Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19010.hp1 NA18995.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0001 a0001c0001t0001g0133	2	137	0.0146	21	c.430 others(38): Show c.430+2096_430+2097insAAAAATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01517.hp1 NA18906.hp1 HG01074.hp2 HG01517.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0012t0001g0036 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0012t0001g0036	3	138	0.0217	21	c.430 others(38): Show c.430+2096_430+2097insAAAAAAATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	136	0.0074	21	c.430 others(38): Show c.430+2096_430+2097insAAAAAAAAATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp1 NA19063.hp2 HG01928.hp2 HG01981.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	3	138	0.0217	21	c.430 others(38): Show c.430+2096_430+2097insAAAAAAAAAAAAATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19068.hp1 NA18955.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	137	0.0146	21	c.430 others(38): Show c.430+2096_430+2097insAAAAAAAAAAAAAAATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19004.hp1 NA19080.hp2 HG00642.hp1 NA19004.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0172 a0001c0001t0001g0183 a0002c0003t0003g0070 a0001c0001t0001g0172 a0001c0001t0001g0183 a0002c0003t0003g0070	3	338	0.0089	21	c.430 others(38): Show c.430+2095_430+2096insTATATATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15497325	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02647.hp2 HG02818.hp1 others(2): Show HG00544.hp1 HG02647.hp2 HG02818.hp1 HG03579.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0001 a0001c0002t0004 a0002c0003t0001	a0001c0002t0004g0036 a0001c0002t0004g0045 a0001c0002t0004g0049 others(2): Show a0001c0002t0004g0036 a0001c0002t0004g0045 a0001c0002t0004g0049 a0002c0003t0001g0125 a0002c0003t0001g0146	5	188	0.0266	21	c.150 others(38): Show c.150-7202_150-7201insAAAAAAAAAAAAAAAAAAAAA	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSKH2_chr8_86042109_86074668	86049747	A A	AAAGGAAA others(14): Show AAAGGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	408	0.0025	21	c.853 others(36): Show c.853-981_853-980insCCTTTCTTTCTTTCTTTCCTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA1_chr11_14499876_14525386	14508561	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp2 HG01517.hp1 others(6): Show HG00642.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG02273.hp1 HG03490.hp1 NA18974.hp1 NA18974.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0162	9	12	0.7500	21	c.625 others(36): Show c.625-796_625-795insTTTTTTTTTTTTTTTTTTTTT	PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9			chr11	TogoVar
PSMA6_chr14_35287382_35322493	35299327	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	46	0.0217	21	c.76+ others(36): Show c.76+6788_76+6789insTTTTTTTTTTTTTTTTTTTTT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB2_chr1_35594541_35646526	35628592	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	278	0.0036	21	c.285 others(38): Show c.285+2681_285+2682insATATATATATATATATATATA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628594	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	256	0.0039	21	c.285 others(38): Show c.285+2679_285+2680insATATATATATATATATATATA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	184	0.0054	21	c.285 others(38): Show c.285+2677_285+2678insATATATATATATATATATTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	184	0.0054	21	c.285 others(38): Show c.285+2677_285+2678insATATATATATATATATATATT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMD12_chr17_67332916_67371577	67334603	C C	CAAAAAAA others(14): Show CAAAAAAAAAACAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0340 a0001c0002t0004g0340	1	220	0.0045	21	c.62 others(32): Show c.6239_*6240insTGTTTTTTTTGTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3312		chr17	TogoVar
PSMD13_chr11_231976_257984	249553	A A	AGAGCGGC others(14): Show AGAGCGGCGGGTGCGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02886.hp2 others(2): Show HG02145.hp1 HG02280.hp1 HG02886.hp2 HG03130.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0256	5	448	0.0112	21	c.774 others(36): Show c.774+498_774+518dupAGCGGCGGGTGCGGGGAGGGG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01109.hp2 others(7): Show HG00323.hp2 HG01081.hp1 HG01109.hp2 HG01261.hp2 HG02004.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp2 NA18522.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 others(7): Show a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0196	10	28	0.3571	21	c.49- others(38): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTT	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(14): Show GTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03017.hp1 HG03130.hp2 others(2): Show HG01243.hp1 HG03017.hp1 HG03130.hp2 NA18984.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0001g0205 a0001c0001t0002g0026 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0205 a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0102	5	39	0.1282	21	c.571 others(38): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTT	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(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	35	0.0286	21	c.571 others(38): Show c.571-1212_571-1192dupTTTTTTTTTTTTTTTTTTTTT	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(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	40	0.0250	21	c.-35 others(32): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18965.hp1 NA18942.hp2 NA18965.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0339 a0005c0005t0008g0341 a0005c0005t0008g0339 a0005c0005t0008g0341	2	66	0.0303	21	c.454 others(38): Show c.454-1333_454-1313dupTTTTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSMD9_chr12_121883790_121923297	121904639	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02451.hp1 others(9): Show HG01168.hp1 HG01169.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG03041.hp2 NA18906.hp1 NA18969.hp1 NA18998.hp2 NA19011.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0004g0005 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0004g0005 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0017g0058	12	99	0.1212	21	c.555 others(38): Show c.555+1547_555+1567dupATTATTATTATTATTATTATT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53860038	T T	TCCCCCCC others(14): Show TCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0248 a0003c0004t0001g0248	1	382	0.0026	21	c.55 others(32): Show c.5539_*5540insGGGGGGGGGGGGGGGGGGGGG	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		4030		chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG02717.hp1 others(2): Show HG01175.hp2 HG01257.hp1 HG02717.hp1 NA19004.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0009 a0004c0008 a0001c0005 a0001c0009 a0004c0008	a0001c0005t0001 a0001c0009t0001 a0004c0008t0001 a0001c0005t0001 a0001c0009t0001 a0004c0008t0001	a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0328 others(2): Show a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0328 a0001c0009t0001g0367 a0004c0008t0001g0382	5	74	0.0676	21	c.481 others(38): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp1 NA18963.hp1 others(1): Show HG02027.hp2 HG02523.hp1 NA18963.hp1 NA19011.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0007 a0003c0004t0001 a0003c0004t0007	a0003c0004t0001g0033 a0003c0004t0001g0256 a0003c0004t0001g0301 others(1): Show a0003c0004t0001g0033 a0003c0004t0001g0256 a0003c0004t0001g0301 a0003c0004t0007g0288	4	36	0.1111	21	c.958 others(36): Show c.958-636_958-616dupTTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04199.hp2 HG01993.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0003g0114 a0001c0001t0001g0126 a0001c0001t0003g0114	2	151	0.0132	21	c.366 others(38): Show c.366-1551_366-1550insATATATATATATATATATATT	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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01243.hp2 others(10): Show HG00621.hp1 HG00738.hp1 HG01243.hp2 HG02080.hp2 HG02735.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18966.hp1 NA19001.hp1 NA19009.hp2 NA19055.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0014 a0001c0001t0003g0117 a0001c0001t0003g0128 others(9): Show a0001c0001t0003g0014 a0001c0001t0003g0117 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0194 a0001c0001t0006g0195	13	162	0.0802	21	c.366 others(38): Show c.366-1551_366-1550insATATATATATATATATATTTT	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(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp1 HG03492.hp2 others(1): Show HG00140.hp1 HG02683.hp1 HG03492.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0004g0146 others(1): Show a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0004g0146 a0001c0001t0004g0217	4	153	0.0261	21	c.366 others(38): Show c.366-1551_366-1550insATATATATATATATATTTTTT	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(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	150	0.0067	21	c.366 others(38): Show c.366-1551_366-1550insATATATATATTTTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG03471.hp1 NA18946.hp2 others(4): Show HG01070.hp2 HG03471.hp1 NA18946.hp2 NA18970.hp2 NA19054.hp1 NA19063.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0003t0005 a0001c0002t0001 a0001c0003t0003 a0001c0003t0005	a0001c0002t0001g0016 a0001c0003t0003g0005 a0001c0003t0005g0010 a0001c0002t0001g0016 a0001c0003t0003g0005 a0001c0003t0005g0010	7	84	0.0833	21	c.-19 others(32): Show c.-1931_-1911dupTTTTTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar
PSORS1C1_chr6_31109800_31145092	31127561	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01099.hp1 others(11): Show HG00639.hp1 HG00642.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01891.hp1 HG03225.hp2 NA18953.hp2 NA18964.hp2 NA18978.hp1 NA18986.hp1 NA19056.hp1 NA19059.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0002c0002t0001 a0003c0003t0012 a0004c0005t0021	a0001c0001t0002g0022 a0001c0001t0002g0116 a0001c0001t0002g0132 others(9): Show a0001c0001t0002g0022 a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0006g0145 a0001c0001t0007g0243 a0001c0001t0007g0271 a0001c0001t0008g0249 a0001c0001t0018g0248 a0002c0002t0001g0203 a0003c0003t0012g0261 a0004c0005t0021g0235	14	63	0.2222	21	c.-65 others(38): Show c.-65+1732_-65+1752dupATTATTATTATTATTATTATT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSTPIP2_chr18_45978536_46077260	45979195	C C	CCTCTCCC others(14): Show CCTCTCCCTTCTCCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0277 a0002c0003t0004g0277	1	292	0.0034	21	c.62 others(32): Show c.6263_*6264insAAGAAGAAGGAGAAGGGAGAG	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding		4340		chr18	TogoVar
PTAR1_chr9_69704525_69765011	69759960	T T	TCGGGCGC others(14): Show TCGGGCGCGCCTCCGCGTGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0282 a0001c0001t0059g0282	1	386	0.0026	21	c.-43 others(28): Show c.-43_-23dupGCTCACGCGGAGGCGCGCCCG	PTAR1	ENSG00000188647.13	transcript	ENST00000340434.5	protein_coding	1/8	23		chr9	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(14): Show CTTTTTTTTGTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(9): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG02027.hp2 HG02896.hp1 HG06807.hp2 NA18943.hp2 NA18951.hp2 NA18955.hp2 NA18966.hp1 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001	a0001c0002t0001g0276 a0001c0002t0001g0285 a0001c0002t0001g0292 others(9): Show a0001c0002t0001g0276 a0001c0002t0001g0285 a0001c0002t0001g0292 a0001c0002t0001g0318 a0001c0002t0001g0326 a0001c0002t0001g0329 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0351 a0001c0002t0008g0265 a0001c0003t0001g0262	12	225	0.0533	21	c.904 others(38): Show c.904+6580_904+6581insGTTTTTTTTTTGTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(14): Show CTTTTTTTTGTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp2 others(13): Show HG00099.hp1 HG00140.hp1 HG00558.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG02155.hp2 HG03098.hp1 HG03704.hp2 HG03927.hp2 NA18940.hp1 NA18977.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 others(13): Show a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0333 a0001c0002t0001g0339 a0001c0002t0001g0341 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0002t0008g0293 a0001c0002t0008g0345	16	229	0.0699	21	c.904 others(38): Show c.904+6580_904+6581insGTTTTTTTTTTTGTTTTTTTT	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(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03041.hp1 HG03098.hp1 others(2): Show HG00558.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0312 a0001c0002t0001g0320 others(2): Show a0001c0002t0001g0268 a0001c0002t0001g0312 a0001c0002t0001g0320 a0001c0002t0001g0339 a0001c0002t0001g0346	5	101	0.0495	21	c.905 others(38): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTT	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(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 NA18906.hp1 others(1): Show HG03041.hp2 HG03130.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0001 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0320 a0001c0001t0010g0287 a0001c0001t0012g0334 others(1): Show a0001c0001t0001g0320 a0001c0001t0010g0287 a0001c0001t0012g0334 a0001c0001t0012g0337	4	61	0.0656	21	c.802 others(38): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320285	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	339	0.0029	21	c.-52 others(40): Show c.-52+13184_-52+13185insATATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	253	0.0040	21	c.-52 others(40): Show c.-52+13178_-52+13179insATATATATATATATATATTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18983.hp1 HG02074.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0190 a0001c0002t0001g0272 a0001c0001t0001g0190 a0001c0002t0001g0272	2	216	0.0093	21	c.-52 others(40): Show c.-52+13155_-52+13156insAAATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18966.hp2 HG02109.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0092 a0001c0001t0008g0315 a0001c0001t0001g0092 a0001c0001t0008g0315	2	216	0.0093	21	c.-52 others(40): Show c.-52+13155_-52+13156insAAAAATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA19058.hp2 HG04184.hp1 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0205 a0001c0002t0002g0003 a0001c0002t0002g0205	2	181	0.0110	21	c.-20 others(32): Show c.-2010_-2009insAAAAAAAAATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG03239.hp2 HG03490.hp1 others(5): Show HG02895.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03942.hp2 NA18961.hp1 NA19000.hp1 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018	a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0180 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0180 a0001c0002t0002g0209 a0001c0002t0014g0214 a0001c0002t0018g0044	8	187	0.0428	21	c.-20 others(32): Show c.-2010_-2009insAAAAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18956.hp1 NA18969.hp2 others(1): Show NA18954.hp2 NA18956.hp1 NA18969.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0009 a0001c0002t0002g0194 a0001c0002t0002g0198	4	183	0.0219	21	c.-20 others(32): Show c.-2010_-2009insAAAAAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	180	0.0056	21	c.-20 others(32): Show c.-2010_-2009insAAAAAAAAAAAAAAATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18944.hp2 NA18969.hp2 HG02486.hp1 NA18944.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0164 a0001c0008t0001g0134 a0001c0008t0001g0135 a0001c0003t0001g0164 a0001c0008t0001g0134 a0001c0008t0001g0135	3	159	0.0189	21	c.813 others(36): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	47876350	T T	TTCCTGTT others(14): Show TTCCTGTTGAAACCCAATTACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0095 a0001c0001t0119g0095	1	180	0.0056	21	c.19 others(32): Show c.1932_*1952dupGGTAATTGGGTTTCAACAGGA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	5/5	1952		chr6	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	42	0.0238	21	c.3-1 others(34): Show c.3-1781_3-1761dupTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	70	0.0143	21	c.2+4 others(34): Show c.2+4504_2+4524dupTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTH2R_chr2_208401792_208499506	208408721	A A	AAAGAGAG others(14): Show AAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0032 a0001c0003t0003g0032	1	292	0.0034	21	c.75+ others(36): Show c.75+1621_75+1622insGAGAAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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