Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSMB2_chr1_35594541_35646526	35628592	A A	AATTATAT others(12): Show AATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	300	0.0033	19	c.285 others(36): Show c.285+2681_285+2682insATATATATATATATATAAT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628594	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18968.hp2 HG01496.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0174 a0001c0001t0003g0206 a0001c0001t0001g0174 a0001c0001t0003g0206	2	300	0.0067	19	c.285 others(36): Show c.285+2679_285+2680insATATATATATATATATATA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	300	0.0033	19	c.285 others(36): Show c.285+2677_285+2678insATATTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	300	0.0033	19	c.285 others(36): Show c.285+2677_285+2678insATATATTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMC1_chr14_90251553_90280429	90280225	G G	GCCAGTCC others(12): Show GCCAGTCCTTCTCAACCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0035 a0001c0001t0047g0035	2	390	0.0051	19	c.78 others(30): Show c.7818_*7819insCCAGTCCTTCTCAACCGTT	PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding		4797		chr14	TogoVar
PSMC2_chr7_103342643_103374395	103364984	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	382	0.0026	19	c.756 others(34): Show c.756+677_756+678insATATATATATATATATATA	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	8/11			chr7	TogoVar
PSMD13_chr11_231976_257984	240101	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19011.hp1 NA18970.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0351 a0002c0002t0001g0352	2	450	0.0044	19	c.174 others(36): Show c.174+1034_174+1052dupTTTTTTTTTTTTTTTTTTT	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01515.hp2 HG02040.hp2 others(22): Show HG00438.hp2 HG01515.hp2 HG02040.hp2 HG02083.hp1 HG02683.hp1 HG03831.hp1 HG03927.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18975.hp1 NA18984.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp1 NA19056.hp2 NA19058.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0117 a0001c0001t0001g0120 others(22): Show a0001c0001t0001g0010 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179	25	268	0.0933	19	c.49- others(36): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(12): Show GTTGTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02056.hp2 HG01978.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0231 a0001c0001t0002g0107 a0001c0001t0001g0231 a0001c0001t0002g0107	2	268	0.0075	19	c.571 others(36): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04228.hp1 NA19070.hp2 HG00140.hp2 HG04228.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0195 a0001c0001t0001g0250 a0001c0001t0001g0256	3	268	0.0112	19	c.571 others(36): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	268	0.0037	19	c.571 others(36): Show c.571-1210_571-1192dupTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02129.hp1 HG02976.hp1 others(6): Show HG02083.hp1 HG02129.hp1 HG02976.hp1 HG03209.hp2 HG03831.hp2 HG03834.hp2 NA18951.hp2 NA19060.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0002t0001g0196	9	420	0.0214	19	c.-35 others(30): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19077.hp2 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	2	398	0.0050	19	c.454 others(36): Show c.454-1331_454-1313dupTTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53873238	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02280.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0175 a0001c0006t0003g0371 a0001c0006t0003g0175 a0001c0006t0003g0371	2	384	0.0052	19	c.510 others(38): Show c.5100+1100_5100+1101insTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02922.hp1 HG02970.hp1 HG02040.hp1 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0201 a0001c0001t0006g0202 a0001c0001t0013g0037 a0001c0001t0001g0201 a0001c0001t0006g0202 a0001c0001t0013g0037	3	326	0.0092	19	c.366 others(36): Show c.366-1551_366-1550insATATATATATATATATTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	326	0.0031	19	c.366 others(36): Show c.366-1551_366-1550insATATATATATATATTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSORS1C2_chr6_31132534_31144066	31138732	C C	CGTTAATC others(12): Show CGTTAATCCTGACCGACTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	461	0.0022	19	c.55+ others(32): Show c.55+221_55+239dupAAAGTCGGTCAGGATTAAC	PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding	1/1			chr6	TogoVar
PTBP2_chr1_96716784_96820049	96775073	T T	TCTTCTCC others(12): Show TCTTCTCCTAAAAGCTATCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	364	0.0028	19	c.433 others(36): Show c.433-2510_433-2492dupTTCTCCTAAAAGCTATCCC	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791827	T T	TTTTTTTT others(12): Show TTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02622.hp2 others(15): Show HG02109.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 others(14): Show a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0346 a0001c0002t0005g0002 a0001c0002t0005g0249 a0001c0002t0005g0250 a0001c0002t0005g0251 a0001c0002t0005g0252 a0001c0002t0005g0253	18	364	0.0495	19	c.904 others(36): Show c.904+6580_904+6581insGTTTTTTTTTTGTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791827	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0258 a0001c0002t0005g0258	1	364	0.0028	19	c.904 others(36): Show c.904+6591_904+6592insGTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02897.hp2 HG02027.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0320 a0001c0002t0008g0262 a0001c0002t0001g0320 a0001c0002t0008g0262	2	364	0.0055	19	c.905 others(36): Show c.905-5505_905-5487dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19011.hp2 NA18978.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0002t0001g0191 a0001c0001t0001g0093 a0001c0002t0001g0191	2	342	0.0059	19	c.802 others(36): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112302582	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	342	0.0029	19	c.-51 others(36): Show c.-51-4685_-51-4667dupAAAAAAAAAAAAAAAAAAA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	342	0.0029	19	c.-52 others(38): Show c.-52+13178_-52+13179insATATATATATATATTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	342	0.0029	19	c.-52 others(38): Show c.-52+13155_-52+13156insATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 NA18980.hp2 HG02055.hp2 HG02559.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0111 a0001c0001t0001g0212 a0001c0001t0001g0215	3	342	0.0088	19	c.-52 others(38): Show c.-52+13155_-52+13156insAAATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02165.hp1 HG01993.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0145 a0001c0001t0006g0217 a0001c0001t0001g0145 a0001c0001t0006g0217	2	342	0.0059	19	c.-52 others(38): Show c.-52+13155_-52+13156insAAAAATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA19012.hp1 NA19078.hp2 NA18982.hp1 NA19012.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0003 a0001c0002t0002g0007	3	380	0.0079	19	c.-20 others(30): Show c.-2010_-2009insAAAAAAATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18949.hp2 NA18980.hp2 others(3): Show NA18944.hp1 NA18949.hp2 NA18980.hp2 NA19004.hp1 NA19057.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0017 others(1): Show a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0017 a0001c0002t0017g0251	6	380	0.0158	19	c.-20 others(30): Show c.-2010_-2009insAAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02622.hp1 NA18997.hp2 others(2): Show HG00280.hp1 HG02622.hp1 NA18997.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0031 a0001c0002t0002 a0001c0002t0031	a0001c0002t0002g0002 a0001c0002t0002g0175 a0001c0002t0002g0176 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0205 a0001c0002t0031g0207	5	380	0.0132	19	c.-20 others(30): Show c.-2010_-2009insAAAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03516.hp2 HG04115.hp1 others(2): Show HG00438.hp1 HG03516.hp2 HG04115.hp1 NA19067.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 others(2): Show a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0178 a0001c0002t0002g0201	5	380	0.0132	19	c.-20 others(30): Show c.-2010_-2009insAAAAAAAAAAAAATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH1_chr9_95437980_95514266	95452357	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0254 a0001c0003t0042g0254	1	284	0.0035	19	c.344 others(38): Show c.3449+1120_3449+1121insGTGTGTGTGTGTGTGTGTG	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	20/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95452357	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0253 a0001c0003t0031g0253	1	278	0.0036	19	c.344 others(38): Show c.3446+1120_3446+1121insGTGTGTGTGTGTGTGTGTG	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	20/23			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG02523.hp2 others(7): Show HG00280.hp1 HG00408.hp2 HG02523.hp2 HG02922.hp1 NA18956.hp1 NA18960.hp1 NA18975.hp1 NA18992.hp2 NA19011.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0019 a0002c0004 a0001c0003 a0001c0019 a0002c0004	a0001c0003t0001 a0001c0019t0001 a0002c0004t0001 a0001c0003t0001 a0001c0019t0001 a0002c0004t0001	a0001c0003t0001g0041 a0001c0003t0001g0164 a0001c0003t0001g0185 others(6): Show a0001c0003t0001g0041 a0001c0003t0001g0164 a0001c0003t0001g0185 a0001c0003t0001g0192 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0205 a0001c0019t0001g0198 a0002c0004t0001g0189	10	370	0.0270	19	c.813 others(34): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23342310	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0142 a0001c0002t0004g0142	1	297	0.0034	19	c.351 others(36): Show c.351+7085_351+7086insATATATATATATATATATT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTEN_chr10_87858625_87976930	87858636	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0300 a0001c0001t0031g0300	1	322	0.0031	19	c.-58 others(30): Show c.-5834_-5833insAAAAAAAAAAAAAAAAAAA	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4988		chr10	TogoVar
PTER_chr10_16432010_16518745	16478800	A A	AGCCACAA others(12): Show AGCCACAAGCCGATTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0051 a0001c0002t0011g0051	1	378	0.0027	19	c.-48 others(36): Show c.-48-5536_-48-5518dupGCCACAAGCCGATTTTTTT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTGDS_chr9_136972504_136986742	136984956	C C	CGGCCCCT others(12): Show CGGCCCCTCCCTGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG02559.hp2 others(7): Show HG01074.hp2 HG01109.hp1 HG02559.hp2 HG02572.hp2 HG02886.hp1 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060	10	382	0.0262	19	c.33 others(30): Show c.3378_*3379insGGCCCCTCCCTGCCCCTCT	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding		3215		chr9	TogoVar
PTGER1_chr19_14467466_14480354	14470944	T T	TGCCTCAA others(12): Show TGCCTCAAGGGCCTCGTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02559.hp2 others(19): Show HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0007c0013 a0002c0002 a0002c0005 a0007c0013	a0002c0002t0001 a0002c0005t0001 a0007c0013t0001 a0002c0002t0001 a0002c0005t0001 a0007c0013t0001	a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0018 others(2): Show a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0005t0001g0019 a0007c0013t0001g0030	22	408	0.0539	19	c.15 others(30): Show c.1597_*1615dupGCAACGAGGCCCTTGAGGC	PTGER1	ENSG00000160951.4	transcript	ENST00000292513.4	protein_coding		1521		chr19	TogoVar
PTGER3_chr1_70965782_71052816	70996639	T T	TTTTTTAA others(12): Show TTTTTTAATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	372	0.0027	19	c.107 others(40): Show c.1077+15665_1077+15666insTAAATAAATAAATTAAAAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTGER4_chr5_40674915_40698735	40697226	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	19	c.48 others(30): Show c.4848_*4849insAAGAAAGAAAGAAAGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp1 NA19081.hp1 HG02809.hp1 NA19043.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0061 a0001c0001t0001g0164 a0001c0001t0001g0175	3	372	0.0081	19	c.3-1 others(32): Show c.3-1779_3-1761dupTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01981.hp2 HG01256.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0035 a0001c0001t0001g0086	2	372	0.0054	19	c.2+4 others(32): Show c.2+4506_2+4524dupTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGIR_chr19_46615468_46630089	46616326	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0003 a0003	a0003c0006 a0003c0007 a0003c0006 a0003c0007	a0003c0006t0006 a0003c0007t0010 a0003c0006t0006 a0003c0007t0010	a0003c0006t0006g0017 a0003c0007t0010g0034 a0003c0006t0006g0017 a0003c0007t0010g0034	2	420	0.0048	19	c.49 others(30): Show c.4953_*4954insAAAAAAAAAAAAAAAAAAA	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		4141		chr19	TogoVar
PTGIS_chr20_49498874_49573137	49568119	C C	CGGGGCTG others(12): Show CGGGGCTGGCGGGGCTGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0006	1	316	0.0032	19	c.-4_ others(24): Show c.-4_-3insCGCCAGCCCCGCCAGCCCC	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	1/10	4		chr20	TogoVar
PTGR2_chr14_73846831_73890726	73882800	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0215 a0001c0002t0005g0215	1	420	0.0024	19	c.979 others(34): Show c.979+382_979+400dupTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73883188	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG03669.hp1 others(1): Show HG02258.hp2 HG03139.hp1 HG03669.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0345 a0001c0001t0004g0064 a0001c0001t0004g0073 others(1): Show a0001c0001t0002g0345 a0001c0001t0004g0064 a0001c0001t0004g0073 a0001c0001t0004g0129	4	420	0.0095	19	c.979 others(34): Show c.979+764_979+782dupTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK2B_chr8_27320552_27464386	27350975	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG01943.hp2 others(3): Show HG01099.hp1 HG01169.hp1 HG01943.hp2 NA18956.hp2 NA18985.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0014 a0001c0001 a0002c0005 a0003c0014	a0001c0001t0003 a0002c0005t0001 a0003c0014t0003 a0001c0001t0003 a0002c0005t0001 a0003c0014t0003	a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0075 others(3): Show a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0075 a0002c0005t0001g0031 a0003c0014t0003g0043 a0003c0014t0003g0061	6	328	0.0183	19	c.-38 others(38): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0320 a0001c0008t0003g0320	1	328	0.0031	19	c.-38 others(38): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405035	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	328	0.0031	19	c.204 others(36): Show c.204+7247_204+7248insTCTCTCTCTCTCTCTCTCT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30			chr8	TogoVar

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