Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02165.hp2 HG03654.hp2 others(1): Show HG01981.hp1 HG02165.hp2 HG03654.hp2 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0016 a0001c0001 a0001c0002 a0003c0016	a0001c0001t0133 a0001c0002t0001 a0001c0002t0113 others(1): Show a0001c0001t0133 a0001c0002t0001 a0001c0002t0113 a0003c0016t0001	a0001c0001t0133g0205 a0001c0002t0001g0111 a0001c0002t0113g0051 others(1): Show a0001c0001t0133g0205 a0001c0002t0001g0111 a0001c0002t0113g0051 a0003c0016t0001g0035	4	272	0.0147	52	c.581 others(67): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01081.hp2 others(13): Show HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01993.hp2 HG02004.hp2 HG02273.hp2 NA18949.hp1 NA18988.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp1 NA19064.hp2 NA19074.hp1 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0001 a0001c0002t0006 others(4): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0006 a0001c0002t0020 a0001c0002t0081 a0001c0002t0083 a0001c0002t0157	a0001c0001t0016g0114 a0001c0002t0001g0032 a0001c0002t0001g0045 others(13): Show a0001c0001t0016g0114 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0134 a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0179 a0001c0002t0006g0103 a0001c0002t0020g0153 a0001c0002t0081g0115 a0001c0002t0083g0146 a0001c0002t0157g0230	16	272	0.0588	52	c.581 others(67): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGGAGG others(45): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02135.hp1 others(3): Show HG00558.hp1 HG02027.hp2 HG02135.hp1 HG03491.hp1 NA19007.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0017 a0001c0001t0030 a0001c0001t0054 others(3): Show a0001c0001t0017 a0001c0001t0030 a0001c0001t0054 a0001c0001t0106 a0001c0002t0116 a0003c0005t0066	a0001c0001t0017g0189 a0001c0001t0030g0001 a0001c0001t0054g0120 others(3): Show a0001c0001t0017g0189 a0001c0001t0030g0001 a0001c0001t0054g0120 a0001c0001t0106g0107 a0001c0002t0116g0052 a0003c0005t0066g0083	6	272	0.0221	52	c.581 others(67): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0246 a0001c0001t0028g0246	1	272	0.0037	52	c.581 others(67): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20752.hp2 HG03239.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0180 a0001c0001t0005g0171 a0001c0001t0002g0180 a0001c0001t0005g0171	2	272	0.0074	52	c.581 others(67): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0031 a0001c0001t0014g0031	1	272	0.0037	52	c.581 others(67): Show c.581+207_581+208insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0048 a0001c0001t0059g0048	1	272	0.0037	52	c.581 others(67): Show c.581+207_581+208insGCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG01109.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0161 a0001c0001t0047 a0001c0001t0161	a0001c0001t0047g0184 a0001c0001t0161g0259 a0001c0001t0047g0184 a0001c0001t0161g0259	2	272	0.0074	52	c.581 others(67): Show c.581+207_581+208insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGGAGG others(45): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	272	0.0037	52	c.581 others(67): Show c.581+207_581+208insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(45): Show TTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0103 a0002c0003t0003g0103	1	380	0.0026	52	c.414 others(69): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(45): Show CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18991.hp2 NA18957.hp1 NA18991.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0019 a0002c0003t0003 a0002c0003t0019	a0002c0003t0003g0036 a0002c0003t0019g0036 a0002c0003t0003g0036 a0002c0003t0019g0036	2	380	0.0053	52	c.414 others(69): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(45): Show CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0101 a0002c0003t0003g0101	1	380	0.0026	52	c.414 others(69): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18962.hp1 HG03516.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0164 a0001c0001t0001g0189	2	370	0.0054	52	c.859 others(69): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12870305	A A	ATATATAT others(45): Show ATATATATACGTATATATATACGTGTATATATATATACGTATATATATAC GTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0106 a0001c0001t0015g0106	1	370	0.0027	52	c.70- others(69): Show c.70-11052_70-11051insCACGTATATATATACGTATATATATATA CACGTATATATATACGTATATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75481628	C C	CCCGGCCA others(45): Show CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0083 a0001c0001t0028g0083	1	326	0.0031	52	c.106 others(71): Show c.1063-1715_1063-1714insCAGGCGGGGGGCTGACCCCCCTACCT CCCTCCCGGACGGGGCGGCTGGCCGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8331102	A A	ATTTTTCA others(45): Show ATTTTTCAAGCAAATTGCATTTTTTAACTGAGGTACCATAATATAGCAAC AAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0002 a0001c0007t0021g0002	1	34	0.0294	52	c.553 others(69): Show c.5534+479_5534+480insATTGTTGCTATATTATGGTACCTCAGTT AAAAAATGCAATTTGCTTGAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	44/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8948441	A A	ATATATAT others(45): Show ATATATATTTATATATATATTTATATATTTATATATATATTTATATATAT ATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG02257.hp1 others(3): Show HG00642.hp1 HG01099.hp1 HG02257.hp1 HG02622.hp1 HG02622.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0018	a0001c0001t0013 a0001c0002t0001 a0001c0002t0011 others(3): Show a0001c0001t0013 a0001c0002t0001 a0001c0002t0011 a0001c0003t0007 a0001c0013t0012 a0001c0018t0004	a0001c0001t0013g0022 a0001c0002t0001g0009 a0001c0002t0011g0030 others(3): Show a0001c0001t0013g0022 a0001c0002t0001g0009 a0001c0002t0011g0030 a0001c0003t0007g0029 a0001c0013t0012g0014 a0001c0018t0004g0020	6	34	0.1765	52	c.-10 others(73): Show c.-104+70255_-104+70256insAATATATATATAAATATATATATA AATATATAAATATATATATAAATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRQ_chr12_80439235_80685273	80558111	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	178	0.0056	52	c.428 others(71): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	1	62	0.0161	52	c.384 others(69): Show c.3847-899_3847-898insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972267	A A	AGGAGAGG others(45): Show AGGAGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0277 a0001c0002t0004g0277	1	334	0.0030	52	c.150 others(71): Show c.1506+2383_1506+2384insCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCTCCTCTCCTCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972267	A A	AGGAGAGG others(45): Show AGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0283 a0001c0002t0004g0283	1	334	0.0030	52	c.150 others(71): Show c.1506+2383_1506+2384insCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCTCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUSL1_chr1_1303597_1316677	1310768	T T	TGGGCGGC others(45): Show TGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGT CAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03491.hp2 HG02451.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	352	0.0057	52	c.700 others(65): Show c.700-67_700-16dupACGGAGGATGACGGCTGTGCTGGTGGGTCACG GGCGGCTCTGGGTCACAGGT	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2A_chr5_160086339_160124450	160109780	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATAAAATAATATA ATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	384	0.0026	52	c.584 others(69): Show c.584+9024_584+9025insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109782	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATAAAATAATATA ATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	384	0.0026	52	c.584 others(69): Show c.584+9022_584+9023insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132403992	T T	TAGGACGG others(45): Show TAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCCAGGGCTCC TGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01123.hp1 others(1): Show HG00323.hp1 HG01074.hp2 HG01123.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0012 a0001c0001t0001g0187	4	374	0.0107	52	c.126 others(67): Show c.126-594_126-543dupCCAGGGCTCCTGCAGGACGGCATTCTCCAG GGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132404034	A A	AGGGCTCC others(45): Show AGGGCTCCTGCAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCT TCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0199 a0001c0001t0012g0199	1	374	0.0027	52	c.126 others(67): Show c.126-578_126-527dupACGGCATTCTCCAGGGCTCCTGCAGGACGG CATTCTTCTGGGCTCCTGCAGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXDN_chr2_1626887_1749515	1658081	T T	TCCCCCTC others(45): Show TCCCCCTCTCTCTCCCTCCCCCTCTCTCTCTCCCTCCCCCTCTCTCTCTC TCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0304 a0001c0006t0027g0304	1	322	0.0031	52	c.183 others(71): Show c.1837+2799_1837+2800insGGAGAGAGAGAGAGGGGGAGGGAGAG AGAGAGGGGGAGGGAGAGAGAGGGGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(45): Show TATATATATATATATATCATATATATATAACATATATATAACATATATAT AAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0366 a0001c0003t0001g0366	1	442	0.0023	52	c.120 others(69): Show c.120+2328_120+2329insTATATATCATATATATATAACATATATA TAACATATATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(45): Show TATATATATATATCATATATATATAACATATATATATATAACATATATAT AAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	442	0.0023	52	c.120 others(69): Show c.120+2328_120+2329insTATCATATATATATAACATATATATATA TAACATATATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365529	T T	TATATATA others(45): Show TATATATATAATATATATATTATATATTATATATATTATATATATAATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	384	0.0026	52	c.340 others(71): Show c.340+14778_340+14779insTATATATTATATATATAATATATATA ATATATAATATATATATTATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAB31_chr18_9703301_9867551	9716910	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03017.hp2 HG03225.hp1 others(4): Show HG02280.hp1 HG03017.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0171 others(4): Show a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0171 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0005g0177 a0001c0001t0013g0172	7	322	0.0217	52	c.39+ others(67): Show c.39+8489_39+8490insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTGT GTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	220	0.0046	52	c.497 others(69): Show c.497-5551_497-5550insATATATATATATATATATATATATATAT ATATATATATATATGTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40B_chr17_82649973_82703698	82671546	T T	TGTACTCA others(45): Show TGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACACACTCAC ACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02886.hp1 others(5): Show HG01891.hp1 HG02145.hp2 HG02886.hp1 HG02970.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 a0001c0001t0037	a0001c0001t0001g0147 a0001c0001t0005g0275 a0001c0001t0007g0225 others(5): Show a0001c0001t0001g0147 a0001c0001t0005g0275 a0001c0001t0007g0225 a0001c0001t0007g0254 a0001c0001t0007g0274 a0001c0001t0007g0279 a0001c0001t0034g0273 a0001c0001t0037g0318	8	338	0.0237	52	c.143 others(69): Show c.143-6991_143-6990insTGTGTGAGTGTGTGTGTTTTAGAGTGAC GGGGTGGGGTGTGTCAGTGAGTAC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40C_chr16_585066_634268	585271	C C	CAGCTGCC others(45): Show CAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02647.hp2 others(1): Show HG01106.hp1 HG02615.hp1 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0011 a0001c0001t0001g0127 a0001c0001t0001g0150	4	350	0.0114	52	c.-50 others(63): Show c.-5021_-5020insAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTGCCTCCCGCTCCCCCT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		4794		chr16	TogoVar
RAB40C_chr16_585066_634268	585333	C C	CCGGGTCC others(45): Show CCGGGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCC CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	350	0.0029	52	c.-49 others(63): Show c.-4959_-4958insCGGGTCCACCAACACCCCCAACCTGTGCCTCCCG CTCCCCCCAGCTGCCCAT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		4732		chr16	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	398	0.0025	52	c.219 others(67): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(45): Show TACATACACACACACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	398	0.0025	52	c.219 others(67): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(45): Show TACATACATACATACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	398	0.0025	52	c.219 others(67): Show c.219-442_219-441insTACATACATACACACACACACACACACACA CACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(45): Show TACATACATACATATACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	398	0.0025	52	c.219 others(67): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(45): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0297 a0001c0003t0004g0297	1	354	0.0028	52	c.496 others(69): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RABGAP1L_chr1_174154520_175000308	174327975	A A	ATACATAT others(45): Show ATACATATATATATATACGTATATATATATATATACGTATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	272	0.0037	52	c.146 others(73): Show c.1465+22850_1465+22851insCATATATATATATACGTATATATA TATATATACGTATATATATATATACGTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATACACATA TAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0152 a0001c0001t0013g0152	1	272	0.0037	52	c.171 others(73): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATATATATACACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02717.hp2 HG03516.hp1 HG01943.hp1 HG02717.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0121 a0001c0001t0002g0134 a0001c0001t0002g0096 a0001c0001t0002g0121 a0001c0001t0002g0134	3	272	0.0110	52	c.234 others(73): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37246803	A A	ATTTCACC others(45): Show ATTTCACCCAGTTTCTTCTATGCATAAATCATTTGTGTAACCAAGGTATA TTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	448	0.0022	52	c.-26 others(63): Show c.-2656_-2655insAAATATACCTTGGTTACACAAATGATTTATGCAT AGAAGAAACTGGGTGAAA	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding		2535		chr22	TogoVar
RAD21_chr8_116840934_116879776	116844673	T T	TAGTGTTA others(45): Show TAGTGTTACATACTAAGTTAAAGTGTATGTAAACTAAGTTAAAGTGTATG TAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG03486.hp1 others(1): Show HG02717.hp2 HG02970.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0011 a0001c0001t0010g0011	4	428	0.0094	52	c.28 others(63): Show c.2826_*2827insCTACATACACTTTAACTTAGTTTACATACACTTT AACTTAGTATGTAACACT	RAD21	ENSG00000164754.16	transcript	ENST00000297338.7	protein_coding		1260		chr8	TogoVar
RAD51B_chr14_67814779_68483093	68072079	A A	AAATATAT others(45): Show AAATATATATAATTATATATATTTATATATAAATATATATAATTATATAT ATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	84	0.0119	52	c.756 others(73): Show c.756+184875_756+184876insAATATATATAATTATATATATTTA TATATAAATATATATAATTATATATATT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10			chr14	TogoVar
RAI14_chr5_34651328_34837612	34665178	C C	CATATACA others(45): Show CATATACATACATATATATATACATACATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0157 a0002c0005t0004g0157	1	254	0.0039	52	c.-49 others(69): Show c.-49+8708_-49+8709insCATACATATATATATACATACATATATA TATATATATATATATATATATATA	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665178	C C	CATATACA others(45): Show CATATACATACATATATATATATACATACATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	254	0.0039	52	c.-49 others(69): Show c.-49+8708_-49+8709insCATACATATATATATATACATACATATA TATATATATATATATATATATATA	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG02630.hp2 HG00140.hp2 HG01081.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0067 a0001c0001t0002g0057 a0001c0001t0013g0019 a0001c0001t0001g0067 a0001c0001t0002g0057 a0001c0001t0013g0019	3	82	0.0366	52	c.-24 others(73): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	82	0.0122	52	c.257 others(71): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATATATATATATATATATATACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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