JoGo: Joint Open Genome and Omics Platform

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
PTK2B_chr8_27320552_27464386	27405035	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG01123.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0003g0184 a0002c0005t0001g0197 a0001c0001t0003g0184 a0002c0005t0001g0197	2	328	0.0061	30	c.204 others(47): Show c.204+7252_204+7281dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414606	C C	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0317 a0002c0006t0002g0317	1	328	0.0031	30	c.205 others(47): Show c.205-5288_205-5287insCTGTGTGTGTGTGTGTGTATGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(66): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18999.hp1 NA19007.hp1 NA19068.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0008 a0001c0009 a0001c0010 others(9): Show a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0022 a0001c0030 a0002c0003 a0002c0004 a0002c0006 a0002c0031 a0005c0016 a0009c0019	a0001c0008t0003 a0001c0009t0002 a0001c0010t0003 others(11): Show a0001c0008t0003 a0001c0009t0002 a0001c0010t0003 a0001c0012t0004 a0001c0022t0002 a0001c0030t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0004t0002 a0002c0006t0001 a0002c0031t0001 a0005c0016t0002 a0009c0019t0002	a0001c0008t0003g0314 a0001c0008t0003g0315 a0001c0009t0002g0103 others(65): Show a0001c0008t0003g0314 a0001c0008t0003g0315 a0001c0009t0002g0103 a0001c0010t0003g0289 a0001c0012t0004g0030 a0001c0012t0004g0211 a0001c0022t0002g0008 a0001c0030t0002g0007 a0002c0003t0002g0004 a0002c0003t0002g0055 a0002c0003t0002g0067 a0002c0003t0002g0180 a0002c0003t0002g0236 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0247 a0002c0003t0002g0249 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0260 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0269 a0002c0003t0002g0271 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0321 a0002c0003t0004g0272 a0002c0003t0006g0044 a0002c0004t0002g0094 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0101 a0002c0004t0002g0104 a0002c0004t0002g0107 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0141 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0215 a0002c0004t0002g0224 a0002c0004t0002g0225 a0002c0004t0002g0242 a0002c0004t0002g0244 a0002c0004t0002g0245 a0002c0004t0002g0246 a0002c0004t0002g0248 a0002c0004t0002g0250 a0002c0004t0002g0298 a0002c0006t0001g0062 a0002c0006t0001g0063 a0002c0006t0001g0092 a0002c0006t0001g0234 a0002c0006t0001g0286 a0002c0006t0001g0290 a0002c0006t0001g0291 a0002c0006t0001g0323 a0002c0031t0001g0156 a0005c0016t0002g0105 a0009c0019t0002g0102	69	328	0.2104	30	c.205 others(47): Show c.205-5274_205-5273insGTGTATGTGTGTGTGTTTGTGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG02109.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0243 a0001c0008t0003g0295 a0001c0008t0003g0243 a0001c0008t0003g0295	2	328	0.0061	30	c.205 others(47): Show c.205-5274_205-5273insGTGTGTGTGTGTGTGTTTGTGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	141000086	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	290	0.0035	30	c.-12 others(49): Show c.-122+1038_-122+1039insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18951.hp2 NA18990.hp2 others(1): Show HG03139.hp1 NA18951.hp2 NA18990.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0256 a0001c0001t0001g0257 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0003t0001g0255	4	290	0.0138	30	c.-12 others(49): Show c.-122+1008_-122+1037dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK6_chr20_63523001_63542376	63540396	G G	GGGCTCAG others(23): Show GGGCTCAGGGTTCCTCACCCAGAGCCTCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0071 a0001c0003t0011g0071	1	344	0.0029	30	c.-31 others(41): Show c.-3112_-3083dupTCGGAGGCTCTGGGTGAGGAACCCTGAGCC	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding		3021		chr20	TogoVar
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0078	1	272	0.0037	30	c.272 others(49): Show c.2721+4118_2721+4119insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	272	0.0037	30	c.272 others(49): Show c.2722-1452_2722-1451insATATATATATATATATATTTTTTTTT TTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	296	0.0034	30	c.-2+ others(47): Show c.-2+19005_-2+19006insATATATATATATATATATATATATTTTT TT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77537203	A A	AGGCGGCG others(23): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 NA20805.hp1 HG00280.hp2 HG01358.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	310	0.0097	30	c.-34 others(39): Show c.-344_-343insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		91		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCGCGCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	310	0.0032	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCGCGCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCGCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0088 a0002c0002t0001g0089	2	310	0.0065	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	310	0.0032	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCTCTCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	272	0.0037	30	c.-15 others(51): Show c.-155+31117_-155+31118insATATATATATATATATATATTTTT TTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0103 a0001c0002t0006g0103	1	272	0.0037	30	c.-15 others(51): Show c.-155+31117_-155+31118insATATATATATATATATATATATTT TTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(23): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0216 a0006c0009t0011g0216	1	380	0.0026	30	c.414 others(47): Show c.414+1893_414+1894insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0202 a0009c0013t0004g0202	1	380	0.0026	30	c.414 others(47): Show c.414+1884_414+1913dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361532	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0192 a0002c0002t0021g0192	1	380	0.0026	30	c.414 others(47): Show c.414+1888_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361536	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0193 a0002c0002t0016g0193	1	380	0.0026	30	c.414 others(47): Show c.414+1891_414+1920dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	336	0.0030	30	c.63+ others(47): Show c.63+14004_63+14005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	370	0.0027	30	c.859 others(47): Show c.859-5436_859-5435insATATATATATTTTTTTTTTTTTTTTTTT TT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876296	A A	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03017.hp1 HG03486.hp1 others(6): Show HG02723.hp1 HG03017.hp1 HG03486.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp2 NA18906.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0172 a0001c0001t0001g0204 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0081 a0001c0001t0005g0079	9	370	0.0243	30	c.69+ others(45): Show c.69+7776_69+7777insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN3_chr9_109370700_109503307	109408794	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGGGCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	290	0.0035	30	c.157 others(47): Show c.1579-418_1579-417insAAAGCCCATATATATATATATATATATA TA	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	16/25			chr9	TogoVar
PTPN4_chr2_119754922_119989899	119845253	G G	GGAGGGAG others(23): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02698.hp2 HG02738.hp2 others(1): Show HG02630.hp2 HG02698.hp2 HG02738.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0025 a0001c0001t0002 a0001c0001t0014 a0001c0001t0025	a0001c0001t0002g0170 a0001c0001t0002g0238 a0001c0001t0014g0239 others(1): Show a0001c0001t0002g0170 a0001c0001t0002g0238 a0001c0001t0014g0239 a0001c0001t0025g0195	4	252	0.0159	30	c.139 others(49): Show c.139-17278_139-17277insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN5_chr11_18722928_18796798	18746162	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	388	0.0026	30	c.98- others(45): Show c.98-1993_98-1964dupATATATATATATATATATATATATATATAT	PTPN5	ENSG00000110786.18	transcript	ENST00000358540.7	protein_coding	3/14			chr11	TogoVar
PTPN9_chr15_75458251_75584315	75530555	T T	TTATATAT others(23): Show TTATATATTATTATATTATAATATACTATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01928.hp1 HG02965.hp1 others(2): Show HG01884.hp2 HG01928.hp1 HG02965.hp1 NA19030.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0221 a0001c0001t0002g0290 a0001c0001t0007g0177 others(2): Show a0001c0001t0002g0221 a0001c0001t0002g0290 a0001c0001t0007g0177 a0001c0001t0008g0209 a0001c0001t0008g0211	5	326	0.0153	30	c.64- others(45): Show c.64-3324_64-3295dupTTATAGTATATTATAATATAATAATATATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530713	A A	ATATAATA others(23): Show ATATAATATACTATTATATATATTATTATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01978.hp2 others(23): Show HG00733.hp1 HG00735.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02630.hp1 HG02683.hp1 HG02965.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18960.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18994.hp2 NA19012.hp2 NA19030.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 a0001c0001t0049	a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0290 others(23): Show a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0290 a0001c0001t0004g0045 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0034g0191 a0001c0001t0049g0326	26	326	0.0798	30	c.64- others(45): Show c.64-3453_64-3452insATATAATAATATATATAATAGTATATTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530714	T T	TATAATAT others(23): Show TATAATATACTATTATATATATTATTATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	326	0.0031	30	c.64- others(45): Show c.64-3454_64-3453insTATATAATAATATATATAATAGTATATTAT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	326	0.0031	30	c.64- others(47): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910317	A A	ATATATAT others(23): Show ATATATATTTTATATAATATATTTTGTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0147 a0001c0007t0001g0147	1	356	0.0028	30	c.-12 others(51): Show c.-128-12875_-128-12874insATATATTTTGTATATTATATATTT TATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9947367	A A	ATATATTA others(23): Show ATATATTATATATAATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0005 a0001c0017t0002g0005	1	34	0.0294	30	c.-47 others(49): Show c.-471-8758_-471-8757insATATATATTATATATATTATATATAA TATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10031647	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 NA21309.hp1 HG01109.hp1 HG01243.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0014 a0001c0002 a0001c0004 a0001c0014	a0001c0002t0015 a0001c0004t0003 a0001c0014t0025 a0001c0002t0015 a0001c0004t0003 a0001c0014t0025	a0001c0002t0015g0010 a0001c0004t0003g0001 a0001c0014t0025g0033 a0001c0002t0015g0010 a0001c0004t0003g0001 a0001c0014t0025g0033	3	34	0.0882	30	c.-47 others(49): Show c.-472+2070_-472+2071insGTGTGTGTGTGTGTATATATATATAT ATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10323202	T T	TCCCTCCC others(23): Show TCCCTCCCCTCCCCTCCCCTTCCCTTCTCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	34	0.0294	30	c.-54 others(51): Show c.-545+17731_-545+17760dupGAGAGAAGGGAAGGGGAGGGGAGG GGAGGG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10323264	C C	CCTCCCCT others(23): Show CCTCCCCTCCCCTCCCCTCCCCTTCCCTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0003 a0003c0008t0008g0003	1	34	0.0294	30	c.-54 others(51): Show c.-545+17698_-545+17699insAGAAGGGAAGGGGAGGGGAGGGGA GGGGAG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10509557	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0014 a0001c0013t0012g0014	1	34	0.0294	30	c.-60 others(53): Show c.-600+102840_-600+102841insTATATATATATATATATATATA TATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRE_chr10_127902103_128090855	128010545	C C	CCTTTTCT others(23): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp1 HG03041.hp1 others(1): Show HG00609.hp2 HG01891.hp1 HG03041.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0036	a0001c0001t0003g0064 a0001c0001t0005g0243 a0001c0001t0015g0135 others(1): Show a0001c0001t0003g0064 a0001c0001t0005g0243 a0001c0001t0015g0135 a0001c0001t0036g0024	4	304	0.0132	30	c.-8+ others(47): Show c.-8+28269_-8+28298dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRE_chr10_127902103_128090855	128010590	T T	TCTTTTCT others(23): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0042 a0001c0001t0038g0042	1	304	0.0033	30	c.-8+ others(47): Show c.-8+28298_-8+28299insTCTTTTCTTTTCTTTTCTTTTCTTTCCT TT	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRE_chr10_127902103_128090855	128067189	T T	TGTGCACA others(23): Show TGTGCACACACATACACCCACACACATTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG03017.hp2 HG00642.hp1 HG00738.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0087 a0001c0001t0013g0046 a0001c0001t0013g0276 a0001c0001t0010g0087 a0001c0001t0013g0046 a0001c0001t0013g0276	3	304	0.0099	30	c.844 others(45): Show c.844-933_844-904dupGTGCACACACATACACCCACACACATTCAC	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61621033	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	94	0.0106	30	c.85+ others(47): Show c.85+58662_85+58663insGTATATATATATATATATATATATATAT AT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	94	0.0106	30	c.85+ others(47): Show c.85+58680_85+58681insATATATATATATATATATATATGTGTGT GT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(23): Show ATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03239.hp1 HG03669.hp1 HG01243.hp1 HG03239.hp1 HG03669.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0012 a0002c0002 a0003c0012	a0002c0002t0002 a0002c0002t0011 a0003c0012t0012 a0002c0002t0002 a0002c0002t0011 a0003c0012t0012	a0002c0002t0002g0078 a0002c0002t0011g0056 a0003c0012t0012g0049 a0002c0002t0002g0078 a0002c0002t0011g0056 a0003c0012t0012g0049	3	94	0.0319	30	c.85+ others(47): Show c.85+58680_85+58681insATATATATATATATGTGTGTGTGTGTGT GT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(23): Show ATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	94	0.0106	30	c.85+ others(47): Show c.85+58680_85+58681insATATATATATATGTGTGTGTGTGTGTGT GT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0016 a0002c0003t0008g0016	1	94	0.0106	30	c.265 others(49): Show c.2657-1513_2657-1484dupACACACACACACACACACACACACAC ACAC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	94	0.0106	30	c.265 others(49): Show c.2657-1513_2657-1512insTACACACACACACACACACACACACA CACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19087.hp2 HG02145.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0001t0001g0045 a0001c0001t0001g0090	2	94	0.0213	30	c.376 others(45): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48159122	G G	GGGGTGTG others(23): Show GGGGTGTGTGTGTCTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0206 a0001c0005t0004g0206	1	216	0.0046	30	c.343 others(47): Show c.3439-807_3439-806insGGTGTGTGTGTCTGTGTGTGTGTGTGTG TG	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128322685	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0029	1	53	0.0189	30	c.224 others(45): Show c.224-376_224-375insGTATATATATATATATATATATATATATAT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	2/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	7772244	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	80	0.0125	30	c.74- others(45): Show c.74-1891_74-1862dupTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7984950	T T	TATATAAT others(23): Show TATATAATTATATACATATAATTATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG01891.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0058 a0001c0003t0001g0019 a0001c0001t0001g0058 a0001c0003t0001g0019	2	80	0.0250	30	c.113 others(51): Show c.1132+29559_1132+29588dupATATATACATATAATTATATACAT ATAATT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar

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