Joint Open Genome and Omics Platform (JoGo)

Search Results

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
PFKP_chr10_3062548_3141802	3085587	A A	AGCACAGT others(163): Show AGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCCAACCCCTCCCCAG CACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCA CAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCCCAGCAC AGTCCCCCACTCCCTCCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0186 a0001c0005t0003g0186	1	402	0.0025	170	c.186 others(187): Show c.186+3139_186+3140insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTC CCCAGCACAGTCCCCCACTCCCTCCCCCGGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIEZO1_chr16_88710338_88790220	88713164	A A	ACCCGAGA others(163): Show ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0002 a0003c0005t0010g0002	1	282	0.0036	170	c.24 others(181): Show c.2440_*2441insGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2173		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728933	G G	TCTGAACC others(163): Show TCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAA CAAAGTGACCCTCGATGCTGGGGAACCCAGGACAGGCTGAACCCACAGCC CCATCTGCCACAGAGGGAACCTTGCGACCCAAAAACAAAGTGACCCTCGA TGCTGGGGAACCCAGGACATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0082 a0082	a0082c0113 a0082c0113	a0082c0113t0001 a0082c0113t0001	a0082c0113t0001g0223 a0082c0113t0001g0223	1	282	0.0036	170	c.319 others(189): Show c.3197-1272_3197-1271insATGTCCTGGGTTCCCCAGCATCGAGG GTCACTTTGTTTTTGGGTCGCAAGGTTCCCTCTGTGGCAGATGGGGCTGT GGGTTCAGCCTGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTG GGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGA	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729081	G G	GATGTCGG others(163): Show GATGTCGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAG AGGGAACCTCGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCC AGGACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGAC ACAAAAACAAAGTGACCCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG02630.hp2 HG02965.hp2	a0021 a0021	a0021c0069 a0021c0133 a0021c0069 a0021c0133	a0021c0069t0001 a0021c0133t0001 a0021c0069t0001 a0021c0133t0001	a0021c0069t0001g0114 a0021c0133t0001g0160 a0021c0069t0001g0114 a0021c0133t0001g0160	2	282	0.0071	170	c.319 others(189): Show c.3197-1421_3197-1420insGGAGGGTCACTTTGTTTTTGTGTCGC GAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCTGGGTT CCCCAGCATGGAGGGTCACTTTGTTTTTGTGTCGCGAGGTTCCCTCTGTG GCAGATGGGGCTGTGAGTTCAGCATGTCCTGGGTTCCCCGACAT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729110	C C	CCACAGCC others(163): Show CCACAGCCCCATCTGCCACAGAGGGAACCTTGCGACCCAAAAACAAAGTG ACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTG CCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGTTGGG GAACCCAGGACATGCTGATCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19011.hp1 HG03579.hp2 NA19011.hp1	a0017 a0068 a0017 a0068	a0017c0089 a0068c0047 a0017c0089 a0068c0047	a0017c0089t0001 a0068c0047t0001 a0017c0089t0001 a0068c0047t0001	a0017c0089t0001g0132 a0068c0047t0001g0095 a0017c0089t0001g0132 a0068c0047t0001g0095	2	282	0.0071	170	c.319 others(189): Show c.3197-1450_3197-1449insAGATCAGCATGTCCTGGGTTCCCCAA CATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGAT GGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTT TGTTTTTGGGTCGCAAGGTTCCCTCTGTGGCAGATGGGGCTGTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729474	G G	GAACCTCG others(163): Show GAACCTCGCGACACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGG ACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCA AAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATCTCAC AGCCCCATCTGCCACAGAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0043 a0043	a0043c0136 a0043c0136	a0043c0136t0003 a0043c0136t0003	a0043c0136t0003g0020 a0043c0136t0003g0020	1	282	0.0036	170	c.319 others(189): Show c.3197-1814_3197-1813insTCCTCTGTGGCAGATGGGGCTGTGAG ATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTGGGT CGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGAGTTCAGCATGTCCTGG GTTCCCCAGCATCGAGGGTCACTTTGTTTTTGTGTCGCGAGGTT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(163): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01255.hp2 others(8): Show HG00140.hp2 HG00280.hp2 HG01255.hp2 HG01346.hp2 HG01981.hp1 HG02145.hp1 HG03239.hp2 HG03927.hp1 NA18960.hp2 NA19080.hp2 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0056 a0003c0003t0002g0069 a0003c0003t0002g0073 others(8): Show a0003c0003t0002g0056 a0003c0003t0002g0069 a0003c0003t0002g0073 a0003c0003t0002g0076 a0003c0003t0002g0086 a0003c0003t0002g0089 a0003c0003t0002g0092 a0003c0003t0002g0116 a0003c0003t0002g0297 a0003c0003t0002g0298 a0003c0003t0002g0301	11	346	0.0318	170	c.200 others(189): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100315123	A A	AGGGAAGG others(163): Show AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	306	0.0033	170	c.349 others(189): Show c.349+14087_349+14088insCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(163): Show GCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0049 a0003c0007t0001g0049	1	134	0.0075	170	c.575 others(191): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGA GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(163): Show TTATATATATAAATATATATAAACGTTTATATATATAAATATATATAAAC GTTTATATATATAAATATATATAAACGTTTATATATATAAATATATATAA ACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATAT AAACGTTTATATATATAAATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0128 a0001c0001t0016g0128	1	186	0.0054	170	c.-15 others(189): Show c.-157+7562_-157+7563insTATAAATATATATAAACGTTTATATA TATAAATATATATAAACGTTTATATATATAAATATATATAAACGTTTATA TATATAAATATATATAAACGTTTATATATATAAATATATATAAACGTTTA TATATATAAATATATATAAACGTTTATATATATAAATATATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKP3_chr11_389209_409908	390478	C C	CGTCCTGA others(163): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGA CCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCC CTTCCCCAGAGGAGCGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03516.hp1 NA18522.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0197 a0001c0008t0001g0196 a0001c0008t0001g0198 a0001c0004t0001g0197 a0001c0008t0001g0196 a0001c0008t0001g0198	3	216	0.0139	170	c.-38 others(181): Show c.-3815_-3814insGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGA GATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGG GGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(163): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	216	0.0046	170	c.173 others(187): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(163): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0110 a0002c0013t0001g0110	1	216	0.0046	170	c.173 others(187): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCH1_chr3_155474881_155750071	155667914	A A	AAAAAAAA others(163): Show AAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGTGGCGTGTGCCTGT AATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTGCTTGAACCCAGGA GGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCACTCCAGCCTGGGT GACAGAGCAAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	264	0.0038	170	c.79+ others(187): Show c.79+36062_79+36231dupGAGATGGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGGG TTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLD4_chr14_104919879_104938236	104933637	C C	CGGGGAGG others(163): Show CGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGG GGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCCGGGGCTGAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(114): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0005c0005t0001 a0006c0006t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0018 a0001c0001t0005g0004 a0002c0002t0001g0022 a0005c0005t0001g0006 a0006c0006t0001g0002 a0008c0012t0001g0002	117	426	0.2747	170	c.67 others(179): Show c.673_*674insGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGG GGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGG AGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGA CGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		402		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	164885	G G	GCGGAGCT others(163): Show GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCAGAGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTGTGACAGGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG03579.hp2 HG02258.hp2 HG02451.hp2 HG03579.hp2	a0010 a0010	a0010c0014 a0010c0069 a0010c0014 a0010c0069	a0010c0014t0019 a0010c0014t0055 a0010c0069t0019 a0010c0014t0019 a0010c0014t0055 a0010c0069t0019	a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0069t0019g0204 a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0069t0019g0204	3	210	0.0143	170	c.347 others(189): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC AGTAATGCTCTGACGGGGCAGAGCTCACAGTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165741	C C	CTAATGCT others(163): Show CTAATGCTCTGACGGGGCAGAGCTCACACTAATGCTGTGACGGGGCGGGG CTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGG GCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT GTGACGGGGCGGGGCTCACAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0144 a0001c0001t0032g0144	1	210	0.0048	170	c.347 others(189): Show c.3476+2210_3476+2211insAGAGCTCACACTAATGCTGTGACGGG GCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GATGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165898	C C	CGGAGCTC others(163): Show CGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTG ACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAAT GCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTC ACAGTAATGCTCTGACGGGGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0133 a0012c0013t0133	a0012c0013t0133g0118 a0012c0013t0133g0118	1	210	0.0048	170	c.347 others(189): Show c.3476+2368_3476+2369insGTGACGGGGCGGGGCTCACAGTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGG GGCTCACAGTAATGCTCTGACGGGGTGGAGCTCACACTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166265	G G	GGCTCACA others(163): Show GGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACG GGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATG CTCTGATGGGGCGGGGCTCACACTAATGCTCTGATGGGGTGGGGCTCACA GTACTCCTCTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp1	a0008 a0008	a0008c0024 a0008c0025 a0008c0024 a0008c0025	a0008c0024t0021 a0008c0025t0045 a0008c0024t0021 a0008c0025t0045	a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172	3	210	0.0143	170	c.347 others(189): Show c.3476+2744_3476+2745insAGCTCACACTAATGCTGTGACGGGGC GGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCT GATGGGGCGGGGCTCACACTAATGCTCTGATGGGGTGGGGCTCACAGTAC TCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXDC2_chr10_19811432_20294856	20014371	C C	CTTCCTTC others(163): Show CTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTCCTTCCTTCCTTTT TTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTTCCTTCCTTCTCCC CACCTCCCTCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0164 a0001c0001t0015g0164	1	180	0.0056	170	c.324 others(189): Show c.324+12395_324+12396insCCTTCCTTGCTTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTC CTTCCTTCCTTTTTTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTT CCTTCCTTCTCCCCACCTCCCTCCCTCCTTCCCTTTCCTTCCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA5_chrX_152983824_152999116	152998756	T T	TATATATT others(163): Show TATATATTATATATAATATATATTATATATAATATATAATATATATTATA TATAAATATATTATTTATATATAATATAATATATATTATATATAAAAATA TATTTATATATAATATAATATATATTATATATAAAAATATATATAATATA TTATATATAAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG01884.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	286	0.0070	170	c.-50 others(181): Show c.-5054_-5053insTATATATATTTTTATATATAATATATTATATATA TTTTTATATATAATATATATTATATTATATATAAATATATTTTTATATAT AATATATATTATATTATATATAAATAATATATTTATATATAATATATATT ATATATTATATATAATATATATTATATATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4641		chrX	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(163): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATT CTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCA GTAATTCTAGAAATTATTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(51): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01358.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02273.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03017.hp2 HG03654.hp2 HG03704.hp2 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18986.hp1 NA18992.hp2 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0088 others(49): Show a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0088 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0002c0002t0001g0014	54	314	0.1720	170	c.187 others(187): Show c.187-1730_187-1561dupATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTC AGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATT ATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(163): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATT CTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCA GTAATTCTAGACATTATTCTA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	314	0.0032	170	c.187 others(187): Show c.187-1607_187-1606insCATTATTCTAGAATTACTCCTCAGTAAT TCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTA GAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTA ATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42347447	T T	TATTCTAG others(163): Show TATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTC CTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAA ATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTAC TCCTCAGTAATTCTAGAAATC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	314	0.0032	170	c.187 others(187): Show c.187-1561_187-1560insATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTC AGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATT ATTCTAGAATTACTCCTCAGTAATTCTAGAAATCATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLG_chr15_89311320_89339824	89325223	A A	AGAGTGAG others(163): Show AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	398	0.0025	170	c.194 others(187): Show c.1949+226_1949+227insACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCTCTCTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP2R3B_chrX_328933_391907	340719	G G	GCCCGTCC others(163): Show GCCCGTCCGTCCCCTCTCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTC TCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTCACCCTGGGCCGTCCTC TCGCCCGTCCGTCCCCTCACCCTGGGCCGTCCTCTCGCCCGTCCGTCCCC TCACCCTGGGCCGTCCTCTCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	25	0.0400	170	c.135 others(185): Show c.1351+45_1351+46insTGAGAGGACGGCCCAGGGTGAGGGGACGGA CGGGCGAGAGGACGGCCCAGGGTGAGGGGACGGACGGGCGAGAGGACGGC CCAGGGTGAGGGGACGGACGGGCGAGAGGACGGCCCAGGGAGAGGGGACG GACGGGCGAGAGGACGGCCCAGGGAGAGGGGACGGACGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCCCTCC others(163): Show CTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	227	0.0044	170	c.23 others(181): Show c.2337_*2338insTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993532	A A	ATGTGTGT others(163): Show ATGTGTGTGTATATATATACATATATATGTGTGTGTGTATATACATATAT ATGTGTGTATATATACACATATATGTGTGTGTATATATACATATATGTGT ATATATATACACACATATATGTGTATATATACACACACATATATATGTAT ATATATACACACACATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0003 a0002c0011t0006g0003	1	62	0.0161	170	c.89- others(189): Show c.89-107601_89-107600insCATATATGTGTGTGTATATATATACA TATATATGTGTGTGTATATATACACATATATGTGTGTATATATATACACA TATATGTATATATACACACACATATATGTGTATATATACACACATATATA TGTATATACACACACACATATATATGTATATATATACACACACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132419509	A A	AGGAAGTC others(163): Show AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGA GGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGCCT GGAGGAGGGGTCTCCTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA18522.hp2 HG02809.hp2 NA18522.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0080 a0003c0010t0001g0082 a0003c0010t0001g0080 a0003c0010t0001g0082	2	374	0.0054	170	c.24 others(181): Show c.2465_*2466insGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTC CTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1651		chr10	TogoVar
PXDN_chr2_1626887_1749515	1703921	G G	GGGAGGGC others(163): Show GGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGAC AGCTCCAGGTGAAGCGGGGGACAGCTCCAGGTGAAGCGGGGGACAGCTCC AGGTGAAGGAAGGACAACTCCAGGTGAAGCGGGGGACAACTCCAGGTGAA GGGGGGGCAACTCCAGGTGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0284 a0001c0006t0004g0284	1	322	0.0031	170	c.201 others(189): Show c.201-10788_201-10787insTTCACCTGGAGTTGCCCCCCCTTCAC CTGGAGTTGTCCCCCGCTTCACCTGGAGTTGTCCTTCCTTCACCTGGAGC TGTCCCCCGCTTCACCTGGAGCTGTCCCCCGCTTCACCTGGAGCTGTCCC CCCCTTCACCTGGAGTTGCCCCCCTTCACCTGGAGTTGCCCTCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720229	G G	GAGAGGGA others(163): Show GAGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGA GAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGA GAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0023 a0001c0006 a0001c0023	a0001c0006t0004 a0001c0023t0004 a0001c0006t0004 a0001c0023t0004	a0001c0006t0004g0232 a0001c0023t0004g0231 a0001c0006t0004g0232 a0001c0023t0004g0231	2	322	0.0062	170	c.200 others(189): Show c.200+24026_200+24027insGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(163): Show TATGCGTATATATACGTATATACACATATGTGTGTGTATATACGGATATA CACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTATA TACGTATATACACACATATGTGTGTATATACGGATATACACATATATGTG TGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	320	0.0031	170	c.468 others(187): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACATATGTGTGTATATACGTATATACAC ACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATATCC GTATATACACACACATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(163): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATACACACATATGTGTGTATATACGTATATATACACACATATGTGTGTA TATACGTATATATACACACATATGTGTGTGTATATACGTATATACACACA TATGTGTATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0289 a0001c0001t0003g0290	2	320	0.0063	170	c.468 others(187): Show c.468-4219_468-4218insATATATACGTATATACACATATGTGTGT ATATACGTATATACACACACATATGTGTGTATATATACGTATATACACAC ATATGTGTGTATATATACGTATATACACACATATGTGTGTATACGTATAT ATACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597120	C C	CATAATAT others(163): Show CATAATATATATTATATAATAATATATAATACATTATATATATTATATAA TATATATAATACATTATATATTATATAATATATATAATACATTATATATT ATATAATATATAATACATTATATATTATATAATATAGATAATACATTATC TATATTATATAATAATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02738.hp1 HG04204.hp1 HG01123.hp1 HG02738.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0010g0186 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0010g0186	3	220	0.0136	170	c.24+ others(187): Show c.24+13898_24+13899insTTATATAATAATATATAATACATTATAT ATATTATATAATATATATAATACATTATATATTATATAATATATATAATA CATTATATATTATATAATATATAATACATTATATATTATATAATATAGAT AATACATTATCTATATTATATAATAATATATAATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078707	C C	CCCCTCCC others(163): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0255 a0001c0004t0026g0255	1	280	0.0036	170	c.151 others(189): Show c.151-12291_151-12290insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23			chr2	TogoVar
RALGAPA2_chr20_20384530_20717644	20458760	A A	ATATATAT others(163): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATATAGACCTATATATATAGACCTATATATATATAGACCTATATATAT AGACCTATATATATATAGACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp2 HG02965.hp1 others(3): Show HG01109.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0001t0026 a0001c0010t0005	a0001c0001t0001g0034 a0001c0001t0003g0048 a0001c0001t0007g0046 others(3): Show a0001c0001t0001g0034 a0001c0001t0003g0048 a0001c0001t0007g0046 a0001c0001t0021g0050 a0001c0001t0026g0049 a0001c0010t0005g0023	6	122	0.0492	170	c.549 others(191): Show c.5495+14068_5495+14069insGGTCTATATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATATATATA TAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATATATATA GGTCTATATATATATAGGTCTATATATATATAGGTCTATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(163): Show CCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19030.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0137 a0001c0003t0005g0117 a0001c0001t0005g0137 a0001c0003t0005g0117	2	292	0.0069	170	c.362 others(187): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(163): Show CCCCCCCCTCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	292	0.0034	170	c.362 others(187): Show c.362-5380_362-5379insTCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RHBDL3_chr17_32260832_32329659	32310718	A A	AAAAAATA others(163): Show AAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTGGTCCCA GCTACTCAGGACGCTGAGGCAGGAGAATGGCTTGAAACTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTTCAGCCTGGGCGACAGAG CGAGACTCCGTCTAAAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0003t0001 a0001c0007t0002 a0001c0008t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0024	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0006 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0003g0081 a0001c0001t0003g0136 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0258 a0001c0001t0003g0276 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0004g0175 a0001c0001t0007g0219 a0001c0001t0008g0251 a0001c0001t0008g0256 a0001c0001t0008g0257 a0001c0001t0013g0196 a0001c0001t0013g0226 a0001c0001t0014g0191 a0001c0001t0016g0192 a0001c0001t0018g0178 a0001c0001t0019g0181 a0001c0001t0021g0151 a0001c0001t0022g0158 a0001c0001t0025g0284 a0001c0001t0029g0294 a0001c0001t0031g0272 a0001c0001t0032g0206 a0001c0003t0001g0064 a0001c0007t0002g0169 a0001c0008t0003g0215 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0083 a0002c0002t0001g0129 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0261 a0002c0002t0001g0275 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0003g0010 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0037 a0002c0002t0003g0042 a0002c0002t0003g0056 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0096 a0002c0002t0003g0123 a0002c0002t0003g0130 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0248 a0002c0002t0003g0255 a0002c0002t0003g0260 a0002c0002t0003g0270 a0002c0002t0003g0277 a0002c0002t0003g0283 a0002c0002t0007g0289 a0002c0002t0007g0290 a0002c0002t0010g0180 a0002c0002t0010g0194 a0002c0002t0011g0153 a0002c0002t0024g0254	128	306	0.4183	170	c.882 others(187): Show c.882+5278_882+5279insAAAATACAAAAAATTAGCCAGGCGTGGT GGCGGGCACCTGTGGTCCCAGCTACTCAGGACGCTGAGGCAGGAGAATGG CTTGAAACTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCA CTTCAGCCTGGGCGACAGAGCGAGACTCCGTCTAAAAATATA	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(163): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAAGTGTATATTCTATTGTACATTCTATTGTAC AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG02818.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	368	0.0054	170	c.-13 others(181): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAAGTGTATATTCTATTG TACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAAT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(163): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	368	0.0054	170	c.-13 others(181): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAAT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(163): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0111 a0001c0001t0092g0111	1	396	0.0025	170	c.-76 others(179): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNFT2_chr12_116733315_116858631	116800812	T T	TCAAAATA others(163): Show TCAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0026 a0001c0009t0023g0026	1	268	0.0037	170	c.882 others(189): Show c.882+21464_882+21465insCAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RPH3AL_chr17_207389_357807	217432	G G	GCTAAAAT others(163): Show GCTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCA TCTGGGGCAGTTATTACAGAGCCCTTCTTCTGTGCTAAAATTGGCCTCAC TGAAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTAT GGAGCCCTTTCTTCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0126 a0001c0002t0009g0126	1	133	0.0075	170	c.728 others(187): Show c.728-1631_728-1630insTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGC CAATTTTAGCACAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217462	C C	CCCAAGGC others(163): Show CCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTC TGTGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	133	0.0075	170	c.728 others(187): Show c.728-1661_728-1660insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCACAGAAGAAG GGCTCTGTAATAACTGCCCCAGATGGGAATGAAATGCCTTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217485	G G	GGGGCAGT others(163): Show GGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCG CTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTA CAGAGCCCTTCTTCTGCATTAAAATTGGCCTCACTGAAATCAGGACCCCC AAGGCATTTCGTTCCCATCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 HG00408.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0080 a0001c0002t0007g0112 a0001c0001t0001g0080 a0001c0002t0007g0112	2	133	0.0150	170	c.728 others(187): Show c.728-1684_728-1683insGAGATGGGAACGAAATGCCTTGGGGGTC CTGATTTCAGTGAGGCCAATTTTAATGCAGAAGAAGGGCTCTGTAATAAC TGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCC AATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	218163	C C	CTGGGGCA others(163): Show CTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCGAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGTTGAAATCAGGACCC CCAAGGCATTTCATTCCTGTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 NA19043.hp2 HG01358.hp2 HG01496.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0013 a0001c0003t0028 a0001c0001t0007 a0001c0001t0013 a0001c0003t0028	a0001c0001t0007g0097 a0001c0001t0013g0108 a0001c0003t0028g0088 a0001c0001t0007g0097 a0001c0001t0013g0108 a0001c0003t0028g0088	3	133	0.0226	170	c.727 others(187): Show c.727+1459_727+1460insAACAGGAATGAAATGCCTTGGGGGTCCT GATTTCAACGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATA ACTGCCCCAGATGGGAACGAAATGCCTTCGGGGTCCTGATTCCAGTGAGG CCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	309523	G G	GGGCTCCT others(163): Show GGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATACGGCATGTCCCCC GTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATACGGCATGT CCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATGG CATGTCCCCTGCCCTGCCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 NA18522.hp1 others(1): Show HG02055.hp1 HG02895.hp1 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0012 a0001c0003 a0003c0012	a0001c0003t0002 a0001c0003t0018 a0001c0003t0028 others(1): Show a0001c0003t0002 a0001c0003t0018 a0001c0003t0028 a0003c0012t0005	a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 others(1): Show a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 a0003c0012t0005g0020	4	133	0.0301	170	c.351 others(187): Show c.351+9896_351+9897insTGGGGCAGGGCAGGGGACATGCCATATC CCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGACGGGGGACATGCC GTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGACGGGGGAC ATGCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(163): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0084 a0003c0003t0084	a0003c0003t0084g0076 a0003c0003t0084g0076	1	366	0.0027	170	c.-15 others(181): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(163): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCAGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCAC CCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC GCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	376	0.0027	170	c.-58 others(177): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCAG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar