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
PSIP1_chr9_15459066_15515970	15497325	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02145.hp1 others(5): Show HG01109.hp1 HG01109.hp2 HG02145.hp1 HG02723.hp2 HG02809.hp2 HG03195.hp1 HG03225.hp2 HG03704.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0023 a0001c0002t0004 a0001c0002t0024 others(2): Show a0001c0001t0023 a0001c0002t0004 a0001c0002t0024 a0002c0003t0001 a0004c0006t0004	a0001c0001t0023g0020 a0001c0002t0004g0032 a0001c0002t0004g0034 others(5): Show a0001c0001t0023g0020 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0043 a0001c0002t0004g0053 a0001c0002t0024g0249 a0002c0003t0001g0124 a0004c0006t0004g0039	8	300	0.0267	23	c.150 others(40): Show c.150-7202_150-7201insAAAAAAAAAAAAAAAAAAAAAAA	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA7_chr20_62131733_62148394	62146605	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	362	0.0028	23	c.-33 others(34): Show c.-3303_-3302insAAAAAAAAAAAAAAAAAAAAAAA	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		3212		chr20	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0100 a0001c0001t0007g0100	1	300	0.0033	23	c.285 others(40): Show c.285+2677_285+2678insATATATTTTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB4_chr1_151394573_151406937	151406712	A A	AGACAGTG others(16): Show AGACAGTGCCTGGGTTCACAGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	396	0.0025	23	c.48 others(34): Show c.4883_*4884insGACAGTGCCTGGGTTCACAGTAG	PSMB4	ENSG00000159377.11	transcript	ENST00000290541.7	protein_coding		4776		chr1	TogoVar
PSMD11_chr17_32439510_32488319	32468865	G G	GTCTAGAG others(16): Show GTCTAGAGGTAACCTTTTTTGAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02896.hp1 HG01123.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0191 a0001c0001t0009g0192 a0001c0001t0009g0191 a0001c0001t0009g0192	2	290	0.0069	23	c.449 others(38): Show c.449-131_449-109dupTAGAGGTAACCTTTTTTGAGTTC	PSMD11	ENSG00000108671.11	transcript	ENST00000261712.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01081.hp2 others(15): Show HG00140.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG02004.hp2 HG02083.hp1 HG02132.hp1 HG02300.hp1 HG02738.hp1 HG02897.hp1 HG02922.hp2 HG03834.hp2 NA18989.hp1 NA18998.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0136 a0001c0001t0001g0148 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0003g0044 a0001c0001t0003g0097	18	268	0.0672	23	c.571 others(40): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTT	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(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	268	0.0037	23	c.571 others(40): Show c.571-1214_571-1192dupTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD3_chr17_39975807_40002959	39992024	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(64): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03710.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0013 a0001c0001 a0001c0006 a0001c0013	a0001c0001t0002 a0001c0006t0002 a0001c0013t0002 a0001c0001t0002 a0001c0006t0002 a0001c0013t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0013 others(30): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0188 a0001c0006t0002g0022 a0001c0006t0002g0096 a0001c0013t0002g0006	67	418	0.1603	23	c.981 others(40): Show c.981+1836_981+1837insAAAAAAAAAAAAAAAAAAAAAAA	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18956.hp2 NA19002.hp2 HG02165.hp1 NA18956.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0001g0111	3	420	0.0071	23	c.-35 others(34): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD6_chr3_64005551_64028494	64010770	A A	AATAAATT others(16): Show AATAAATTCAAGAAAAAATGAATT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp2 HG02135.hp1 NA18942.hp2 others(2): Show HG02083.hp2 HG02135.hp1 NA18942.hp2 NA18979.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	5	426	0.0117	23	c.107 others(37): Show c.1074-29_1074-7dupAATTCATTTTTTCTTGAATTTAT	PSMD6	ENSG00000163636.11	transcript	ENST00000295901.9	protein_coding	7/7			chr3	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(16): Show TGTGTGTGCGCGCGCGTGGCGCGC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	424	0.0024	23	c.703 others(38): Show c.703-166_703-165insGCGCGTGGCGCGCGTGTGTGCGC	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38387273	C C	CTCGGAGA others(16): Show CTCGGAGACTAGTCAGAAAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	23	c.38 others(34): Show c.3883_*3884insTCGGAGACTAGTCAGAAAAATTT	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		3450		chr19	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0345 a0005c0005t0008g0345	1	398	0.0025	23	c.454 others(40): Show c.454-1335_454-1313dupTTTTTTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME3_chr17_42828397_42848760	42848065	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	264	0.0038	23	c.64 others(34): Show c.6487_*6488insTTTTTTTTTTTTTTTTTTTTTTT	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4306		chr17	TogoVar
PSME4_chr2_53859069_53975993	53876713	A A	ATCCTTTT others(16): Show ATCCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0368 a0015c0028t0001g0368	1	384	0.0026	23	c.481 others(40): Show c.4816-959_4816-958insAAAAAAAAAAAAAAAAAAAAGGA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp1 HG01515.hp2 others(8): Show HG00597.hp1 HG01256.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG03516.hp2 NA18941.hp2 NA18943.hp1 NA18953.hp2 NA18969.hp1 NA18983.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0009 a0004c0008 a0001c0005 a0001c0009 a0004c0008	a0001c0005t0001 a0001c0009t0001 a0004c0008t0001 a0001c0005t0001 a0001c0009t0001 a0004c0008t0001	a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 others(8): Show a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 a0001c0005t0001g0320 a0001c0005t0001g0326 a0001c0005t0001g0343 a0001c0005t0001g0346 a0001c0005t0001g0347 a0001c0005t0001g0372 a0001c0009t0001g0360 a0004c0008t0001g0380	11	384	0.0287	23	c.481 others(40): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01978.hp1 HG01255.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0113 a0001c0001t0003g0114	2	326	0.0061	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATATATATATT	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(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18942.hp2 NA18948.hp2 HG00733.hp2 NA18942.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0043 a0001c0001t0003g0117 a0001c0001t0003g0130	3	326	0.0092	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATATATATTTT	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(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19030.hp1 HG02602.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0200 a0001c0001t0023g0041 a0001c0001t0001g0200 a0001c0001t0023g0041	2	326	0.0061	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATATATTTTTT	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(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0069 a0001c0001t0028g0069	1	326	0.0031	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATATTTTTTTT	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(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0097 a0001c0001t0028g0082 a0001c0001t0001g0097 a0001c0001t0028g0082	2	326	0.0061	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATTTTTTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01515.hp1 others(4): Show HG00733.hp1 HG01069.hp1 HG01515.hp1 HG01978.hp2 HG03654.hp2 HG03704.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0061 a0001c0001t0001 a0001c0001t0022 a0001c0001t0061	a0001c0001t0001g0047 a0001c0001t0001g0127 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0022g0010 a0001c0001t0022g0091 a0001c0001t0061g0126	7	326	0.0215	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATTTTTTTTTTTT	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(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0102 a0001c0001t0027g0102	1	326	0.0031	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATTTTTTTTTTTTTT	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(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	326	0.0031	23	c.366 others(40): Show c.366-1551_366-1550insATATATATATATATATATATATA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	392	0.0026	23	c.-19 others(34): Show c.-1933_-1911dupTTTTTTTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	412	0.0024	23	c.174 others(40): Show c.174+1096_174+1097insATATATATATATATATATTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(16): Show CTTTTTTTTGTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19003.hp2 HG03453.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0308 a0001c0002t0001g0303 a0001c0002t0001g0308	2	364	0.0055	23	c.904 others(40): Show c.904+6580_904+6581insGTTTTTTTTTTTGTTTTTTTTTT	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(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02155.hp2 others(5): Show HG01884.hp2 HG02145.hp2 HG02155.hp2 NA18968.hp1 NA18979.hp1 NA19001.hp2 NA19064.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0313 others(5): Show a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0313 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0334 a0001c0002t0001g0340 a0001c0002t0001g0348	8	364	0.0220	23	c.905 others(40): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112232025	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	342	0.0029	23	c.102 others(38): Show c.1020+73_1020+74insCTTTCTTTCTTTCTTTCTTTCTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01168.hp1 others(16): Show HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01257.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02735.hp2 HG03654.hp1 HG03942.hp2 NA18947.hp2 NA18953.hp2 NA18954.hp2 NA18970.hp2 NA18998.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0033 a0001c0001t0002 a0001c0001t0018 a0001c0001t0033	a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0122 others(16): Show a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0257 a0001c0001t0002g0342 a0001c0001t0018g0330 a0001c0001t0033g0287	19	342	0.0556	23	c.802 others(40): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02818.hp1 HG00140.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0263 a0001c0001t0008g0301 a0001c0001t0001g0263 a0001c0001t0008g0301	2	342	0.0059	23	c.-52 others(42): Show c.-52+13155_-52+13156insAAAAATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0194 a0001c0002t0009g0194	1	380	0.0026	23	c.-20 others(34): Show c.-2010_-2009insAAAAAAAAATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	380	0.0026	23	c.-20 others(34): Show c.-2010_-2009insAAAAAAAAAAATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	380	0.0026	23	c.-20 others(34): Show c.-2010_-2009insAAAAAAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	380	0.0026	23	c.-20 others(34): Show c.-2010_-2009insAAAAAAAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18989.hp2 HG02145.hp1 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0213 a0001c0008t0001g0133 a0001c0002t0001g0213 a0001c0008t0001g0133	2	370	0.0054	23	c.813 others(38): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	47925092	G G	GACATTTT others(16): Show GACATTTTATATATACATATGTAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0135 a0001c0002t0007g0135	1	182	0.0055	23	c.899 others(42): Show c.899-45179_899-45157dupATACATATGTATATATAAAATGT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTDSS1_chr8_96256902_96341995	96280454	A A	AAAGCCTG others(16): Show AAAGCCTGCAGTGAGCTGAGATTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0229 a0001c0001t0014g0229	1	262	0.0038	23	c.272 others(40): Show c.272-3610_272-3588dupTGAAGCCTGCAGTGAGCTGAGAT	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTGDS_chr9_136972504_136986742	136984153	G G	GTGTGCGT others(16): Show GTGTGCGTGTCTATGTGTGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	23	c.25 others(34): Show c.2575_*2576insTGTGCGTGTCTATGTGTGTGTCT	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding		2412		chr9	TogoVar
PTGER2_chr14_52309312_52333598	52325325	G G	GTGGGTTA others(16): Show GTGGGTTATTCTCCCCTGAAAACC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	418	0.0024	23	c.844 others(40): Show c.844-1893_844-1871dupGGTTATTCTCCCCTGAAAACCTG	PTGER2	ENSG00000125384.7	transcript	ENST00000245457.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGER4_chr5_40674915_40698735	40697226	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	23	c.48 others(34): Show c.4848_*4849insAAGAAAGAAAGAAAGAAAGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	372	0.0027	23	c.3-1 others(36): Show c.3-1783_3-1761dupTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGIR_chr19_46615468_46630089	46616326	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0025 a0003c0007t0005g0025	1	420	0.0024	23	c.49 others(34): Show c.4953_*4954insAAAAAAAAAAAAAAAAAAAAAAA	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		4141		chr19	TogoVar
PTGR2_chr14_73846831_73890726	73882800	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0207 a0001c0002t0005g0207	1	420	0.0024	23	c.979 others(38): Show c.979+378_979+400dupTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18947.hp1 HG02135.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0040 a0001c0001t0003g0045	2	328	0.0061	23	c.-38 others(42): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140747738	T T	TAGGAGGA others(16): Show TAGGAGGAGGGGGAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19003.hp2 HG03098.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0051 a0002c0002t0001g0210 a0001c0001t0002g0051 a0002c0002t0001g0210	2	290	0.0069	23	c.154 others(40): Show c.1541-901_1541-879dupCCTTCCTTCCTCCCCCTCCTCCT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	20/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140969593	C C	CTTCTTAC others(16): Show CTTCTTACCTCACAGGTGGTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0254 a0007c0012t0001g0254	1	290	0.0035	23	c.-12 others(44): Show c.-122+31509_-122+31531dupAGAAACCACCTGTGAGGTAAGAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK6_chr20_63523001_63542376	63535771	C C	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCGCCCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0013 a0005c0010t0013	a0005c0010t0013g0271 a0005c0010t0013g0271	1	344	0.0029	23	c.231 others(38): Show c.231-735_231-713dupAGGGGGCGGGAGGCCAGGTGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535822	A A	ACCTGGCC others(16): Show ACCTGGCCTCCCGCCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0258 a0001c0006t0029g0258	1	344	0.0029	23	c.231 others(38): Show c.231-764_231-763insAGAGGAGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535841	C C	CCCTCATC others(16): Show CCCTCATCTGGCCTCCCGCCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0262 a0001c0006t0028g0262	1	344	0.0029	23	c.231 others(38): Show c.231-783_231-782insAGGGGGCGGGAGGCCAGATGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar

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