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	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP3R1_chr2_68173857_68257532	68204361	T T	TATATTCT others(11): Show TATATTCTGATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0024 a0001c0001t0011g0023 a0001c0001t0011g0024	2	398	0.0050	18	c.43+ others(35): Show c.43+12730_43+12731insGTATATATATCAGAATAT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68209358	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19060.hp2 NA19067.hp2 NA19056.hp1 NA19060.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237	3	398	0.0075	18	c.43+ others(33): Show c.43+7716_43+7733dupTTTTTTTTTTTTTTTTTT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68217039	C C	CACACACA others(11): Show CACACACACACACACGCAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03540.hp1 HG02809.hp2 HG03041.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0033 a0001c0002t0003g0001 a0001c0002t0003g0033	3	398	0.0075	18	c.43+ others(29): Show c.43+52_43+53insCTGCGTGTGTGTGTGTGT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68229973	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02698.hp2 NA18959.hp1 others(3): Show HG00140.hp1 HG02698.hp2 NA18959.hp1 NA18986.hp2 NA18987.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0031 a0001c0001t0003g0044 a0001c0001t0003g0066 others(3): Show a0001c0001t0003g0031 a0001c0001t0003g0044 a0001c0001t0003g0066 a0001c0001t0003g0076 a0001c0001t0003g0104 a0001c0001t0033g0129	6	398	0.0151	18	c.4-1 others(33): Show c.4-12860_4-12843dupGTGTGTGTGTGTGTGTGT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	1/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68253636	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0029 a0001c0002t0029g0029	1	398	0.0025	18	c.-15 others(29): Show c.-1510_-1509insTCTCTCACACACACACAC	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding		1105		chr2	TogoVar
PPP4R2_chr3_72991811_73074198	73066239	C C	CATACATA others(11): Show CATACATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18966.hp2 NA18945.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0060 a0001c0002t0050 a0001c0002t0060	a0001c0002t0050g0043 a0001c0002t0060g0052 a0001c0002t0050g0043 a0001c0002t0060g0052	2	360	0.0056	18	c.52 others(27): Show c.520_*521insCATATATATATATATATA	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	9/9	521	INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP4R3A_chr14_91452508_91515310	91466940	A A	AACACACA others(11): Show AACACACACAAACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	370	0.0027	18	c.166 others(37): Show c.1661-1522_1661-1521insGTGTGTGTTTGTGTGTGT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91466940	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02135.hp1 HG02145.hp1 others(2): Show HG00735.hp1 HG02135.hp1 HG02145.hp1 NA18945.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0281 others(2): Show a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0281 a0001c0001t0001g0341 a0001c0001t0002g0134	5	370	0.0135	18	c.166 others(37): Show c.1661-1539_1661-1522dupGTGTGTGTGTGTGTGTGT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01934.hp1 HG02074.hp1 others(3): Show HG01515.hp2 HG01934.hp1 HG02074.hp1 HG02129.hp2 HG02886.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0001t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0205 a0001c0001t0001g0235 a0001c0001t0001g0338 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0235 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0010g0350 a0001c0003t0001g0354	6	370	0.0162	18	c.166 others(37): Show c.1660+2152_1660+2169dupTTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91495302	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG01123.hp1 others(35): Show HG00597.hp2 HG00733.hp2 HG01123.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02738.hp2 HG02965.hp2 HG03516.hp2 HG03669.hp1 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18993.hp2 NA19006.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp2 NA19077.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0004t0003	a0001c0001t0001g0163 a0001c0001t0002g0003 a0001c0001t0002g0032 others(34): Show a0001c0001t0001g0163 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0330 a0001c0001t0003g0337 a0001c0001t0008g0008 a0001c0004t0003g0320 a0001c0004t0003g0326	38	370	0.1027	18	c.143 others(35): Show c.143-4518_143-4501dupCACACACACACACACACA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	382	0.0026	18	c.143 others(33): Show c.143-369_143-352dupTTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP5C_chr19_46342087_46395975	46389460	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18998.hp2 HG00438.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0002 a0001c0004t0002g0002 a0001c0002t0002g0002 a0001c0004t0002g0002	2	394	0.0051	18	c.135 others(35): Show c.1356-590_1356-589insCACACACACACACACAGA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46395633	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0310 a0001c0003t0011g0310	1	394	0.0025	18	c.52 others(29): Show c.5287_*5288insAAAAAAAAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		4659		chr19	TogoVar
PPP5C_chr19_46342087_46395975	46395633	C C	CAAAAAAC others(11): Show CAAAAAACAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	394	0.0025	18	c.52 others(29): Show c.5287_*5288insAAAAAACAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		4659		chr19	TogoVar
PPP6C_chr9_125141573_125194803	125188793	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00642.hp2 others(11): Show HG00099.hp1 HG00609.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG02970.hp2 HG03195.hp1 HG03831.hp1 HG03834.hp2 NA18943.hp1 NA18973.hp1 NA19005.hp2 NA19065.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 others(11): Show a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0222 a0001c0001t0007g0223 a0001c0001t0012g0226 a0001c0001t0012g0227 a0001c0001t0013g0218	14	394	0.0355	18	c.75+ others(31): Show c.75+833_75+850dupATTATTATTATTATTATT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	1/6			chr9	TogoVar
PPP6R1_chr19_55224779_55264017	55261953	A A	AGGAGCTA others(11): Show AGGAGCTAGACCACCAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	378	0.0027	18	c.-35 others(29): Show c.-3526_-3525insCGCTGGTGGTCTAGCTCC	PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding		2937		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp1 HG02293.hp2 others(4): Show HG01261.hp1 HG01981.hp1 HG02293.hp2 HG02622.hp2 HG02698.hp1 HG02922.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0026 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0003 a0001c0002t0016	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 others(4): Show a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0271 a0001c0001t0026g0289 a0001c0002t0003g0071 a0001c0002t0016g0276	7	340	0.0206	18	c.-17 others(35): Show c.-17+3691_-17+3708dupTTTTTTTTTTTTTTTTTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477735	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0244 a0001c0001t0008g0244	1	252	0.0040	18	c.-15 others(39): Show c.-158+16909_-158+16910insTATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477737	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0246	1	252	0.0040	18	c.-15 others(39): Show c.-158+16911_-158+16912insTATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477739	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02258.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0245 a0001c0001t0008g0240 a0001c0001t0002g0245 a0001c0001t0008g0240	2	252	0.0079	18	c.-15 others(39): Show c.-158+16913_-158+16914insTATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0174 a0001c0001t0016g0174	1	252	0.0040	18	c.-15 others(39): Show c.-158+16915_-158+16916insAAAAAAAATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	252	0.0040	18	c.-15 others(39): Show c.-158+16915_-158+16916insAAAATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68478647	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	252	0.0040	18	c.-15 others(39): Show c.-158+17828_-158+17845dupTTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	252	0.0040	18	c.-15 others(39): Show c.-157-13070_-157-13053dupAAAAAAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68508374	C C	CCCACCTC others(11): Show CCCACCTCCACCTCTCACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	252	0.0040	18	c.-15 others(39): Show c.-157-11126_-157-11109dupCCACCTCCACCTCTCACA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68511463	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02055.hp1 HG02109.hp2 others(9): Show HG01257.hp1 HG02055.hp1 HG02109.hp2 HG02886.hp2 HG02895.hp2 HG03516.hp1 HG03834.hp1 HG04228.hp2 NA18964.hp2 NA18998.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012	a0001c0001t0002g0013 a0001c0001t0002g0185 a0001c0001t0002g0200 others(9): Show a0001c0001t0002g0013 a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0215 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0005g0219 a0001c0001t0008g0242 a0001c0001t0008g0244 a0001c0001t0008g0246 a0001c0001t0012g0184	12	252	0.0476	18	c.-15 others(37): Show c.-157-8023_-157-8006dupGTGTGTGTGTGTGTGTGT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573114	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02809.hp1 NA18994.hp1 others(1): Show HG01978.hp2 HG02809.hp1 NA18994.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0121	4	252	0.0159	18	c.134 others(35): Show c.1344-972_1344-955dupTATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573114	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19077.hp2 NA18957.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0074 a0001c0001t0001g0090	2	252	0.0079	18	c.134 others(35): Show c.1344-994_1344-993insTTATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPT1_chr1_40067712_40102252	40089286	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18950.hp2 NA18959.hp1 others(1): Show HG02738.hp1 NA18950.hp2 NA18959.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 others(1): Show a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0004g0171	4	396	0.0101	18	c.536 others(33): Show c.536+123_536+124insTTTTTTTTTTTTTTTTTT	PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8			chr1	TogoVar
PPWD1_chr5_65558296_65592549	65573516	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	384	0.0052	18	c.969 others(35): Show c.969+1250_969+1267dupTTTTTTTTTTTTTTTTTT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01952.hp1 HG01993.hp1 others(8): Show HG00408.hp1 HG01952.hp1 HG01993.hp1 HG02145.hp1 HG03209.hp1 HG03239.hp1 NA18947.hp2 NA18954.hp2 NA18959.hp2 NA19001.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0110 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0002g0116	11	384	0.0287	18	c.42 others(29): Show c.4249_*4250insTATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAC2_chr17_48718185_48729758	48728875	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	18	c.41 others(29): Show c.4192_*4193insTCTCTCTCTCTCTCTCTC	PRAC2	ENSG00000229637.4	transcript	ENST00000422730.4	protein_coding		4118		chr17	TogoVar
PRAG1_chr8_8312736_8391439	8345046	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0172 a0004c0004t0001g0172	1	336	0.0030	18	c.216 others(37): Show c.2163-5429_2163-5412dupACACACACACACACACAC	PRAG1	ENSG00000275342.6	transcript	ENST00000615670.5	protein_coding	3/5			chr8	TogoVar
PRAM1_chr19_8485056_8507640	8507047	C C	CCCCTCCT others(11): Show CCCCTCCTCATTCCCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	18	c.-44 others(29): Show c.-4457_-4456insCCTTGGGAATGAGGAGGG	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding		4408		chr19	TogoVar
PRAMEF10_chr1_12887896_12903270	12902412	C C	CAGTTAAC others(11): Show CAGTTAACTGTTAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0060 a0060	a0060c0056 a0060c0056	a0060c0056t0001 a0060c0056t0001	a0060c0056t0001g0110 a0060c0056t0001g0110	1	377	0.0027	18	c.-42 others(29): Show c.-4223_-4222insATTTATTAACAGTTAACT	PRAMEF10	ENSG00000187545.5	transcript	ENST00000235347.4	protein_coding		4143		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349220	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20752.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0003g0004 a0001c0001t0001g0011 a0001c0001t0003g0004	2	256	0.0078	18	c.-21 others(29): Show c.-2190_-2189insTTCTTTCTTTCTTTCTTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2087		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349224	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	256	0.0039	18	c.-21 others(29): Show c.-2194_-2193insTTCTTTCTTTCTTTCTTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2091		chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417908	A A	AGTTGTGT others(11): Show AGTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	442	0.0023	18	c.288 others(33): Show c.288-214_288-213insGTTGTGTGTGTGTGTGTG	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3			chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417908	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01106.hp1 others(17): Show HG00597.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01981.hp1 HG02486.hp1 HG03688.hp1 HG03834.hp1 NA18944.hp1 NA18950.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA19011.hp2 NA19055.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0001g0157 a0001c0002t0001g0034 a0002c0003t0001g0007 a0002c0003t0001g0017 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0121 a0002c0003t0001g0147 a0002c0003t0001g0150 a0002c0003t0001g0280 a0002c0003t0001g0286	20	442	0.0453	18	c.288 others(33): Show c.288-213_288-212insGTGTGTGTGTGTGTGTGT	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156792053	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	350	0.0029	18	c.117 others(35): Show c.1179+272_1179+289dupTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTGTTTTT others(11): Show GTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	350	0.0029	18	c.132 others(35): Show c.1323+478_1323+479insGTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18973.hp1 NA19067.hp2 HG01934.hp1 NA18973.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0286	3	350	0.0086	18	c.132 others(35): Show c.1323+490_1323+491insGTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp1 HG01891.hp1 others(11): Show HG00673.hp1 HG01261.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG04204.hp1 NA18940.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0277 others(11): Show a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0312	14	350	0.0400	18	c.132 others(35): Show c.1323+484_1323+501dupTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCP_chr11_82817936_82905430	82882875	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02451.hp1 HG02647.hp2 others(9): Show HG00597.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp1 NA18941.hp1 NA19084.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0022 a0001c0004t0015 a0002c0003t0001	a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0006g0080 others(6): Show a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0006g0080 a0001c0001t0007g0007 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0022g0093 a0001c0004t0015g0094 a0002c0003t0001g0003	12	320	0.0375	18	c.168 others(37): Show c.168+17359_168+17360insAGTGTGTGTGTGTGTGTG	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	1/8			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129903300	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0218 a0001c0051t0001g0218	1	326	0.0031	18	c.326 others(35): Show c.3268-802_3268-785dupATTATTATTATTATTATT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	20/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129923643	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02056.hp1 HG02071.hp1 others(5): Show HG00738.hp2 HG02056.hp1 HG02071.hp1 HG02451.hp2 HG02886.hp2 NA19058.hp1 NA19062.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0009 a0002c0008 others(3): Show a0001c0003 a0001c0009 a0002c0008 a0003c0002 a0003c0023 a0004c0007	a0001c0003t0001 a0001c0009t0001 a0002c0008t0006 others(3): Show a0001c0003t0001 a0001c0009t0001 a0002c0008t0006 a0003c0002t0001 a0003c0023t0009 a0004c0007t0002	a0001c0003t0001g0138 a0001c0003t0001g0213 a0001c0009t0001g0011 others(5): Show a0001c0003t0001g0138 a0001c0003t0001g0213 a0001c0009t0001g0011 a0002c0008t0006g0175 a0003c0002t0001g0102 a0003c0002t0001g0114 a0003c0023t0009g0070 a0004c0007t0002g0298	8	326	0.0245	18	c.187 others(35): Show c.1879-258_1879-241dupTCTCTCTCTCTCTCTCTC	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	12/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129923687	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0009 a0006c0032t0009	a0006c0032t0009g0007 a0006c0032t0009g0007	1	326	0.0031	18	c.187 others(35): Show c.1879-285_1879-284insCCTCTCTCTCTCTCTCTC	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	12/20			chr11	TogoVar
PRDM11_chr11_45141639_45240109	45236654	T T	TGTGTGTG others(11): Show TGTGTGTGTGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0067 a0001c0002t0006g0067	1	308	0.0033	18	c.84 others(29): Show c.8495_*8496insGTGTGTGTGAGAGAGAGA	PRDM11	ENSG00000019485.14	transcript	ENST00000683152.1	protein_coding		1546		chr11	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02148.hp1 NA19011.hp2 HG02132.hp2 HG02148.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0087 a0001c0002t0002g0123 a0001c0009t0002g0167 a0001c0002t0002g0087 a0001c0002t0002g0123 a0001c0009t0002g0167	3	392	0.0077	18	c.683 others(33): Show c.683-588_683-587insATATATATATATATTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM13_chr6_99601833_99620562	99611691	C C	CTGGAATT others(11): Show CTGGAATTCTTCCCTATTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	442	0.0023	18	c.398 others(35): Show c.398-1340_398-1323dupGGAATTCTTCCCTATTGT	PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar

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