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
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	362	0.0028	29	c.184 others(46): Show c.1844-678_1844-677insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	64037971	G G	GGGGACCG others(22): Show GGGGACCGCGCCAAGCCGCGCCTATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	294	0.0034	29	c.49 others(40): Show c.4978_*4979insGGGACCGCGCCAAGCCGCGCCTATTCCCC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding		4872		chr20	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	392	0.0026	29	c.582 others(44): Show c.582-989_582-988insATATATATATATATATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG01074.hp1 HG01255.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0092 a0002c0003t0003g0336 a0001c0001t0001g0092 a0002c0003t0003g0336	2	392	0.0051	29	c.582 others(44): Show c.582-989_582-988insATATATATATATATATATATATATATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPS1L1_chr7_18021770_18032846	18030627	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	29	c.-28 others(40): Show c.-2846_-2845insATATATATATATATATATATATATATATA	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2782	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPSAP2_chr17_18853131_18936287	18914914	G G	GGCATTCC others(22): Show GGCATTCCACCATGTTGGCCAGGTTGGTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	392	0.0026	29	c.733 others(46): Show c.733+3664_733+3692dupGCATTCCACCATGTTGGCCAGGTTGGTC T	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	316	0.0032	29	c.79 others(40): Show c.7922_*7923insATATATATATATATATATTTTTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	316	0.0032	29	c.79 others(40): Show c.7922_*7923insATATATATATATATATATATTTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR5_chr22_44697204_44742681	44742345	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0112 a0001c0001t0030g0112	1	442	0.0023	29	c.50 others(40): Show c.5098_*5099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		4665		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01361.hp1 others(2): Show HG00642.hp1 HG00735.hp2 HG01361.hp1 HG01515.hp2 NA18970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0005c0044 a0001c0001 a0005c0005 a0005c0044	a0001c0001t0001 a0005c0005t0001 a0005c0044t0021 a0001c0001t0001 a0005c0005t0001 a0005c0044t0021	a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0176 a0005c0005t0001g0095 a0005c0044t0021g0200	5	216	0.0232	29	c.-51 others(46): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT T	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18971.hp2 HG04228.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0001 a0001c0046t0001 a0001c0001t0001 a0001c0046t0001	a0001c0001t0001g0157 a0001c0046t0001g0177 a0001c0001t0001g0157 a0001c0046t0001g0177	2	216	0.0093	29	c.-51 others(46): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTTTTT T	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420496	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0204 a0005c0005t0002g0204	1	216	0.0046	29	c.-51 others(46): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31			chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	216	0.0046	29	c.112 others(46): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	356	0.0028	29	c.241 others(46): Show c.241+4967_241+4995dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS55_chr8_10520532_10543819	10543472	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0011 a0004c0008t0001g0011	1	480	0.0021	29	c.46 others(40): Show c.4679_*4680insTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4654		chr8	TogoVar
PRSS57_chr19_680546_700452	698488	G G	GTGGCGAT others(22): Show GTGGCGATCTGTCGCCAGGCTGGAGTGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(45): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00673.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp1 HG04204.hp1 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18949.hp2 NA18950.hp2 NA18956.hp2 NA18972.hp1 NA18991.hp1 NA18997.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19074.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0006c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0002g0015 a0002c0003t0001g0149 a0006c0014t0001g0050	48	442	0.1086	29	c.-30 others(40): Show c.-3059_-3058insTTGCACTCCAGCCTGGCGACAGATCGCCA	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		3037		chr19	TogoVar
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(22): Show CTCTTTCTTTCTTTCTTTCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02074.hp1 NA18943.hp1 others(1): Show HG00733.hp2 HG02074.hp1 NA18943.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0242 a0001c0001t0004g0252 others(1): Show a0001c0001t0004g0205 a0001c0001t0004g0242 a0001c0001t0004g0252 a0001c0001t0004g0253	4	338	0.0118	29	c.340 others(46): Show c.340-8751_340-8750insAAGAAAAGAAAGAAAGAAAGAAAGAAAG A	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0261 a0001c0001t0043g0260 a0001c0001t0002g0261 a0001c0001t0043g0260	2	284	0.0070	29	c.204 others(48): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(22): Show TATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02647.hp1 others(5): Show HG00642.hp2 HG01891.hp1 HG02647.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1	a0005 a0006 a0018 others(3): Show a0005 a0006 a0018 a0020 a0036 a0038	a0005c0005 a0006c0009 a0018c0022 others(3): Show a0005c0005 a0006c0009 a0018c0022 a0020c0058 a0036c0038 a0038c0052	a0005c0005t0002 a0006c0009t0005 a0006c0009t0011 others(5): Show a0005c0005t0002 a0006c0009t0005 a0006c0009t0011 a0006c0009t0016 a0018c0022t0012 a0020c0058t0032 a0036c0038t0005 a0038c0052t0002	a0005c0005t0002g0012 a0006c0009t0005g0188 a0006c0009t0011g0009 others(5): Show a0005c0005t0002g0012 a0006c0009t0005g0188 a0006c0009t0011g0009 a0006c0009t0016g0100 a0018c0022t0012g0004 a0020c0058t0032g0171 a0036c0038t0005g0039 a0038c0052t0002g0097	8	240	0.0333	29	c.756 others(48): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAATAAATA AAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	T T	TATACTGC others(22): Show TATACTGCACCAATTATCATTGGTACAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00642.hp2 others(32): Show HG00408.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18950.hp2 NA18955.hp2 NA18959.hp1 NA18981.hp1 NA18988.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0013 a0025 a0026 a0028 a0035 a0036 a0039	a0001c0001 a0001c0032 a0002c0002 others(13): Show a0001c0001 a0001c0032 a0002c0002 a0003c0003 a0004c0004 a0004c0029 a0005c0005 a0006c0007 a0008c0008 a0013c0020 a0025c0048 a0026c0042 a0028c0047 a0035c0027 a0036c0038 a0039c0055	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0032t0001 a0002c0002t0001 a0003c0003t0004 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0004c0029t0001 a0005c0005t0001 a0005c0005t0019 a0006c0007t0001 a0008c0008t0013 a0013c0020t0008 a0013c0020t0014 a0025c0048t0001 a0026c0042t0001 a0028c0047t0004 a0035c0027t0003 a0036c0038t0005 a0039c0055t0004	a0001c0001t0001g0138 a0001c0001t0001g0205 a0001c0001t0001g0216 others(32): Show a0001c0001t0001g0138 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0003g0192 a0001c0001t0003g0217 a0001c0001t0010g0066 a0001c0001t0010g0221 a0001c0001t0020g0237 a0001c0032t0001g0065 a0002c0002t0001g0047 a0003c0003t0004g0124 a0004c0004t0001g0086 a0004c0004t0001g0133 a0004c0004t0001g0222 a0004c0004t0002g0043 a0004c0004t0002g0093 a0004c0004t0002g0163 a0004c0004t0002g0196 a0004c0004t0007g0074 a0004c0029t0001g0078 a0005c0005t0001g0182 a0005c0005t0001g0235 a0005c0005t0019g0234 a0006c0007t0001g0052 a0006c0007t0001g0068 a0008c0008t0013g0198 a0008c0008t0013g0201 a0013c0020t0008g0002 a0013c0020t0014g0028 a0025c0048t0001g0057 a0026c0042t0001g0111 a0028c0047t0004g0120 a0035c0027t0003g0210 a0036c0038t0005g0039 a0039c0055t0004g0170	35	240	0.1458	29	c.756 others(48): Show c.756+32395_756+32423dupTATTGTACCAATGATAATTGGTGCAG TAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791454	T T	TATCATTG others(22): Show TATCATTGGTACAATAATACTGCACCAATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0005 a0011c0018t0005	a0011c0018t0005g0148 a0011c0018t0005g0148	1	240	0.0042	29	c.756 others(48): Show c.756+32177_756+32178insCATTGGTGCAGTATTATTGTACCAAT GAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	240	0.0042	29	c.37- others(46): Show c.37-25696_37-25695insATATATATATATATATATATATATATAT A	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0022 a0017c0016t0022	a0017c0016t0022g0005 a0017c0016t0022g0005	1	240	0.0042	29	c.37- others(46): Show c.37-25696_37-25695insAAAAAAAAAAATATATATATATATATAT A	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(22): Show CTTATATATCATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG03654.hp1 HG03834.hp1 HG01978.hp2 HG03654.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0077 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0077	3	300	0.0100	29	c.-18 others(40): Show c.-1889_-1888insTTATATATCATATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSD3_chr8_18522303_19018703	18594129	A A	ATATTATT others(22): Show ATATTATTATATATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	228	0.0044	29	c.248 others(48): Show c.2481+6234_2481+6235insATATATTATATAATATATATATAATA ATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	228	0.0044	29	c.22- others(46): Show c.22-13103_22-13102insATATATATATATATATATATATTTTTTT T	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0126 a0004c0009t0003g0126	1	228	0.0044	29	c.22- others(46): Show c.22-13103_22-13102insATATATATATATATATATATATATTTTT T	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0035 a0004c0006t0008g0035	1	228	0.0044	29	c.22- others(46): Show c.22-13103_22-13102insATATATATATATATATATATATATATTT T	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	378	0.0027	29	c.87+ others(44): Show c.87+3789_87+3790insATATATATATATATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03041.hp1 NA18988.hp2 HG02135.hp2 HG03041.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0122 a0001c0001t0001g0123 a0002c0002t0003g0106 a0001c0001t0001g0122 a0001c0001t0001g0123 a0002c0002t0003g0106	3	430	0.0070	29	c.430 others(46): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	416	0.0024	29	c.430 others(46): Show c.430+2096_430+2097insAAAAAAAAATATATATATATATATATAT A	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42940995	T T	TAGTTTTT others(22): Show TAGTTTTTTATATTATCTGGACATGAAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0010 a0001c0010t0004g0010	1	416	0.0024	29	c.-39 others(40): Show c.-3920_-3919insGGTTTCATGTCCAGATAATATAAAAAACT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding		3789		chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501867	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	300	0.0033	29	c.149 others(46): Show c.149+4693_149+4694insATATATATATATATATATATATATATAT A	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMD12_chr17_67332916_67371577	67334575	A A	AAAAAAAA others(22): Show AAAAAAAAAAAACAAAAAAACAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0075 a0001c0001t0006g0033 a0001c0001t0002g0075 a0001c0001t0006g0033	2	398	0.0050	29	c.62 others(40): Show c.6267_*6268insGTTTTTTTTGTTTTTTTGTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3340		chr17	TogoVar
PSMD12_chr17_67332916_67371577	67334602	A A	AAAAAAAA others(22): Show AAAAAAAAAAAACAAAAAAACAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0328 a0001c0002t0004g0328	1	398	0.0025	29	c.62 others(40): Show c.6240_*6241insGTTTTTTTTGTTTTTTTGTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3313		chr17	TogoVar
PSMD12_chr17_67332916_67371577	67334603	C C	CAAAAAAA others(22): Show CAAAAAAAAAACAAAAAAACAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp2 others(30): Show HG00099.hp1 HG00280.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01517.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02976.hp1 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18986.hp1 NA19043.hp2 NA19055.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0026	a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0023 others(25): Show a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0023 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0324 a0001c0002t0004g0331 a0001c0002t0004g0336 a0001c0002t0004g0339 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0004g0343 a0001c0002t0004g0345 a0001c0002t0004g0354 a0001c0002t0004g0355 a0001c0002t0004g0356 a0001c0002t0005g0296 a0001c0002t0005g0325 a0001c0002t0005g0335 a0001c0002t0015g0329 a0001c0002t0015g0330 a0001c0002t0015g0332 a0001c0002t0015g0350 a0001c0002t0019g0333 a0001c0002t0019g0344 a0001c0002t0022g0334 a0001c0002t0026g0347	33	398	0.0829	29	c.62 others(40): Show c.6239_*6240insTGTTTTTTTTGTTTTTTTGTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3312		chr17	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp2 HG02056.hp2 others(3): Show HG00673.hp1 HG01192.hp2 HG02056.hp2 HG02135.hp1 HG04115.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0257	6	268	0.0224	29	c.49- others(46): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02809.hp1 NA18747.hp2 HG00423.hp2 HG02809.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0013 a0001c0001t0002g0074 a0001c0001t0001g0142 a0001c0001t0002g0013 a0001c0001t0002g0074	3	268	0.0112	29	c.571 others(46): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19080.hp2 HG01358.hp1 NA19080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0315 a0001c0005t0001g0323 a0001c0005t0001g0315 a0001c0005t0001g0323	2	384	0.0052	29	c.481 others(46): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53904620	C C	CATATTTT others(22): Show CATATTTTTGACCCAAACAAAATATTCAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0113 a0002c0003t0002g0113	1	384	0.0026	29	c.294 others(46): Show c.2944-493_2944-465dupACTGAATATTTTGTTTGGGTCAAAAATA T	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	26/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0039 a0001c0001t0065g0039	1	326	0.0031	29	c.366 others(46): Show c.366-1551_366-1550insATATATATATATATATATATATATTTTT T	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133570	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	326	0.0031	29	c.366 others(46): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT A	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	412	0.0024	29	c.174 others(46): Show c.174+1096_174+1097insATATATATATATATATTTTTTTTTTTTT T	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPH_chr7_56006064_56056444	56013006	T T	TTATATAT others(22): Show TTATATATATACACACATATACTATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp1 others(94): Show HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013	a0001c0001t0002g0366 a0001c0001t0003g0014 a0001c0001t0003g0015 others(91): Show a0001c0001t0002g0366 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0004g0332 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0354 a0001c0001t0007g0369 a0001c0001t0007g0370 a0001c0001t0007g0371 a0001c0001t0009g0278 a0001c0001t0009g0291 a0001c0001t0013g0358	97	392	0.2475	29	c.571 others(46): Show c.571-1166_571-1138dupCATATATAGTATATGTGTGTATATATAT A	PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	7/7			chr7	TogoVar
PSPH_chr7_56006064_56056444	56013044	T T	TACACACA others(22): Show TACACACATATACTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0315 a0001c0001t0003g0315	1	392	0.0026	29	c.571 others(46): Show c.571-1176_571-1175insGTATATATACATATATAGTATATGTGTG T	PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	7/7			chr7	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp1 NA18941.hp2 others(3): Show HG00438.hp1 HG02083.hp1 NA18941.hp2 NA18977.hp2 NA18991.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0290 a0001c0002t0001g0332 others(3): Show a0001c0002t0001g0275 a0001c0002t0001g0290 a0001c0002t0001g0332 a0001c0002t0001g0337 a0001c0002t0001g0339 a0001c0002t0001g0353	6	364	0.0165	29	c.905 others(46): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01255.hp2 others(4): Show HG00733.hp2 HG00735.hp2 HG01255.hp2 HG02155.hp2 HG03927.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0305 a0001c0001t0002g0129 a0001c0001t0002g0183 others(4): Show a0001c0001t0001g0305 a0001c0001t0002g0129 a0001c0001t0002g0183 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0250	7	342	0.0205	29	c.802 others(46): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	342	0.0029	29	c.-52 others(48): Show c.-52+13178_-52+13179insATATATATATATATATATATATATAT ATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0053 a0001c0008t0007g0053	1	380	0.0026	29	c.-20 others(40): Show c.-2010_-2009insAAATATATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0038 a0001c0012t0038	a0001c0012t0038g0155 a0001c0012t0038g0155	1	380	0.0026	29	c.-20 others(40): Show c.-2010_-2009insAAAAAAAAATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar

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Search Results (Total: 6085 hits)