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
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTGT others(19): Show CTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0196 a0001c0001t0029g0196	1	444	0.0023	26	c.649 others(43): Show c.649-1142_649-1141insCTCTGTGTGTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	444	0.0023	26	c.649 others(41): Show c.649-406_649-405insTATATATATATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR36_chr19_7863719_7879390	7878098	A A	ACATATAT others(19): Show ACATATATACATATATACGTATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	26	c.-38 others(37): Show c.-3821_-3820insCGTATATACGTATATATGTATATATG	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		3709		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36350946	A A	ATTTATAT others(19): Show ATTTATATATTTATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	272	0.0037	26	c.-12 others(47): Show c.-125-50050_-125-50049insTTATATATTTATATATTTATATAT TT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0041 a0003c0002t0041	a0003c0002t0041g0044 a0003c0002t0041g0044	1	216	0.0046	26	c.-51 others(43): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	216	0.0046	26	c.-51 others(43): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03130.hp1 NA18990.hp2 HG01361.hp2 HG03130.hp1 NA18990.hp2	a0002 a0005 a0002 a0005	a0002c0010 a0002c0019 a0005c0005 a0002c0010 a0002c0019 a0005c0005	a0002c0010t0009 a0002c0019t0001 a0005c0005t0002 a0002c0010t0009 a0002c0019t0001 a0005c0005t0002	a0002c0010t0009g0187 a0002c0019t0001g0023 a0005c0005t0002g0205 a0002c0010t0009g0187 a0002c0019t0001g0023 a0005c0005t0002g0205	3	216	0.0139	26	c.-51 others(43): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	216	0.0046	26	c.112 others(43): Show c.1120+741_1120+766dupAAAAAAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00741.hp1 others(31): Show HG00408.hp1 HG00408.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02257.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA19060.hp2 NA19063.hp1 NA19070.hp2 NA19083.hp1 NA19084.hp2 NA19089.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0012 a0022	a0001c0001 a0001c0007 a0003c0002 others(3): Show a0001c0001 a0001c0007 a0003c0002 a0004c0004 a0012c0023 a0022c0024	a0001c0001t0001 a0001c0007t0001 a0003c0002t0003 others(3): Show a0001c0001t0001 a0001c0007t0001 a0003c0002t0003 a0004c0004t0001 a0012c0023t0001 a0022c0024t0001	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0109 others(31): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0007t0001g0099 a0001c0007t0001g0106 a0003c0002t0003g0186 a0003c0002t0003g0197 a0003c0002t0003g0198 a0003c0002t0003g0207 a0003c0002t0003g0209 a0003c0002t0003g0210 a0003c0002t0003g0216 a0003c0002t0003g0219 a0003c0002t0003g0224 a0003c0002t0003g0231 a0004c0004t0001g0015 a0004c0004t0001g0043 a0004c0004t0001g0049 a0012c0023t0001g0132 a0022c0024t0001g0092	34	336	0.1012	26	c.665 others(45): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376549	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02895.hp1 HG02897.hp2 others(11): Show HG00558.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG04115.hp1 NA18954.hp1 NA18974.hp1 NA19030.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0003g0084 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0097 a0001c0001t0004g0206 a0001c0001t0005g0085	14	216	0.0648	26	c.-42 others(45): Show c.-42+27155_-42+27156insATATATATATATATATATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp2 HG02071.hp1 others(9): Show HG01123.hp2 HG01516.hp2 HG02071.hp1 HG02896.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 NA18961.hp1 NA18966.hp1 NA19068.hp1 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0204 a0001c0001t0002g0058	12	216	0.0556	26	c.-42 others(45): Show c.-42+27177_-42+27178insATATATATATATATATATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG02886.hp1 others(3): Show HG01934.hp1 HG02486.hp1 HG02886.hp1 HG03041.hp1 HG03710.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0067 a0001c0001t0003g0062 a0001c0001t0009g0109 others(3): Show a0001c0001t0001g0067 a0001c0001t0003g0062 a0001c0001t0009g0109 a0001c0001t0009g0180 a0001c0001t0013g0006 a0001c0001t0023g0348	6	356	0.0169	26	c.-13 others(35): Show c.-131_-130insCTCTCTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp1 HG03516.hp1 HG00642.hp2 HG02004.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0017 a0001c0001t0001 a0001c0001t0002 a0002c0002t0017	a0001c0001t0001g0011 a0001c0001t0002g0175 a0002c0002t0017g0012 a0001c0001t0001g0011 a0001c0001t0002g0175 a0002c0002t0017g0012	3	356	0.0084	26	c.241 others(43): Show c.241+4970_241+4995dupAAAAAAAAAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170697657	A A	AATATACA others(19): Show AATATACATATATTTATATATGCATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0089 a0001c0001t0029g0089	1	356	0.0028	26	c.242 others(45): Show c.242-22057_242-22032dupTTTATATATGCATATATATACATATA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129715750	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18988.hp2 NA19082.hp1 HG02083.hp2 NA18988.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0178 a0001c0001t0002g0330 a0001c0001t0002g0102 a0001c0001t0002g0178 a0001c0001t0002g0330	3	358	0.0084	26	c.260 others(43): Show c.260-3480_260-3479insTCTCTCTCTCTCTCTCACACACACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRTG_chr15_55606544_55748152	55612737	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0097 a0001c0009t0097	a0001c0009t0097g0112 a0001c0009t0097g0112	1	284	0.0035	26	c.72 others(37): Show c.7274_*7275insGTATATATATATATATATATATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	20/20	7274		chr15	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01928.hp1 HG01934.hp1 others(4): Show HG01256.hp2 HG01928.hp1 HG01934.hp1 HG02148.hp1 HG02300.hp1 HG02738.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0124 a0001c0001t0002 a0001c0001t0004 a0001c0001t0124	a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 others(4): Show a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0004g0282 a0001c0001t0124g0276	7	284	0.0247	26	c.204 others(45): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55738071	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp2 HG01255.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0002 a0001c0001t0042	a0001c0001t0002g0242 a0001c0001t0042g0280 a0001c0001t0002g0242 a0001c0001t0042g0280	2	284	0.0070	26	c.397 others(43): Show c.397+2310_397+2311insATATATATATATATATATATATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRTN3_chr19_835999_853175	841962	C C	CGTGATCC others(19): Show CGTGATCCGCCTGCCTCAGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0173 a0007c0010t0001g0173	1	415	0.0024	26	c.61+ others(39): Show c.61+894_61+919dupGTGATCCGCCTGCCTCAGCCTCCCAA	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0052 a0006c0052	a0006c0052t0006 a0006c0052t0006	a0006c0052t0006g0112 a0006c0052t0006g0112	1	240	0.0042	26	c.37- others(39): Show c.37-875_37-874insATATATATATATATATTTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02523.hp1 NA19030.hp2 others(2): Show HG00597.hp2 HG02523.hp1 NA19030.hp2 NA19065.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0147 a0001c0001t0004g0003 a0001c0001t0020g0004 others(2): Show a0001c0001t0001g0147 a0001c0001t0004g0003 a0001c0001t0020g0004 a0001c0001t0033g0037 a0001c0001t0038g0142	5	300	0.0167	26	c.-18 others(37): Show c.-1889_-1888insATATATATATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78299144	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	416	0.0048	26	c.61- others(41): Show c.61-1455_61-1430dupAAAAAAAAAAAAAAAAAAAAAAAAAA	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830608	C C	CTCTTTCT others(19): Show CTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG03139.hp2 HG01891.hp1 HG03041.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0008 a0002c0003t0005g0040 a0002c0003t0005g0008 a0002c0003t0005g0040	3	276	0.0109	26	c.127 others(45): Show c.1270-3079_1270-3078insCTTTCTTTCTTTCTTTCTTTCTTTCT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18594195	C C	CATATTAT others(19): Show CATATTATATAATATATATTATTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG01884.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0001c0001t0017 a0001c0001t0021 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0021 a0001c0001t0042 a0003c0008t0003	a0001c0001t0002g0149 a0001c0001t0017g0150 a0001c0001t0021g0130 others(2): Show a0001c0001t0002g0149 a0001c0001t0017g0150 a0001c0001t0021g0130 a0001c0001t0042g0158 a0003c0008t0003g0015	5	228	0.0219	26	c.248 others(45): Show c.2481+6143_2481+6168dupATATAATAATATATATTATATAATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	228	0.0044	26	c.22- others(43): Show c.22-13103_22-13102insATATATATATATATATATATATTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSG4_chr19_43187702_43210638	43205845	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	300	0.0033	26	c.-31 others(35): Show c.-310_-309insGTGTGTGTGTGTGTGTGTGTGTGTGT	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding		208		chr19	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp2 HG01496.hp1 others(8): Show HG01074.hp1 HG01346.hp2 HG01496.hp1 HG02027.hp1 HG02074.hp2 HG03490.hp2 NA18962.hp2 NA18987.hp2 NA18989.hp1 NA19003.hp2 NA19076.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0001c0001t0006 a0013c0016t0001 a0001c0001t0001 a0001c0001t0006 a0013c0016t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0117 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0006g0108 a0013c0016t0001g0116	11	430	0.0256	26	c.430 others(43): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18981.hp2 NA19001.hp1 others(1): Show NA18966.hp1 NA18981.hp2 NA19001.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0090 a0001c0007t0002g0004 a0001c0002t0002g0090 a0001c0007t0002g0004	4	416	0.0096	26	c.430 others(43): Show c.430+2096_430+2097insAAAAAAAAAAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03139.hp1 HG01069.hp2 HG01071.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0008g0024 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0008g0024	3	300	0.0100	26	c.149 others(43): Show c.149+4695_149+4720dupATATATATATATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18972.hp1 NA18983.hp1 others(6): Show NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19055.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0003g0031 others(5): Show a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0274 a0001c0001t0003g0276	9	300	0.0300	26	c.149 others(43): Show c.149+4694_149+4695insTTATATATATATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	332	0.0030	26	c.228 others(43): Show c.228+2101_228+2102insATATATATATATATATATATATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	332	0.0030	26	c.228 others(43): Show c.228+2101_228+2102insATATATATATATATATATATATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	332	0.0030	26	c.228 others(43): Show c.228+2101_228+2102insATATATATATATATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB4_chr1_151394573_151406937	151396930	T T	TTTCTTTC others(19): Show TTTCTTTCCTTCCTTCCTTTCCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03139.hp2 others(3): Show HG02109.hp1 HG02572.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	6	396	0.0152	26	c.-26 others(37): Show c.-2658_-2657insTTCTTTCCTTCCTTCCTTTCCTTTCC	PSMB4	ENSG00000159377.11	transcript	ENST00000290541.7	protein_coding		2642		chr1	TogoVar
PSMD14_chr2_161303425_161416717	161327946	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02132.hp1 NA19060.hp1 others(1): Show HG00673.hp2 HG02132.hp1 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0098 a0001c0001t0002g0099 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0111	4	268	0.0149	26	c.48+ others(41): Show c.48+9086_48+9111dupTGTGTGTGTGTGTGTGTGTGTGTGTG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 HG03540.hp2 others(2): Show HG02055.hp2 HG03471.hp1 HG03540.hp2 NA18950.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0246 a0001c0001t0002g0152 a0001c0001t0004g0165	5	268	0.0187	26	c.49- others(43): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show GTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03491.hp2 NA18960.hp1 others(1): Show HG02080.hp2 HG03491.hp2 NA18960.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0064 a0001c0001t0002g0086 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0111	4	268	0.0149	26	c.571 others(43): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231165048	A A	ACAATATA others(19): Show ACAATATATATATAAATATATATATTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	364	0.0028	26	c.248 others(43): Show c.2482-152_2482-151insCAATATATATATAAATATATATATTG	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24			chr2	TogoVar
PSMD3_chr17_39975807_40002959	39992024	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03704.hp2 NA18949.hp2 HG00140.hp1 HG03704.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0114 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0114	3	418	0.0072	26	c.981 others(43): Show c.981+1836_981+1837insAAAAAAAAAAAAAAAAAAAAAAAAAA	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01123.hp1 NA18950.hp1 HG00735.hp1 HG01123.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0106 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0106	3	420	0.0071	26	c.-35 others(37): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(19): Show TGTGTGTGTGAGCGCGCAGGTGCGCGC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	424	0.0024	26	c.703 others(41): Show c.703-169_703-168insTGAGCGCGCAGGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGCGCGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp2 HG03098.hp2 others(2): Show HG01361.hp1 HG01891.hp2 HG03098.hp2 HG03831.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0057 a0002c0005t0001g0028 a0001c0001t0001g0021 a0001c0001t0001g0057 a0002c0005t0001g0028	5	424	0.0118	26	c.703 others(41): Show c.703-169_703-168insTGTGCGCGCGCGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSME1_chr14_24131194_24143962	24135105	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	26	c.-11 others(37): Show c.-1158_-1157insACACACACACACACACACACACACAC	PSME1	ENSG00000092010.15	transcript	ENST00000206451.11	protein_coding		1088		chr14	TogoVar
PSME3_chr17_42828397_42848760	42848544	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	264	0.0038	26	c.69 others(37): Show c.6966_*6967insATATATATATATATATATATATATAC	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4785		chr17	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0182	1	384	0.0026	26	c.481 others(43): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0288 a0003c0004t0001g0288	1	384	0.0026	26	c.958 others(41): Show c.958-641_958-616dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	326	0.0031	26	c.366 others(43): Show c.366-1551_366-1550insATATATATATATATATATATATATTT	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(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19078.hp1 NA19079.hp2 others(1): Show HG03516.hp1 NA19078.hp1 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0004g0063 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0004g0063 a0001c0001t0004g0101	4	326	0.0123	26	c.366 others(43): Show c.366-1551_366-1550insATATATATATATATATATTTTTTTTT	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(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0079 a0001c0001t0018g0079	1	326	0.0031	26	c.366 others(43): Show c.366-1551_366-1550insATATATATATATATATTTTTTTTTTT	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(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	326	0.0031	26	c.366 others(43): Show c.366-1551_366-1550insATATATATATATATTTTTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar

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