCAAC		PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	14/14						chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92147806	C C	CCTTTCTT others(32): Show CCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	154	0.0065	39	c.303 others(60): Show c.3034-53566_3034-53565insTCTTTCTTTCTTTTCTTTCTTTCT TTTTCTTTCTTTCTT		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02451.hp1 others(4): Show HG00673.hp1 HG02040.hp1 HG02451.hp1 HG03041.hp2 NA18962.hp1 NA18994.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0010t0001	a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0002g0154 a0001c0001t0003g0092 a0001c0001t0024g0014 a0001c0010t0001g0105	7	154	0.0455	39	c.314 others(60): Show c.3145-56455_3145-56417dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	54697655	A A	AGGAAGGA others(32): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGGAAGGGGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA18906.hp2 HG02145.hp2 HG02922.hp1 NA18906.hp2	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0003c0003 a0022c0028 a0001c0001 a0003c0003 a0022c0028	a0001c0001t0003 a0003c0003t0001 a0022c0028t0004 a0001c0001t0003 a0003c0003t0001 a0022c0028t0004	a0001c0001t0003g0087 a0003c0003t0001g0009 a0022c0028t0004g0013 a0001c0001t0003g0087 a0003c0003t0001g0009 a0022c0028t0004g0013	3	102	0.0294	39	c.-28 others(58): Show c.-28-33366_-28-33365insCCTTCCCCCTTCCCCTTCCTTCCTTC CTTCCTTCCTTCC		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54697655	A A	AGGAAGGA others(32): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGGAAGGGGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 NA18906.hp2 HG02145.hp1 HG02922.hp1 NA18906.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0007 a0003c0003 a0018c0034 a0001c0007 a0003c0003 a0018c0034	a0001c0007t0001 a0003c0003t0001 a0018c0034t0003 a0001c0007t0001 a0003c0003t0001 a0018c0034t0003	a0001c0007t0001g0079 a0003c0003t0001g0009 a0018c0034t0003g0013 a0001c0007t0001g0079 a0003c0003t0001g0009 a0018c0034t0003g0013	3	94	0.0319	39	c.-28 others(58): Show c.-28-33366_-28-33365insCCTTCCCCCTTCCCCTTCCTTCCTTC CTTCCTTCCTTCC		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54697655	A A	AGGAAGGG others(32): Show AGGAAGGGGAAGGGGGAAGGGGAAGGGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	94	0.0106	39	c.-28 others(58): Show c.-28-33366_-28-33365insCCCTTCCCCTTCCCCCTTCCCCTTCC CCCTTCCCCTTCC		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32						chr10	TogoVar
PCDH18_chr4_137513918_137537494	137517489	A A	ATTTATTT others(32): Show ATTTATTTTTTTTATTTTATTTTATTTTATTTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02145.hp2 HG02818.hp2 others(1): Show HG01069.hp1 HG02145.hp2 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0028 a0001c0001t0003g0053 a0001c0001t0015g0126 a0001c0001t0003g0028 a0001c0001t0003g0053 a0001c0001t0015g0126	4	406	0.0099	39	c.35 others(50): Show c.3539_*3540insATAAAATAAAATAAAATAAAATAAAATAAAAAAA ATAAA		PCDH18	ENSG00000189184.12	transcript	ENST00000344876.9	protein_coding					1428		chr4	TogoVar
PCDH7_chr4_30715369_31151800	30716893	A A	AAGCAGCA others(32): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0030	a0001c0005t0030g0104 a0001c0005t0030g0104	1	214	0.0047	39	c.-45 others(50): Show c.-4530_-4529insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGC		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding					3475		chr4	TogoVar
PCDHGA1_chr5_141325514_141517975	141347176	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0228 a0001c0002t0005g0228	1	268	0.0037	39	c.242 others(60): Show c.2421+14076_2421+14077insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTT		PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141347176	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0162 a0003c0003t0004g0162	1	272	0.0037	39	c.242 others(58): Show c.2424+5786_2424+5787insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTT		PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141347176	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	270	0.0037	39	c.242 others(56): Show c.2424+724_2424+725insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTT		PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141347176	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0212 a0004c0008t0004g0212	1	278	0.0036	39	c.-30 others(50): Show c.-3085_-3084insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC		PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding					2922		chr5	TogoVar
PCED1B_chr12_47074621_47241660	47217470	G G	GAAAAAGA others(32): Show GAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18961.hp2 HG00609.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0304 a0001c0001t0002g0286 a0001c0001t0001g0304 a0001c0001t0002g0286	2	322	0.0062	39	c.-58 others(54): Show c.-58+782_-58+783insAAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AGAAAGAAA		PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCLAF_chr15_64359304_64386441	64362768	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0276 a0001c0001t0018g0276	1	298	0.0034	39	c.32 others(50): Show c.3261_*3262insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding					1535		chr15	TogoVar
PCLO_chr7_82749012_83167884	83134242	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0025 a0025	a0025c0012 a0025c0012	a0025c0012t0001 a0025c0012t0001	a0025c0012t0001g0154 a0025c0012t0001g0154	1	188	0.0053	39	c.330 others(52): Show c.3300+7_3300+8insTATATATATATATATATATATATATATATATA TATATAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCMT1_chr6_149744741_149816419	149763054	C C	CTATGATA others(32): Show CTATGATATATATATCTATGATATGTATATCTATGATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp2 HG01261.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0084 a0002c0002t0002g0068 a0002c0002t0002g0084	2	334	0.0060	39	c.56- others(54): Show c.56-8045_56-8007dupGTATATCTATGATATATATGATATATATAT CTATGATAT		PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNT_chr21_46319156_46450769	46334557	G G	GTGGGATG others(32): Show GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00597.hp1 HG00735.hp2 others(23): Show HG00140.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01243.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18949.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0006 a0007 a0019 others(2): Show a0006 a0007 a0019 a0028 a0029	a0006c0006 a0006c0017 a0006c0027 others(4): Show a0006c0006 a0006c0017 a0006c0027 a0007c0005 a0019c0028 a0028c0040 a0029c0039	a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 others(4): Show a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 a0007c0005t0001 a0019c0028t0001 a0028c0040t0001 a0029c0039t0001	a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 others(23): Show a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0014 a0006c0017t0001g0020 a0006c0017t0001g0022 a0006c0027t0001g0017 a0006c0027t0001g0018 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0019c0028t0001g0327 a0019c0028t0001g0328 a0028c0040t0001g0012 a0029c0039t0001g0011	26	332	0.0783	39	c.467 others(46): Show c.467_505dupATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAG C	p.His others(13): Show p.His156_Gln168dup	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	3/47	579/10526	506/10011	169/3336		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46334627	A A	AGAACAGC others(32): Show AGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG02818.hp2	a0066 a0066	a0066c0086 a0066c0086	a0066c0086t0001 a0066c0086t0001	a0066c0086t0001g0068 a0066c0086t0001g0068	1	332	0.0030	39	c.519 others(46): Show c.519_520insGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCAC A	p.Val others(13): Show p.Val161_Thr173dup	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	3/47	593/10526	520/10011	174/3336		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70910058	T T	TCCCCCCC others(32): Show TCCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG01243.hp1 others(9): Show HG00642.hp1 HG01175.hp1 HG01243.hp1 HG02683.hp1 HG02717.hp1 HG02970.hp2 HG03834.hp1 NA18972.hp2 NA18983.hp1 NA18990.hp1 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0053	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 others(9): Show a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0004g0175 a0001c0001t0004g0178 a0001c0001t0008g0173 a0001c0001t0010g0172 a0001c0001t0010g0177 a0001c0001t0027g0191 a0001c0001t0053g0174	12	352	0.0341	39	c.153 others(56): Show c.153+2057_153+2058insCCCCCCTCCTCCCCCTCCTCCCCCTCCT CCTCCTCCCCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910064	C C	CCCCCCTC others(32): Show CCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	352	0.0028	39	c.153 others(56): Show c.153+2063_153+2064insCCCTCCTCCCCCTCCTCCCCCTCCTCCT CCTCCCCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910064	C C	CCCTCCTC others(32): Show CCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG03669.hp2 others(1): Show HG01256.hp1 HG01361.hp1 HG03669.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0236 a0001c0001t0004g0240 a0001c0001t0010g0237 others(1): Show a0001c0001t0001g0236 a0001c0001t0004g0240 a0001c0001t0010g0237 a0001c0001t0010g0238	4	352	0.0114	39	c.153 others(56): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCCTCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910067	T T	TCCTCCCC others(32): Show TCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	352	0.0028	39	c.153 others(56): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCCCCTCCTCCT CCTCCCCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910112	T T	TCCTCCTC others(32): Show TCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp2 HG02132.hp1 others(1): Show HG00558.hp2 HG02074.hp2 HG02132.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0043 a0001c0001t0020 a0001c0001t0043	a0001c0001t0020g0022 a0001c0001t0020g0024 a0001c0001t0020g0025 others(1): Show a0001c0001t0020g0022 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0043g0023	4	352	0.0114	39	c.153 others(56): Show c.153+2120_153+2121insTCCTCCCCCTCCTCCTCCTCCTCCTCCC CCTCCTCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK2_chr20_17222040_17489578	17303450	T T	TATATTAT others(32): Show TATATTATATATAATAAATATATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18949.hp1 HG02129.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0054 a0001c0001t0013g0233 a0001c0001t0004g0054 a0001c0001t0013g0233	2	274	0.0073	39	c.282 others(58): Show c.282+43106_282+43107insATATTATATATAATAAATATATATAT ATTATATATAATA		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11						chr20	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(32): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20129.hp2 HG00741.hp1 NA20129.hp2	a0002 a0009 a0002 a0009	a0002c0094 a0009c0078 a0002c0094 a0009c0078	a0002c0094t0025 a0009c0078t0001 a0002c0094t0025 a0009c0078t0001	a0002c0094t0025g0090 a0009c0078t0001g0007 a0002c0094t0025g0090 a0009c0078t0001g0007	2	166	0.0121	39	c.506 others(56): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37						chr9	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA19065.hp1 HG02015.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	372	0.0054	39	c.13 others(50): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTC		PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding					381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0065 a0001c0002t0003 a0001c0002t0065	a0001c0002t0003g0181 a0001c0002t0065g0170 a0001c0002t0003g0181 a0001c0002t0065g0170	2	260	0.0077	39	c.117 others(56): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATTTTTTTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	260	0.0039	39	c.117 others(56): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATTTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	260	0.0039	39	c.117 others(56): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG02132.hp1 others(6): Show HG00558.hp2 HG01192.hp1 HG02132.hp1 NA18945.hp1 NA19002.hp2 NA19056.hp1 NA19063.hp1 NA19081.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0025 a0001c0001t0040 a0001c0001t0049 a0003c0003t0002	a0001c0001t0001g0049 a0001c0001t0002g0047 a0001c0001t0008g0114 others(6): Show a0001c0001t0001g0049 a0001c0001t0002g0047 a0001c0001t0008g0114 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0025g0048 a0001c0001t0040g0046 a0001c0001t0049g0050 a0003c0003t0002g0045	9	260	0.0346	39	c.117 others(56): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	274	0.0037	39	c.-18 others(50): Show c.-1842_-1841insAAAAAAAAAAAAATATATATATATATATATATAT ATATA		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding					1553		chr11	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATGCATGCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	2	404	0.0050	39	c.-25 others(56): Show c.-25+5064_-25+5065insATGCATGCATATATATATATATATATAT ATATTTTTTTT		PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3						chr1	TogoVar
PDE1A_chr2_182135041_182432036	182179819	T T	TAATGAAC others(32): Show TAATGAACCTTATTTTTAAGAGGGTGAAGTAGATAATAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	264	0.0038	39	c.151 others(58): Show c.1516+6034_1516+6072dupTTTATTATCTACTTCACCCTCTTAAA AATAAGGTTCATT		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	13/14						chr2	TogoVar

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