Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
POTEF_chr2_130068535_130134222	130120968	ATGCGCGT others(43): Show ATGCGCGTGCAAGCCATTACAGGCCAGCCAAGCCGTTACGCGCGTGCGGC G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp2	a0003 a0006 a0014 a0003 a0006 a0014	a0003c0004 a0006c0008 a0014c0019 a0003c0004 a0006c0008 a0014c0019	a0003c0004t0003 a0006c0008t0003 a0014c0019t0003 a0003c0004t0003 a0006c0008t0003 a0014c0019t0003	a0003c0004t0003g0003 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show a0003c0004t0003g0003 a0003c0004t0003g0074 a0003c0004t0003g0078 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0083 a0006c0008t0003g0001 a0014c0019t0003g0084	12	165	0.0727	-50	c.-93 others(65): Show c.-93-410_-93-361delCGCCGCACGCGCGTAACGGCTTGGCTGGCC TGTAATGGCTTGCACGCGCA	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	2/16			chr2	TogoVar
POTEJ_chr2_130606440_130663037	130613265	CATATATA others(43): Show CATATATATACATATGTATATATACATATATATACATATGTATATATACA T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02896.hp2 HG01884.hp2 HG02559.hp2 HG02896.hp2	a0006 a0006	a0006c0008 a0006c0035 a0006c0008 a0006c0035	a0006c0008t0001 a0006c0035t0001 a0006c0008t0001 a0006c0035t0001	a0006c0008t0001g0008 a0006c0008t0001g0009 a0006c0035t0001g0012 a0006c0008t0001g0008 a0006c0008t0001g0009 a0006c0035t0001g0012	3	131	0.0229	-50	c.410 others(67): Show c.410+1331_410+1380delTACATATGTATATATACATATATATACA TATGTATATATACATATATATA	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG02559.hp2 others(5): Show HG01109.hp1 HG01261.hp1 HG02559.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp2 NA18983.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0066 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0161	8	170	0.0471	-50	c.148 others(69): Show c.1489+2978_1489+3027delTATATATATATATATATATATATATA TATATATATATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70220739	TTATATAT others(43): Show TTATATATATATAATATATATAATTTATATATATATAATATATATAATTT A	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20129.hp1 HG00639.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0260 a0001c0001t0003g0255 a0001c0001t0003g0260	2	408	0.0049	-50	c.124 others(67): Show c.124-1972_124-1923delTAAATTATATATATTATATATATATAAA TTATATATATTATATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70220925	TTATATAT others(43): Show TTATATATACTATATATATAATTTATATATAATATATATAATTTTTATAT A	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	408	0.0025	-50	c.124 others(67): Show c.124-2158_124-2109delTATATAAAAATTATATATATTATATATA AATTATATATATAGTATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPIAL4A_chr1_120884771_120895530	120889436	AAAAAAAG others(43): Show AAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	280	0.0036	-50	c.-38 others(59): Show c.-384_-335delAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding		334		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706464	CCACACAC others(43): Show CCACACACACACACACACACACACACACACACACACACACACACACACAC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	422	0.0024	-50	c.36 others(61): Show c.3649_*3698delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3533		chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150165251	GTAAATAT others(43): Show GTAAATATTCAATAAATATCAGCTGGTTGGTGGACAGGTCTGAACTTGCC T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	312	0.0032	-50	c.306 others(69): Show c.306+21755_306+21804delAAATATTCAATAAATATCAGCTGGTT GGTGGACAGGTCTGAACTTGCCTT	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R8_chr1_27825782_27856676	27853193	ATGGGGGG others(43): Show ATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAG G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(42): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(37): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0119 a0001c0001t0008g0063 a0001c0004t0001g0026	45	340	0.1324	-50	c.27 others(61): Show c.2748_*2797delTGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGG	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1518		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853388	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	340	0.0029	-50	c.29 others(61): Show c.2943_*2992delGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCC	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1713		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27854315	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCACCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA18966.hp2 HG02451.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0103 a0001c0001t0009g0116 a0001c0001t0001g0103 a0001c0001t0009g0116	2	340	0.0059	-50	c.38 others(61): Show c.3870_*3919delGGGGGGGTCAGCCCCCCACCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTG	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2640		chr1	TogoVar
PPP2R2C_chr4_6315581_6477614	6353867	GCCCCCCC others(43): Show GCCCCCCCACACCGACAGCCCCCAACACCGACAGCCCCCAACACCGACAG C	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	298	0.0034	-50	c.626 others(67): Show c.626-5907_626-5858delGCTGTCGGTGTTGGGGGCTGTCGGTGTT GGGGGCTGTCGGTGTGGGGGGG	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101124675	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0185 a0001c0001t0063g0185	1	192	0.0052	-50	c.260 others(69): Show c.260-15647_260-15598delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(43): Show AACACACACACACACACACACACACACACACACACACACACACACACACA C	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG02071.hp2 others(17): Show HG00323.hp1 HG00642.hp1 HG02071.hp2 HG02083.hp2 HG02622.hp1 HG02897.hp1 HG03453.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 NA18612.hp2 NA18950.hp2 NA18954.hp2 NA18965.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA19064.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0351 a0001c0003t0001g0327	20	394	0.0508	-50	c.135 others(67): Show c.1356-639_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R1_chr19_55224779_55264017	55257390	GCGGGTGT others(43): Show GCGGGTGTCTATGGTCATGTCTGTGTGTACTACGAGCGAGCAAGAAAGAC C	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0003 a0015c0025t0003	a0015c0025t0003g0313 a0015c0025t0003g0313	1	378	0.0027	-50	c.-7+ others(64): Show c.-7+995_-7+1044delGGTCTTTCTTGCTCGCTCGTAGTACACACAG ACATGACCATAGACACCCG	PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding	1/23			chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50434577	CCTGGAGG others(43): Show CCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGC T	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0169 a0002c0004t0005g0169	1	340	0.0029	-50	c.140 others(67): Show c.1401-344_1401-295delTTTGCTCTGGAGGAGGGCCGGGGGCATG GATGCTGGGCAGGGGCCGGGCA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAG1_chr8_8312736_8391439	8347848	ACTCTGTC others(43): Show ACTCTGTCACCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTACAA C	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02055.hp2 others(27): Show HG00741.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18952.hp1 NA18970.hp1 NA19043.hp2 NA19056.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0005 a0008 a0009 others(5): Show a0005 a0008 a0009 a0012 a0015 a0030 a0034 a0042	a0005c0005 a0008c0014 a0009c0009 others(6): Show a0005c0005 a0008c0014 a0009c0009 a0012c0011 a0015c0019 a0015c0051 a0030c0044 a0034c0035 a0042c0052	a0005c0005t0001 a0005c0005t0002 a0008c0014t0001 others(7): Show a0005c0005t0001 a0005c0005t0002 a0008c0014t0001 a0009c0009t0001 a0012c0011t0001 a0015c0019t0001 a0015c0051t0001 a0030c0044t0001 a0034c0035t0009 a0042c0052t0001	a0005c0005t0001g0207 a0005c0005t0002g0131 a0005c0005t0002g0136 others(26): Show a0005c0005t0001g0207 a0005c0005t0002g0131 a0005c0005t0002g0136 a0005c0005t0002g0138 a0005c0005t0002g0139 a0005c0005t0002g0141 a0005c0005t0002g0142 a0005c0005t0002g0143 a0005c0005t0002g0146 a0005c0005t0002g0147 a0005c0005t0002g0148 a0005c0005t0002g0149 a0008c0014t0001g0271 a0008c0014t0001g0314 a0008c0014t0001g0315 a0008c0014t0001g0317 a0009c0009t0001g0196 a0009c0009t0001g0201 a0009c0009t0001g0202 a0009c0009t0001g0203 a0012c0011t0001g0003 a0012c0011t0001g0198 a0012c0011t0001g0199 a0015c0019t0001g0193 a0015c0019t0001g0197 a0015c0051t0001g0326 a0030c0044t0001g0200 a0034c0035t0009g0327 a0042c0052t0001g0313	30	336	0.0893	-50	c.216 others(69): Show c.2163-8263_2163-8214delGTTGTAGTGAGCTGAGATCATGCCGC TGCACTCCAGCCTGGGTGACAGAG	PRAG1	ENSG00000275342.6	transcript	ENST00000615670.5	protein_coding	3/5			chr8	TogoVar
PRDM12_chr9_130659594_130687983	130680622	CTAAAAAA others(43): Show CTAAAAAAAAAAAATATATATATATATATATATATATATTTTTTTTTTTT T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0347 a0001c0003t0001g0347	1	392	0.0026	-50	c.683 others(65): Show c.683-622_683-573delAAAAAAAAAATATATATATATATATATATA TATATTTTTTTTTTTTTTAA	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM6_chr5_123084241_123199266	123089102	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACAC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0211 a0001c0001t0013g0211	1	312	0.0032	-50	c.-43 others(59): Show c.-432_-383delCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA CACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		138		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089112	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACAC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	312	0.0032	-50	c.-42 others(59): Show c.-422_-373delCTCTCTCTCTCTCTCACACACACACACACACACACA CACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		128		chr5	TogoVar
PRDX3_chr10_119162720_119183812	119181924	TGGGCGGG others(43): Show TGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	426	0.0024	-50	c.-31 others(61): Show c.-3184_-3135delGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCC	PRDX3	ENSG00000165672.7	transcript	ENST00000298510.4	protein_coding		3113		chr10	TogoVar
PREX2_chr8_67947046_68242032	68115554	TATGTTGT others(43): Show TATGTTGTTTGTATGACTTATTTTGTGAAGAACAAGAGAACTTTGAATGA C	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0021 a0001c0003t0010 a0001c0003t0021	a0001c0003t0010g0163 a0001c0003t0021g0130 a0001c0003t0010g0163 a0001c0003t0021g0130	2	190	0.0105	-50	c.314 others(67): Show c.3147-195_3147-146delTTGTTTGTATGACTTATTTTGTGAAGAA CAAGAGAACTTTGAATGACATG	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	25/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRIMPOL_chr4_184644738_184699952	184653022	GGGAAAGA others(43): Show GGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAGGAAGAAGGGAAGGAAGGA A	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03516.hp2 others(2): Show HG03209.hp2 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0002c0006t0001 a0001c0001t0001 a0001c0001t0004 a0002c0006t0001	a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0004g0068 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0004g0068 a0001c0001t0004g0069 a0002c0006t0001g0053	5	328	0.0152	-50	c.-60 others(65): Show c.-60+932_-60+981delAGGGAGGGAGGAAGGAAGGAAGGAAGAAGG GAAGGAAGGAAGGAAAGAAG	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151737934	ACTCCCAC others(43): Show ACTCCCACGGGGCCTCCATCCACAGAAGCCAGAGATGCCCAGATCTGCCA C	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0171 a0001c0001t0006g0171	1	252	0.0040	-50	c.466 others(69): Show c.466+43168_466+43217delGTGGCAGATCTGGGCATCTCTGGCTT CTGTGGATGGAGGCCCCGTGGGAG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23865493	ATATATAT others(43): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0131 a0001c0003t0044g0131	1	148	0.0068	-50	c.205 others(69): Show c.205+28089_205+28138delATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2121698	AGGGTCAC others(43): Show AGGGTCACGGTGGTAGTTAGGGTCACGGCGGTACTTAGGGTCACGGCGGT G	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	-50	c.335 others(69): Show c.335-13562_335-13513delGGTCACGGTGGTAGTTAGGGTCACGG CGGTACTTAGGGTCACGGCGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121716	AGGGTCAC others(43): Show AGGGTCACGGCGGTACTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGT G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01358.hp1 HG02004.hp2 others(15): Show HG00558.hp1 HG01358.hp1 HG02004.hp2 HG04115.hp2 NA18947.hp2 NA18970.hp1 NA18970.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19055.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0202 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0002t0001g0095 a0001c0002t0001g0267 a0001c0003t0001g0059 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0003t0001g0275	18	286	0.0629	-50	c.335 others(69): Show c.335-13544_335-13495delGGTCACGGCGGTACTTAGGGTCACGG CGGTGGTTAGGGTCACGGCGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121944	AGGGTCAC others(43): Show AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGT G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	286	0.0035	-50	c.335 others(69): Show c.335-13316_335-13267delGGTCACGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCACGGCGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51392727	ACCTCCCG others(43): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCACCCCCACCT C	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19043.hp1 HG01099.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0059 a0001c0001t0005g0061 a0001c0001t0002g0059 a0001c0001t0005g0061	2	64	0.0313	-50	c.479 others(69): Show c.479-74956_479-74907delACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACC	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51392881	AGACGGGG others(43): Show AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCACCCCCACCTCCCTCCC G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp2 others(15): Show HG00140.hp1 HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01496.hp1 HG02109.hp2 HG02258.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03688.hp1 HG03834.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0005t0002 a0002c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0046 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0003g0023 a0001c0001t0005g0031 a0001c0001t0005g0061 a0001c0001t0007g0007 a0001c0001t0009g0039 a0001c0001t0012g0045 a0001c0005t0002g0037 a0002c0004t0001g0044	18	64	0.2813	-50	c.479 others(69): Show c.479-74822_479-74773delTGGGGGGCTGACCACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52302228	ATATACAC others(43): Show ATATACACACATATGTATACACATGTATACACACACATATGTATACACAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01192.hp2 others(5): Show HG00140.hp2 HG00639.hp2 HG01192.hp2 HG02258.hp2 HG02896.hp1 HG03225.hp1 HG03834.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0003t0011 a0002c0004t0004	a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 others(5): Show a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0004g0035 a0001c0002t0002g0025 a0001c0003t0011g0016 a0002c0004t0004g0053	8	64	0.1250	-50	c.83 others(61): Show c.8329_*8378delTATACACACATATGTATACACATGTATACACACA CATATGTATACACATG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3879		chr10	TogoVar
PRKN_chr6_161342417_162732766	161646004	TGGCGTAT others(43): Show TGGCGTATCAGTGACAGTGGTGACTGCGTGTGCATGCGTGGTGGAGGAGG C	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0013 a0006c0010t0005g0013	1	32	0.0313	-50	c.872 others(69): Show c.872-76638_872-76589delGCCTCCTCCACCACGCATGCACACGC AGTCACCACTGTCACTGATACGCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161646037	ATGCGTGG others(43): Show ATGCGTGGTGGAGGAGGCGGCGTATCAGTGACAGTGGTGACTGCGTGTGC G	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02897.hp1 others(3): Show HG01192.hp1 HG01884.hp1 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0008t0010 a0002c0002t0004 a0003c0005t0002	a0001c0001t0002g0005 a0001c0001t0003g0022 a0001c0001t0004g0029 others(3): Show a0001c0001t0002g0005 a0001c0001t0003g0022 a0001c0001t0004g0029 a0001c0008t0010g0014 a0002c0002t0004g0019 a0003c0005t0002g0026	6	32	0.1875	-50	c.872 others(69): Show c.872-76671_872-76622delCGCACACGCAGTCACCACTGTCACTG ATACGCCGCCTCCTCCACCACGCA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161646145	CGGAGGAG others(43): Show CGGAGGAGGCGGCGTATCAGTGACAGTGGTGACTGCGTGTGCGTGCGTGG T	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	32	0.0313	-50	c.872 others(69): Show c.872-76779_872-76730delACCACGCACGCACACGCAGTCACCAC TGTCACTGATACGCCGCCTCCTCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161646437	GTGCGTGG others(43): Show GTGCGTGGTGGAGGAGGCGGCGTATTAGTGACAGTGGTGACTGCGTGTGC A	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp2 HG03209.hp1 others(1): Show HG01361.hp1 HG02602.hp2 HG03209.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0024 a0001c0001t0006g0003	4	32	0.1250	-50	c.872 others(69): Show c.872-77071_872-77022delTGCACACGCAGTCACCACTGTCACTA ATACGCCGCCTCCTCCACCACGCA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRLR_chr5_35050702_35235487	35196035	TAAATAAA others(43): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT A	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp1 others(160): Show HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0003t0053 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0002t0018 a0002c0002t0024 a0002c0002t0055 a0002c0002t0059 a0002c0005t0027 a0003c0004t0012	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0035 others(159): Show a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0134 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0052 a0001c0001t0003g0062 a0001c0001t0003g0077 a0001c0001t0003g0087 a0001c0001t0003g0096 a0001c0001t0004g0009 a0001c0001t0004g0021 a0001c0001t0004g0048 a0001c0001t0004g0066 a0001c0001t0004g0119 a0001c0001t0004g0133 a0001c0001t0004g0165 a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0161 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0008g0118 a0001c0001t0008g0199 a0001c0001t0008g0200 a0001c0001t0008g0201 a0001c0001t0009g0098 a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0012g0056 a0001c0001t0012g0093 a0001c0001t0013g0019 a0001c0001t0013g0026 a0001c0001t0013g0107 a0001c0001t0014g0028 a0001c0001t0015g0017 a0001c0001t0015g0167 a0001c0001t0016g0176 a0001c0001t0017g0106 a0001c0001t0017g0108 a0001c0001t0018g0025 a0001c0001t0019g0088 a0001c0001t0019g0089 a0001c0001t0020g0104 a0001c0001t0020g0105 a0001c0001t0021g0053 a0001c0001t0021g0060 a0001c0001t0022g0202 a0001c0001t0022g0206 a0001c0001t0023g0210 a0001c0001t0023g0213 a0001c0001t0025g0162 a0001c0001t0026g0175 a0001c0001t0029g0040 a0001c0001t0030g0049 a0001c0001t0031g0042 a0001c0001t0032g0076 a0001c0001t0034g0032 a0001c0001t0036g0085 a0001c0001t0037g0046 a0001c0001t0039g0047 a0001c0001t0040g0036 a0001c0001t0041g0054 a0001c0001t0043g0064 a0001c0001t0044g0178 a0001c0001t0045g0018 a0001c0001t0047g0073 a0001c0001t0049g0033 a0001c0001t0050g0067 a0001c0001t0052g0184 a0001c0001t0054g0203 a0001c0001t0057g0204 a0001c0001t0058g0208 a0001c0001t0060g0209 a0001c0001t0061g0212 a0001c0003t0053g0113 a0002c0002t0001g0051 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0123 a0002c0002t0003g0168 a0002c0002t0003g0180 a0002c0002t0007g0115 a0002c0002t0007g0116 a0002c0002t0007g0120 a0002c0002t0007g0173 a0002c0002t0011g0014 a0002c0002t0011g0117 a0002c0002t0018g0158 a0002c0002t0024g0002 a0002c0002t0055g0205 a0002c0002t0059g0211 a0002c0005t0027g0101 a0003c0004t0012g0016	163	214	0.7617	-50	c.-10 others(71): Show c.-106+34183_-106+34232delTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PRPF4B_chr6_4016300_4069983	4020778	GGAAATAA others(43): Show GGAAATAACGAACTGAATCGTGTCACCCTTGAACTATGTAAAAGTTGAAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00673.hp2 others(112): Show HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19074.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0015 others(2): Show a0001c0001 a0001c0005 a0001c0015 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0029 a0001c0005t0006 a0001c0015t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0023 a0002c0002t0024 a0002c0002t0027 a0002c0003t0005	a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 others(104): Show a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0200 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0002g0222 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0007 a0001c0001t0004g0022 a0001c0001t0004g0062 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0316 a0001c0001t0006g0292 a0001c0001t0009g0213 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0029g0060 a0001c0005t0006g0318 a0001c0005t0006g0319 a0001c0005t0006g0320 a0001c0015t0003g0005 a0002c0002t0001g0195 a0002c0002t0002g0166 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0023g0198 a0002c0002t0024g0183 a0002c0002t0027g0190 a0002c0003t0005g0124	115	368	0.3125	-50	c.-64 others(59): Show c.-647_-598delGAAATAACGAACTGAATCGTGTCACCCTTGAACTAT GTAAAAGTTGAAAA	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding		521		chr6	TogoVar
PRR36_chr19_7863719_7879390	7878014	GTATATAC others(43): Show GTATATACGCATATATACATATATACATATATACGTATATACGCATATAT A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03130.hp1 NA18906.hp1 HG02723.hp2 HG03130.hp1 NA18906.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	3	386	0.0078	-50	c.-37 others(61): Show c.-3786_-3737delTATATATGCGTATATACGTATATATGTATATATG TATATATGCGTATATA	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		3625		chr19	TogoVar
PRSS41_chr16_2793470_2810304	2802000	CGGCTGGC others(43): Show CGGCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG T	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	426	0.0024	-50	c.542 others(67): Show c.542-2383_542-2334delGCCGGGCGTGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGTGGCTG	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRX_chr19_40388768_40418378	40399855	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(24): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG01074.hp1 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01981.hp2 HG02559.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18965.hp2 NA20752.hp2 NA20905.hp1	a0004 a0011 a0020 a0004 a0011 a0020	a0004c0004 a0011c0013 a0020c0036 a0004c0004 a0011c0013 a0020c0036	a0004c0004t0001 a0011c0013t0001 a0020c0036t0001 a0004c0004t0001 a0011c0013t0001 a0020c0036t0001	a0004c0004t0001g0016 a0004c0004t0001g0019 a0004c0004t0001g0020 others(19): Show a0004c0004t0001g0016 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0047 a0004c0004t0001g0077 a0004c0004t0001g0090 a0004c0004t0001g0092 a0004c0004t0001g0113 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0001g0116 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0124 a0004c0004t0001g0125 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0146 a0011c0013t0001g0005 a0020c0036t0001g0089	27	306	0.0882	-50	c.185 others(67): Show c.185-1089_185-1040delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6			chr19	TogoVar
PSD3_chr8_18522303_19018703	18865246	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT T	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03831.hp2 HG04204.hp2 others(3): Show HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18964.hp2 NA19066.hp1 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0009 a0002c0003t0040 others(2): Show a0002c0003t0001 a0002c0003t0009 a0002c0003t0040 a0002c0003t0085 a0002c0005t0016	a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0009g0018 others(3): Show a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0009g0018 a0002c0003t0040g0080 a0002c0003t0085g0227 a0002c0005t0016g0051	6	228	0.0263	-50	c.163 others(69): Show c.1634+2378_1634+2427delAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865248	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01074.hp2 others(9): Show HG00544.hp1 HG01070.hp1 HG01074.hp2 HG02056.hp1 HG03490.hp1 HG03942.hp2 NA18959.hp1 NA18965.hp1 NA18999.hp2 NA19060.hp1 NA19081.hp1 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0004 a0002c0003t0018 others(5): Show a0002c0003t0001 a0002c0003t0004 a0002c0003t0018 a0002c0003t0034 a0002c0003t0044 a0002c0003t0067 a0002c0003t0084 a0002c0005t0001	a0002c0003t0001g0079 a0002c0003t0001g0087 a0002c0003t0001g0089 others(9): Show a0002c0003t0001g0079 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0004g0220 a0002c0003t0018g0204 a0002c0003t0034g0042 a0002c0003t0044g0119 a0002c0003t0067g0138 a0002c0003t0084g0228 a0002c0005t0001g0057 a0002c0005t0001g0084 a0002c0005t0001g0137	12	228	0.0526	-50	c.163 others(69): Show c.1634+2376_1634+2425delAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865250	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp2 NA18960.hp1 others(1): Show HG00738.hp2 HG02622.hp2 NA18960.hp1 NA18970.hp2	a0002 a0002	a0002c0003 a0002c0015 a0002c0033 a0002c0003 a0002c0015 a0002c0033	a0002c0003t0009 a0002c0003t0010 a0002c0015t0001 others(1): Show a0002c0003t0009 a0002c0003t0010 a0002c0015t0001 a0002c0033t0016	a0002c0003t0009g0106 a0002c0003t0010g0064 a0002c0015t0001g0014 others(1): Show a0002c0003t0009g0106 a0002c0003t0010g0064 a0002c0015t0001g0014 a0002c0033t0016g0053	4	228	0.0175	-50	c.163 others(69): Show c.1634+2374_1634+2423delAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PTBP1_chr19_792452_817312	816572	CCCAGCCA others(43): Show CCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACCCATTCATCA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG03195.hp2 HG02572.hp1 HG02896.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0040 a0001c0001t0001 a0001c0001t0002 a0001c0001t0040	a0001c0001t0001g0159 a0001c0001t0002g0161 a0001c0001t0040g0160 a0001c0001t0001g0159 a0001c0001t0002g0161 a0001c0001t0040g0160	3	388	0.0077	-50	c.57 others(61): Show c.5747_*5796delCCAGCCATTCATTCATCTATCCATCCATCCATCA TCCACCCATTCATCAT	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		4261		chr19	TogoVar
PTBP2_chr1_96716784_96820049	96762453	CCCACCTC others(43): Show CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCC G	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	364	0.0028	-50	c.116 others(67): Show c.116-7200_116-7151delGCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCTGGGGGCTGACCCCC	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112277896	CATAACAT others(43): Show CATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA T	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02818.hp2 HG02257.hp2 HG02258.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0032 a0001c0001t0007 a0001c0001t0032	a0001c0001t0007g0340 a0001c0001t0007g0341 a0001c0001t0032g0312 a0001c0001t0007g0340 a0001c0001t0007g0341 a0001c0001t0032g0312	3	342	0.0088	-50	c.35- others(65): Show c.35-1933_35-1884delATTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(43): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0006 a0001c0001t0049g0006	2	354	0.0057	-50	c.69 others(59): Show c.691_*740delATATATATATATATATATATAATATAATATATATAT ATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	691		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(43): Show AATATATATATATATATATATATTATATTATATATATATATATATATATA T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0294 a0001c0001t0147g0294	1	354	0.0028	-50	c.68 others(59): Show c.689_*738delATATATATATATATATATATATAATATAATATATAT ATATATATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	689		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429616	CGTCCCCG others(43): Show CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCACACAGTCC A	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	323	0.0031	-50	c.405 others(67): Show c.405-1270_405-1221delACACAGTCCAGTCCCCGCTGTAAGGACC AGGTGGCGGGGACAGGGTGAGC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN12_chr7_77532295_77645069	77533708	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01256.hp1 NA20805.hp2 HG00140.hp2 HG01256.hp1 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171	3	310	0.0097	-50	c.-38 others(61): Show c.-3838_-3789delCCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGAC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3586		chr7	TogoVar

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