Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	81	0.0123	43	c.174 others(60): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATTTTTTTT		PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02071.hp1 HG02004.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0251 a0001c0001t0035g0128 a0001c0001t0002g0251 a0001c0001t0035g0128	2	59	0.0339	43	c.802 others(60): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13						chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0219 a0001c0003t0005g0219	1	180	0.0056	43	c.-20 others(54): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATATAT ATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTGER3_chr1_70965782_71052816	71049189	A A	ATACTATG others(36): Show ATACTATGCTTGACCCAGATCAACCTTCAGACCACGCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0344 a0004c0010t0002g0344	1	370	0.0027	43	c.-16 others(54): Show c.-1613_-1612insGTGGGGGGCGTGGTCTGAAGGTTGATCTGGGTCA AGCATAGTA		PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding					1374		chr1	TogoVar
PTK6_chr20_63523001_63542376	63536087	C C	CGCCCCCC others(36): Show CGCCCCCCCCACCTGGCCTCCCGCCCCCCCTCACCTGGCCTCCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	341	0.0029	43	c.230 others(58): Show c.230+955_230+997dupTGGAGGCCAGGTGAGGGGGGGCGGGAGGCC AGGTGGGGGGGGC		PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7						chr20	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	36	0.0278	43	c.272 others(62): Show c.2722-1452_2722-1451insATATATATATATATATATATATATAT ATATATATTTTTTTTTT		PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	62	0.0161	43	c.-2+ others(60): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT		PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4						chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	62	0.0161	43	c.-2+ others(60): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT		PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4						chr7	TogoVar
PTPN12_chr7_77532295_77645069	77573082	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	296	0.0034	43	c.208 others(60): Show c.208+1910_208+1911insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN23_chr3_47376021_47418435	47417909	G G	GGGAGGGG others(36): Show GGGAGGGGGGTGAGAGGGGGCGGGGGAGAAGTGAGAGGGGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	330	0.0030	43	c.47 others(54): Show c.4724_*4725insGGAGGGGGGTGAGAGGGGGCGGGGGAGAAGTGAG AGGGGGCGT		PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding					4475		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	58	0.0172	43	c.859 others(60): Show c.859-5436_859-5435insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	58	0.0172	43	c.859 others(60): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG00408.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0359 a0001c0001t0001g0348 a0001c0001t0001g0359	2	59	0.0339	43	c.859 others(60): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	59	0.0339	43	c.859 others(60): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530494	A A	ATATTATA others(36): Show ATATTATATTATAATATATTATAATATAATTTATTATATAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	324	0.0031	43	c.64- others(58): Show c.64-3276_64-3234dupATATTATATAATAAATTATATTATAATATA TTATAATATAATA		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12						chr15	TogoVar
PTPRQ_chr12_80439235_80685273	80447706	T T	TAAATAAA others(36): Show TAAATAAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02559.hp2 HG02717.hp1	a0011 a0034 a0011 a0034	a0011c0023 a0034c0057 a0011c0023 a0034c0057	a0011c0023t0002 a0034c0057t0005 a0011c0023t0002 a0034c0057t0005	a0011c0023t0002g0133 a0034c0057t0005g0134 a0011c0023t0002g0133 a0034c0057t0005g0134	2	176	0.0114	43	c.390 others(60): Show c.390+1989_390+1990insAAATAAAGGACCTCTTCAAGGAGAACTA CAAACCACTGCTCAA		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	3/44						chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTTCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0064 a0064	a0064c0032 a0064c0032	a0064c0032t0001 a0064c0032t0001	a0064c0032t0001g0018 a0064c0032t0001g0018	1	62	0.0161	43	c.428 others(62): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTTCTTTTCTTT		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0016 a0003c0020t0016	a0003c0020t0016g0029 a0003c0020t0016g0029	1	17	0.0588	43	c.384 others(60): Show c.3847-899_3847-898insATATATATATATATATATATATATATAT ATATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30						chr20	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(36): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0172 a0001c0002t0003g0172	1	160	0.0063	43	c.150 others(62): Show c.1506+2203_1506+2204insTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCC		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PWWP3A_chr19_1349959_1383429	1368875	C C	CCAGCCCA others(36): Show CCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp2 HG02155.hp2 others(4): Show HG02080.hp2 HG02129.hp2 HG02155.hp2 NA18944.hp2 NA18974.hp1 NA19057.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0005 a0001c0002t0001 a0002c0008t0005	a0001c0002t0001g0035 a0001c0002t0001g0172 a0001c0002t0001g0207 others(2): Show a0001c0002t0001g0035 a0001c0002t0001g0172 a0001c0002t0001g0207 a0002c0008t0005g0028 a0002c0008t0005g0150	7	408	0.0172	43	c.142 others(60): Show c.1423-348_1423-347insTCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGA		PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368887	A A	ATCGGGTC others(36): Show ATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	408	0.0025	43	c.142 others(60): Show c.1423-336_1423-335insTTCGGGTCCCCGGTGCCCACCTGCGTTC AGACCAGCCCAAGCC		PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDN_chr2_1626887_1749515	1639995	G G	GCCCCGGG others(36): Show GCCCCGGGTGAGTGAGAGGCCCTCAGTGCCGTGTCCTTCCTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0009 others(3): Show a0001 a0004 a0009 a0010 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0013 a0001c0015 a0001c0019 a0001c0020 a0001c0034 a0001c0035 a0001c0037 a0001c0039 a0001c0040 a0001c0045 a0001c0046 a0004c0036 a0004c0041 a0009c0027 a0010c0043 a0012c0021 a0014c0031	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0031 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0007t0006 a0001c0007t0029 a0001c0008t0002 a0001c0013t0002 a0001c0015t0003 a0001c0019t0003 a0001c0020t0003 a0001c0034t0003 a0001c0035t0003 a0001c0037t0006 a0001c0039t0006 a0001c0040t0030 a0001c0045t0002 a0001c0046t0003 a0004c0036t0003 a0004c0041t0002 a0009c0027t0002 a0010c0043t0006 a0012c0021t0002 a0014c0031t0002	a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0026 others(154): Show a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0008 a0001c0001t0003g0117 a0001c0001t0003g0182 a0001c0001t0003g0241 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0267 a0001c0001t0010g0318 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0092 a0001c0002t0002g0201 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0051 a0001c0002t0003g0054 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0074 a0001c0002t0003g0083 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0106 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0131 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0002t0003g0159 a0001c0002t0003g0169 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0002t0003g0279 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0002t0023g0063 a0001c0002t0032g0289 a0001c0003t0001g0264 a0001c0003t0002g0002 a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0023 a0001c0003t0002g0027 a0001c0003t0002g0033 a0001c0003t0002g0038 a0001c0003t0002g0080 a0001c0003t0002g0124 a0001c0003t0002g0236 a0001c0003t0002g0280 a0001c0003t0002g0287 a0001c0003t0002g0317 a0001c0003t0012g0123 a0001c0003t0012g0255 a0001c0007t0006g0076 a0001c0007t0006g0233 a0001c0007t0006g0234 a0001c0007t0006g0263 a0001c0007t0006g0321 a0001c0007t0029g0156 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0297 a0001c0008t0002g0298 a0001c0008t0002g0320 a0001c0013t0002g0307 a0001c0015t0003g0116 a0001c0015t0003g0118 a0001c0019t0003g0010 a0001c0020t0003g0015 a0001c0034t0003g0032 a0001c0035t0003g0099 a0001c0037t0006g0285 a0001c0039t0006g0045 a0001c0040t0030g0088 a0001c0045t0002g0119 a0001c0046t0003g0011 a0004c0036t0003g0036 a0004c0041t0002g0134 a0009c0027t0002g0129 a0010c0043t0006g0062 a0012c0021t0002g0251 a0014c0031t0002g0120	157	217	0.7235	43	c.395 others(60): Show c.3953-574_3953-573insACCAGGAAGGACACGGCACTGAGGGCCT CTCACTCACCCGGGG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	19/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1640025	G G	GTGTCCCT others(36): Show GTGTCCCTCCTGGTCCCCGGGTGAGTGAGGGGCCCTCAGTGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG03130.hp2 others(2): Show HG02257.hp1 HG02615.hp2 HG03130.hp2 HG03486.hp2 NA18906.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0011 a0002c0009t0026 a0002c0009t0011 a0002c0009t0026	a0002c0009t0011g0081 a0002c0009t0011g0149 a0002c0009t0011g0219 others(2): Show a0002c0009t0011g0081 a0002c0009t0011g0149 a0002c0009t0011g0219 a0002c0009t0011g0301 a0002c0009t0026g0237	5	141	0.0355	43	c.395 others(60): Show c.3953-604_3953-603insTGGCACTGAGGGCCCCTCACTCACCCGG GGACCAGGAGGGACA		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	19/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1640025	G G	GTGTCCTT others(36): Show GTGTCCTTCCTGGTCCCCGGGTGAGTGAGGGGCCCTCAGTGCCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01175.hp2 others(20): Show HG00621.hp2 HG01081.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02630.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA19240.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0016 others(4): Show a0001c0001 a0001c0005 a0001c0016 a0001c0022 a0001c0044 a0003c0018 a0003c0042	a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 others(10): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0005t0004 a0001c0005t0007 a0001c0005t0024 a0001c0016t0005 a0001c0016t0007 a0001c0022t0014 a0001c0044t0025 a0003c0018t0005 a0003c0018t0034 a0003c0042t0005	a0001c0001t0005g0055 a0001c0001t0005g0130 a0001c0001t0005g0132 others(20): Show a0001c0001t0005g0055 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0175 a0001c0001t0005g0212 a0001c0001t0005g0300 a0001c0001t0014g0152 a0001c0001t0019g0242 a0001c0005t0004g0248 a0001c0005t0007g0079 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0161 a0001c0005t0007g0204 a0001c0005t0007g0206 a0001c0005t0024g0203 a0001c0016t0005g0001 a0001c0016t0007g0064 a0001c0022t0014g0047 a0001c0044t0025g0210 a0003c0018t0005g0048 a0003c0018t0034g0247 a0003c0042t0005g0220	23	159	0.1447	43	c.395 others(60): Show c.3953-604_3953-603insTGGCACTGAGGGCCCCTCACTCACCCGG GGACCAGGAAGGACA		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	19/22						chr2	TogoVar
PYDC2_chr3_191456163_191466456	191463082	T T	TTCTTTCT others(36): Show TTCTTTCTTTTTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	43	c.16 others(54): Show c.1626_*1627insTCTTTCTTTTTCTCTCTCCCTCCCTCCCTCCCTC CCTCCCTCC		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1627		chr3	TogoVar
PYURF_chr4_88515998_88528776	88523585	C C	CGGTCGGC others(36): Show CGGTCGGCCAAAGGCCGCGACCCCGACGCGTGCAGGCACCTACG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0016 a0002c0004t0001g0016	1	444	0.0023	43	c.73_ others(49): Show c.73_115dupCGTAGGTGCCTGCACGCGTCGGGGTCGCGGCCTTTGGCC GACC	p.Arg others(4): Show p.Arg39fs	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding	1/2	191/1311	115/345	39/114			chr4	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(36): Show TATATATATATATATATATCATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	283	0.0035	43	c.120 others(60): Show c.120+2328_120+2329insTATATATATCATATATATATAACATATA TATAACATATATATA		QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(36): Show CATATATATAACATATATATATAACATATATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(44): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00597.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02165.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18980.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19087.hp2 NA19088.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0001 a0003c0004t0002 a0005c0007t0001 a0001c0001t0001 a0003c0004t0002 a0005c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0168 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0003c0004t0002g0003 a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0005c0007t0001g0009	47	234	0.2009	43	c.120 others(60): Show c.120+2389_120+2390insACATATATATATAACATATATATATAAC ATATATATATATATA		QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11B_chr19_8385360_8409434	8402274	T T	TCGCAGGT others(36): Show TCGCAGGTGAGCAGACGGAGACGCAGGCATCAGAGAGGTGTCTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0020 a0003c0008t0020	a0003c0008t0020g0051 a0003c0008t0020g0051	1	426	0.0023	43	c.426 others(53): Show c.426_430+38dupCGCAGGTGAGCAGACGGAGACGCAGGCATCAGAGA GGTGTCTG		RAB11B	ENSG00000185236.12	transcript	ENST00000328024.11	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB1B_chr11_66263639_66282492	66278140	G G	GGCCGGCT others(36): Show GGCCGGCTGGAGCCGCGGAGGCCTGACCCCAGGCCCCGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	424	0.0024	43	c.19 others(54): Show c.1902_*1903insGCCGGCTGGAGCCGCGGAGGCCTGACCCCAGGCC CCGCCCCGT		RAB1B	ENSG00000174903.16	transcript	ENST00000311481.11	protein_coding					649		chr11	TogoVar
RAB27A_chr15_55197966_55294813	55238742	C C	CAACAAAG others(36): Show CAACAAAGATCACTTTCAAATAATTCTGATCCTTTTTGGCTGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(15): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0028 a0003c0005t0003	a0001c0001t0001g0012 a0001c0001t0001g0300 a0001c0001t0003g0196 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0300 a0001c0001t0003g0196 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0012g0301 a0001c0001t0012g0303 a0001c0001t0012g0309 a0001c0001t0028g0289 a0003c0005t0003g0011	18	318	0.0566	43	c.-22 others(60): Show c.-22-3829_-22-3787dupACCAGCCAAAAAGGATCAGAATTATTTG AAAGTGATCTTTGTT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6						chr15	TogoVar
RAB40B_chr17_82649973_82703698	82691993	A A	AGCAGAGC others(36): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01081.hp1 others(22): Show HG00140.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp2 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02683.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 NA18971.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051	a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0277 others(22): Show a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0003g0074 a0001c0001t0004g0073 a0001c0001t0004g0302 a0001c0001t0005g0076 a0001c0001t0007g0059 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0010g0077 a0001c0001t0041g0070 a0001c0001t0049g0276 a0001c0001t0051g0058	25	279	0.0896	43	c.142 others(60): Show c.142+6419_142+6461dupCTGTCACCTCAGCCCACGGACCGTGCGG GCCCCACTGCTCTGC		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB40B_chr17_82649973_82703698	82692100	C C	CGGTCCGT others(36): Show CGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp1 HG01346.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0307 a0001c0001t0010g0306 a0001c0001t0004g0307 a0001c0001t0010g0306	2	336	0.0060	43	c.142 others(60): Show c.142+6354_142+6355insATGCGGGCCCCACTGCTCTGCCTGTCAC CTCAGCCCACGGACC		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(36): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01257.hp1 others(11): Show HG00738.hp2 HG01167.hp1 HG01257.hp1 HG01934.hp2 HG02165.hp1 NA18942.hp2 NA18948.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18985.hp1 NA19064.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 others(11): Show a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0005g0316	14	37	0.3784	43	c.496 others(60): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGACTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739278	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	332	0.0030	43	c.71- others(58): Show c.71-8456_71-8455insATATATATATATATATATATATATATATAT ATATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	253	0.0040	43	c.71- others(58): Show c.71-8460_71-8459insATATATATATATATATATATATATATATAT ATATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	40	0.0250	43	c.528 others(60): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01934.hp2 HG02083.hp1 others(3): Show HG00408.hp2 HG01934.hp2 HG02083.hp1 NA18948.hp1 NA18967.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0036 a0004c0005t0001 a0001c0001t0001 a0001c0001t0036 a0004c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0036g0057 a0004c0005t0001g0061	6	100	0.0600	43	c.234 others(64): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATTA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136833340	C C	CCCTGGGC others(36): Show CCCTGGGCTGCCCCGCCTGGGTCTGGGGGACCTGAACCTCCTTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0003 a0001c0022t0001g0003	1	328	0.0030	43	c.705 others(60): Show c.705+1012_705+1054dupTGCCTGGGCTGCCCCGCCTGGGTCTGGG GGACCTGAACCTCCT		RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
RAC2_chr22_37220270_37249269	37220831	G G	GTTCAATT others(36): Show GTTCAATTACCTCCCACTGGGTTCCTCCCACCTGGATTATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0006 a0001c0002t0011 a0001c0004t0001 a0001c0004t0005 a0001c0005t0006 a0001c0005t0017 a0001c0007t0001 a0001c0009t0006 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0002g0015 a0001c0001t0002g0216 a0001c0001t0004g0009 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0029 a0001c0001t0004g0050 a0001c0001t0004g0072 a0001c0001t0004g0086 a0001c0001t0004g0096 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0005g0021 a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0130 a0001c0001t0005g0202 a0001c0001t0005g0205 a0001c0001t0005g0211 a0001c0001t0009g0054 a0001c0001t0009g0201 a0001c0001t0009g0204 a0001c0001t0010g0049 a0001c0001t0012g0115 a0001c0002t0006g0208 a0001c0002t0011g0207 a0001c0004t0001g0040 a0001c0004t0001g0141 a0001c0004t0001g0153 a0001c0004t0001g0156 a0001c0004t0005g0014 a0001c0004t0005g0045 a0001c0004t0005g0063 a0001c0004t0005g0142 a0001c0004t0005g0144 a0001c0004t0005g0151 a0001c0004t0005g0152 a0001c0004t0005g0167 a0001c0005t0006g0164 a0001c0005t0017g0199 a0001c0007t0001g0064 a0001c0009t0006g0161 a0002c0006t0001g0076	229	446	0.5135	43	c.52 others(54): Show c.5210_*5211insTCCCATAATCCAGGTGGGAGGAACCCAGTGGGAG GTAATTGAA		RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding					4438		chr22	TogoVar
RACK1_chr5_181231897_181248906	181241426	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	273	0.0037	43	c.429 others(56): Show c.429+65_429+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		RACK1	ENSG00000204628.12	transcript	ENST00000512805.6	protein_coding	3/7						chr5	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0002g0082 a0001c0001t0001g0081 a0001c0001t0002g0082	2	61	0.0328	43	c.757 others(62): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGGGGGGGGG		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0058 a0004c0004t0001g0058	1	60	0.0167	43	c.757 others(62): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGGGGTGGGG		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATACATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0146 a0003c0013t0002g0146	1	234	0.0043	43	c.-27 others(54): Show c.-2770_-2769insAAAAATATATATATATGTATATATATATATATAT ATATATATA		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding					2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(36): Show TATATATATATATATATACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0054 a0003c0024t0054	a0003c0024t0054g0160 a0003c0024t0054g0160	1	184	0.0054	43	c.-27 others(54): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTATATATA TATATATAT		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding					2586		chr7	TogoVar
RAI1_chr17_17676458_17816453	17682348	C C	CAGCGGCC others(36): Show CAGCGGCCCCGGGGCCTGTGCGCAGGCCCCGAGGCCGGGCAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	250	0.0040	43	c.-14 others(60): Show c.-149+565_-149+607dupGGGGCCTGTGCGCAGGCCCCGAGGCCGG GCAGGAAGCGGCCCC		RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2837373	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAACACAAAAAAAGAAAACCCCCCTTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0132 a0001c0004t0007g0132	1	216	0.0046	43	c.80+ others(60): Show c.80+36823_80+36824insAAAAAAAAAAAAAAAAAACACAAAAAAA GAAAACCCCCCTTCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24						chr17	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	76	0.0132	43	c.187 others(58): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044393	C C	CTCACTCG others(36): Show CTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0009 a0001c0001t0001g0028	2	48	0.0417	43	c.278 others(60): Show c.278-3300_278-3299insCTCAGCGAGTGAGGCGGGGCGGGGGGGG GGGCTCAGCGAGTGA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114099842	G G	GCCCCCAC others(36): Show GCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	47	0.0213	43	c.56- others(60): Show c.56-26006_56-26005insTGGGGGGGCTGCTGTGGGGGGCTGTGGG GGGCTGCTGTGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar

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