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
PPIG_chr2_169579351_169646406	169606591	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0348 a0001c0001t0005g0348	1	39	0.0256	46	c.244 others(61): Show c.244+462_244+463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1J_chr1_112704998_112720332	112706476	A A	ACACACAC others(39): Show ACACACACACACACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	413	0.0024	46	c.36 others(57): Show c.3686_*3687insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG TGTGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3521		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160944832	A A	ATATATTA others(39): Show ATATATTATATATGTTATATAACATATATATGTTATATAACATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp1 HG03139.hp2 others(1): Show HG01109.hp2 HG02886.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0003g0126 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0003g0126 a0001c0001t0003g0140	4	145	0.0276	46	c.400 others(65): Show c.400-16899_400-16898insTATATATGTTATATAACATATATATG TTATATAACATATATTATAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160944956	C C	CATATATA others(39): Show CATATATATTATATATAACTATATATAACATACATTATATATAACTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp2 others(19): Show HG00280.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01993.hp2 HG02027.hp2 HG02735.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp2 NA18986.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0046 others(19): Show a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0003g0143 a0001c0001t0006g0093 a0002c0002t0001g0075	22	104	0.2115	46	c.400 others(65): Show c.400-16780_400-16779insATATATATTATATATAACTATATATA ACATACATTATATATAACTA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPM1L_chr3_160751231_161083902	160944956	C C	CATATATA others(39): Show CATATATATTATATATAACTATATATAACATATATTATATATAACTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG02004.hp2 HG00738.hp1 HG01346.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0054	3	85	0.0353	46	c.400 others(65): Show c.400-16780_400-16779insATATATATTATATATAACTATATATA ACATATATTATATATAACTA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPP1R16B_chr20_38800697_38928024	38896099	C C	CCCTCACT others(39): Show CCCTCACTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	242	0.0041	46	c.467 others(61): Show c.467+389_467+390insCCTCACTTCCCCCCTTCCTTCTTTCTTTCC TCTCTTCCTTCTTTCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10			chr20	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18994.hp1 NA18956.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0074 a0001c0001t0001g0082	2	178	0.0112	46	c.42 others(57): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTGTCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0008 a0007c0009t0008	a0007c0009t0008g0014 a0007c0009t0008g0014	1	215	0.0047	46	c.139 others(67): Show c.1396-40648_1396-40647insTATATATATATATATATGTATATA TATATATATATATATATATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3A_chr3_135960728_136152894	136136073	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	195	0.0051	46	c.333 others(65): Show c.3330-8970_3330-8969insAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATAT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13			chr3	TogoVar
PPP2R5C_chr14_101756709_101932977	101782627	C C	CCCCTTCC others(39): Show CCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCCTCTCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	133	0.0075	46	c.94- others(61): Show c.94-3374_94-3373insTCCCCCTTCCCTTCCCCTCTCTCCCCCTTC CCTTCCCCTCCCTCTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18971.hp2 HG01255.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0064 a0001c0001t0002g0069	2	142	0.0141	46	c.384 others(63): Show c.384+2500_384+2501insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3R1_chr2_68173857_68257532	68198399	A A	ATGCGTGT others(39): Show ATGCGTGTGTATATATGTATATACATATATACGTATATATGCGTATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0327 a0001c0002t0002g0327	1	396	0.0025	46	c.44- others(61): Show c.44-9710_44-9709insCATACGCATATATACGTATATATGTATATA CATATATACACACGCA	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP4R3A_chr14_91452508_91515310	91507452	T T	TATATATA others(39): Show TATATATACTATAATTATATATACTATAGTTATATATACTATATAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01071.hp1 others(11): Show HG00597.hp2 HG01069.hp2 HG01071.hp1 HG02015.hp2 NA18948.hp2 NA18969.hp2 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18993.hp2 NA19006.hp2 NA19077.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0004t0003 a0001c0001t0003 a0001c0001t0006 a0001c0004t0003	a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 others(11): Show a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0004t0003g0315 a0001c0004t0003g0325	14	207	0.0676	46	c.142 others(63): Show c.142+2008_142+2053dupTCTATATAGTATATATAACTATAGTATA TATAATTATAGTATATAT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507466	T T	TTATATAT others(39): Show TTATATATACTATATAGTATATATACTATAATATATATACTATATAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	357	0.0028	46	c.142 others(63): Show c.142+2039_142+2040insCTATATAGTATATATATTATAGTATATA TACTATATAGTATATATA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389386	C C	CACACACA others(39): Show CACACACACACACACACACACAGTGTTGAGTAAGACTCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	392	0.0026	46	c.135 others(63): Show c.1356-644_1356-643insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRAMEF20_chr1_13405450_13426328	13425563	T T	TTACAGGC others(39): Show TTACAGGCACGCACTGCCAGGCACAGCTAATTTTTATATTTTTGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	440	0.0023	46	c.43 others(57): Show c.4305_*4306insTACAGGCACGCACTGCCAGGCACAGCTAATTTTT ATATTTTTGGTA	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding		4236		chr1	TogoVar
PRC1_chr15_90961040_90999535	90969763	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	127	0.0079	46	c.157 others(63): Show c.1573-141_1573-140insATATATATATATATATATATATATATAT ATATATATATATATATAT	PRC1	ENSG00000198901.14	transcript	ENST00000394249.8	protein_coding	12/14			chr15	TogoVar
PRDM16_chr1_3064203_3443621	3287553	C C	CCCCGCCA others(39): Show CCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0060 a0001c0001t0043g0060	1	201	0.0050	46	c.438 others(65): Show c.438+43419_438+43420insGCCACGCGGGCATCCAGGATTGCATT TACCGGGGCTGGAGCCGCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX6_chr1_173472335_173493815	173484385	A A	AAATGGGA others(39): Show AAATGGGAGTGTTCGTATACTTCAGTATTTACCATCCACCATTTAAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	400	0.0025	46	c.253 others(61): Show c.253-974_253-929dupATGGGAGTGTTCGTATACTTCAGTATTTAC CATCCACCATTTAACA	PRDX6	ENSG00000117592.9	transcript	ENST00000340385.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKACB_chr1_84139271_84243498	84212378	A A	AAAAGCTA others(39): Show AAAAGCTATGGTTATGAATTTAACTTTACTATAAAACCTATCTTTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG02897.hp1 others(2): Show HG02145.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0284 a0001c0001t0002g0283 a0001c0001t0003g0068 others(2): Show a0001c0001t0001g0284 a0001c0001t0002g0283 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0012g0282	5	318	0.0157	46	c.907 others(63): Show c.907-1773_907-1728dupAAGCTATGGTTATGAATTTAACTTTACT ATAAAACCTATCTTTGCA	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151653096	G G	GTAGGCAC others(39): Show GTAGGCACTTCTTTCCATTTTTATTGAAATGGAAATCTCACTTAGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03516.hp1 HG02280.hp2 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0134 a0001c0001t0002g0145 a0001c0001t0002g0021 a0001c0001t0002g0134 a0001c0001t0002g0145	3	250	0.0120	46	c.685 others(65): Show c.685-20959_685-20958insATCTAAGTGAGATTTCCATTTCAATA AAAATGGAAAGAAGTGCCTA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	4/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151773066	G G	GGAGGGAG others(39): Show GGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	220	0.0045	46	c.466 others(63): Show c.466+8085_466+8086insTCTTTCTTTCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCTCCCTC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855260	A A	ACACACAC others(39): Show ACACACACCACCCTCCACACACACCACCCTCCACACACACCACCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0119 a0001c0001t0020g0007 a0001c0001t0001g0119 a0001c0001t0020g0007	2	247	0.0081	46	c.114 others(65): Show c.114+21246_114+21247insGAGGGTGGTGTGTGTGGAGGGTGGTG TGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(39): Show TCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0016 a0001c0003t0025g0016	1	37	0.0270	46	c.205 others(65): Show c.205+44618_205+44619insTCTTTCTCTTTCTTTCTTTCTTCCTT CCTTCCTTCCTTCCTTCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(39): Show TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03710.hp1 HG02738.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0084 a0001c0002t0050 a0001c0002t0084	a0001c0002t0050g0008 a0001c0002t0084g0067 a0001c0002t0050g0008 a0001c0002t0084g0067	2	38	0.0526	46	c.205 others(65): Show c.205+44618_205+44619insTCTTTCTCTTTCTTTCTTTCTTTCTT CCTTCCTTCCTTCCTTCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23981891	C C	CCCCCTTC others(39): Show CCCCCTTCCCTTCCCCTTCCCCTTCCCTTTACCTTCCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	130	0.0077	46	c.206 others(63): Show c.206-6614_206-6613insCTTCCCTTCCCCTTCCCCTTCCCTTTAC CTTCCCCTTCCCTTTCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122307	G G	GTTAGGGT others(39): Show GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	140	0.0071	46	c.335 others(65): Show c.335-12954_335-12953insTAGGGTCGTGGTGGTTAGGGTCGTGG TGGTTAGGGTTGTGGTGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD3_chr2_37245502_37329833	37295978	A A	ATTTCTCT others(39): Show ATTTCTCTCCAGAAACTACAGCAAGTAAATGGAAAGAGACAAGGAAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	386	0.0026	46	c.289 others(63): Show c.289-2753_289-2708dupGTTCCTTGTCTCTTTCCATTTACTTGCT GTAGTTTCTGGAGAGAAA	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	2/18			chr2	TogoVar
PRKN_chr6_161342417_162732766	161553093	A A	ATTTCTAA others(39): Show ATTTCTAAACACTACAGTTCATTTTGTCTGTTTTGAAGATGTGTTGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	46	c.934 others(63): Show c.934-4136_934-4091dupACAACACATCTTCAAAACAGACAAAATG AACTGTAGTGTTTAGAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	8/11			chr6	TogoVar
PRMT3_chr11_20382716_20514338	20482231	T T	TATCAGCA others(39): Show TATCAGCATTTTAAAAAATTCTGATTCTAAAGCCTCCAAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02145.hp1 others(7): Show HG00735.hp2 HG01243.hp1 HG02145.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0353 a0001c0001t0002g0354 others(7): Show a0001c0001t0002g0332 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361	10	378	0.0265	46	c.134 others(67): Show c.1348-11687_1348-11642dupATCAGCATTTTAAAAAATTCTGAT TCTAAAGCCTCCAAGTGAGTGA	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	119	0.0084	46	c.75+ others(61): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCCCTCC others(39): Show CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	199	0.0050	46	c.23 others(57): Show c.2337_*2338insTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTCCCTCC others(39): Show CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	73	0.0137	46	c.23 others(57): Show c.2397_*2398insTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(39): Show TAACATTATATATATATATATATATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 NA19030.hp2 HG03491.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0033 a0001c0001t0038g0001 a0001c0001t0001g0033 a0001c0001t0038g0001	2	6	0.3333	46	c.-29 others(57): Show c.-2984_-2983insAACATTATATATATATATATATATATATATATAT ATATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPF3_chr1_150316533_150358233	150336137	G G	GGAGTAAT others(39): Show GGAGTAATTAAACAATAGTGCACATAACTAGATAAATACAACACACT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	360	0.0028	46	c.103 others(63): Show c.1035+897_1035+898insAGTAATTAAACAATAGTGCACATAACTA GATAAATACAACACACTG	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR5_chr22_44697204_44742681	44698346	T T	TTGTGTGA others(39): Show TTGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	437	0.0023	46	c.-41 others(57): Show c.-4129_-4128insTGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGG TGGCTTTGGGGA	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		3857		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0022 a0022	a0022c0045 a0022c0045	a0022c0045t0001 a0022c0045t0001	a0022c0045t0001g0050 a0022c0045t0001g0050	1	92	0.0109	46	c.-51 others(63): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTTTTT	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(39): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0004 a0008c0015t0004	a0008c0015t0004g0067 a0008c0015t0004g0067	1	92	0.0109	46	c.-51 others(63): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTTCTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01433.hp2 NA18945.hp2 others(1): Show HG00423.hp1 HG01433.hp2 NA18945.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0111	4	68	0.0588	46	c.665 others(65): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS41_chr16_2793470_2810304	2795137	T T	TATATATA others(39): Show TATATATACATATATACATATATATACATATATACATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	222	0.0045	46	c.-33 others(57): Show c.-3348_-3347insATATATACATATATACATATATATACATATATAC ATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3332		chr16	TogoVar
PRSS41_chr16_2793470_2810304	2795141	T T	TATATACA others(39): Show TATATACACATATATATACACATATATACATATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG03486.hp1 NA19240.hp2 HG01346.hp2 HG03486.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	3	410	0.0073	46	c.-33 others(57): Show c.-3344_-3343insATATACACATATATATACACATATATACATATAT ATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3328		chr16	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18955.hp2 NA18970.hp2 others(1): Show HG02622.hp1 NA18955.hp2 NA18970.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0128	4	186	0.0215	46	c.228 others(63): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATATAT	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(39): Show ATATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01123.hp2 others(15): Show HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 NA18945.hp2 NA18947.hp2 NA18974.hp2 NA19001.hp1 NA19001.hp2 NA19078.hp2 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0111 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265	18	169	0.1065	46	c.228 others(63): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(39): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	35	0.0286	46	c.571 others(63): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSME4_chr2_53859069_53975993	53940875	A A	AATATATA others(39): Show AATATATATAATACATATTTAAATATATATAATACATATTTAAATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02155.hp1 others(16): Show HG00621.hp2 HG02027.hp1 HG02155.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03669.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp2 NA18952.hp2 NA18954.hp1 NA18970.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18999.hp2 NA19056.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0020 a0002c0029 a0002c0002 a0002c0020 a0002c0029	a0002c0002t0002 a0002c0002t0004 a0002c0020t0002 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0020t0002 a0002c0029t0002	a0002c0002t0002g0054 a0002c0002t0002g0063 a0002c0002t0002g0085 others(16): Show a0002c0002t0002g0054 a0002c0002t0002g0063 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0151 a0002c0002t0002g0154 a0002c0002t0004g0118 a0002c0002t0004g0123 a0002c0020t0002g0219 a0002c0029t0002g0307	19	369	0.0515	46	c.501 others(61): Show c.501-921_501-876dupATATTTAAATATGTATTATATATATTTAAA TATGTATTATATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0149 a0001c0001t0016g0149	1	290	0.0034	46	c.366 others(63): Show c.366-1565_366-1564insGTATATATATATATATATATATATATAT ATATATATATATATATAT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	81	0.0123	46	c.174 others(63): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSORS1C1_chr6_31109800_31145092	31142053	G G	GCACTTAT others(39): Show GCACTTATTTGAAACGATCTCGTTCATCTGTTTAGGTCCCATCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00738.hp1 others(4): Show HG00099.hp2 HG00280.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01433.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0236 a0001c0001t0005g0237 others(1): Show a0001c0001t0005g0019 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238	7	448	0.0156	46	c.21 others(57): Show c.2121_*2122insCACTTATTTGAAACGATCTCGTTCATCTGTTTAG GTCCCATCTGCT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding		1962		chr6	TogoVar
PSORS1C2_chr6_31132534_31144066	31142053	G G	GCACTTAT others(39): Show GCACTTATTTGAAACGATCTCGTTCATCTGTTTAGGTCCCATCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00738.hp1 others(4): Show HG00099.hp1 HG00280.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01433.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	7	460	0.0152	46	c.-30 others(57): Show c.-3028_-3027insAGCAGATGGGACCTAAACAGATGAACGAGATCGT TTCAAATAAGTG	PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding		2988		chr6	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	97	0.0103	46	c.905 others(63): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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