Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PEX10_chr1_2398974_2417564	2401412	T T	TTCTCCCT others(164): Show TTCTCCCTCCTTCCCTCCCTCCTCCTCCCTTCCTCCCTCCTCCTCCCTCC TCCCTTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCC TTCTTCCTCCTCCTCCTCCCTCCCCCTCCTCCCTCCTTCCTCCCTCCTCC TCCCTCCCTCCTCCTTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	358	0.0028	171	c.43 others(182): Show c.4353_*4354insGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGG AAGGAGGGAGGAGGGGGAGGGAGGAGGAGGAGGAAGAAGGGAGGAGGAGG GAGGAAGAAGGGAGGAGGGAGGAGGAGGGAGGAAGGGAGGAGGGAGGAGG AGGGAGGAAGGGAGGAGGAGGGAGGGAAGGAGGGAGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2561		chr1	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCCC others(164): Show CCCCCCCCTCTCCCCCTCCCCATCCCCTCCCACTCCGCTCGCCCTCCCCC TCCCCCTCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCC ATCCCCCCCCCCCTCTCCTCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCTCACCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0022 a0004c0003t0022	a0004c0003t0022g0088 a0004c0003t0022g0088	1	320	0.0031	171	c.218 others(190): Show c.2189+2324_2189+2325insCCCTCTCCCCCTCCCCATCCCCTCCC ACTCCGCTCGCCCTCCCCCTCCCCCTCCCGTCCCTCTCCCATCCCCCTCC CCTCTCCCATCCCCCTCCCATCCCCCCCCCCCTCTCCTCTCCCTCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCACCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIEZO1_chr16_88710338_88790220	88729370	G G	GCCCCATC others(164): Show GCCCCATCTGCCACAGAGGGAACCTTGCGACCCAAAAACAAAGTGACCCT CGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACA GAGGGAACCTCGTGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACC CAGGACATTCTGAACCCACAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0017 a0017	a0017c0089 a0017c0089	a0017c0089t0001 a0017c0089t0001	a0017c0089t0001g0132 a0017c0089t0001g0132	1	282	0.0036	171	c.319 others(190): Show c.3197-1710_3197-1709insGCTGTGGGTTCAGAATGTCCTGGGTT CCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTG GCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGG TCACTTTGTTTTTGGGTCGCAAGGTTCCCTCTGTGGCAGATGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIK3C2A_chr11_17081575_17212986	17193861	A A	AGAAAAGA others(164): Show AGAAAAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	342	0.0029	171	c.-66 others(190): Show c.-66+13986_-66+13987insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTTTTC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193863	A A	AGGAGGGG others(164): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0190 a0002c0004t0003g0190	1	342	0.0029	171	c.-66 others(190): Show c.-66+13984_-66+13985insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(164): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp1 HG02257.hp2 others(4): Show HG00621.hp1 HG01891.hp1 HG02257.hp2 HG03492.hp2 NA18988.hp2 NA19012.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 a0001c0003t0003	a0001c0001t0002g0135 a0001c0001t0002g0164 a0001c0001t0009g0134 others(4): Show a0001c0001t0002g0135 a0001c0001t0002g0164 a0001c0001t0009g0134 a0001c0001t0018g0167 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0093	7	342	0.0205	171	c.-66 others(190): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(164): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCACTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	216	0.0046	171	c.173 others(188): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCACTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCG2_chr16_81774291_81967685	81866480	T T	TCTCCACT others(164): Show TCTCCACTGGGGCACCAGCATGAGAGGATGCTAGCCTCTCCCTTTCTCCC AGGATGGGCTCCACTGGGGCACCAGCATGAGAGGATGCTAGCCTCTCCCT TTCTCCCAGGATGGGCTCCACTGGGGCACCAGCATGAGAGGACGCTGGCC TCTCCCTTGCTCCCAGGTTGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG02572.hp2 HG02717.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0016 others(1): Show a0001c0002 a0001c0007 a0001c0016 a0001c0039	a0001c0002t0013 a0001c0007t0013 a0001c0016t0005 others(1): Show a0001c0002t0013 a0001c0007t0013 a0001c0016t0005 a0001c0039t0016	a0001c0002t0013g0177 a0001c0007t0013g0149 a0001c0016t0005g0210 others(1): Show a0001c0002t0013g0177 a0001c0007t0013g0149 a0001c0016t0005g0210 a0001c0039t0016g0007	4	330	0.0121	171	c.480 others(188): Show c.480-2707_480-2706insTGCTAGCCTCTCCCTTTCTCCCAGGATG GGCTCCACTGGGGCACCAGCATGAGAGGATGCTAGCCTCTCCCTTTCTCC CAGGATGGGCTCCACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCC TTGCTCCCAGGTTGAGCTCCACTGGGGCACCAGCATGAGAGGA	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLD4_chr14_104919879_104938236	104933637	C C	CGGGGAGG others(164): Show CGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGG GGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCCGGGGCTGAGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	426	0.0024	171	c.67 others(180): Show c.673_*674insGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGG GGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGG AGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGA CGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAG	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		402		chr14	TogoVar
PLVAP_chr19_17346455_17382342	17349162	C C	CTTTCTTT others(164): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	436	0.0023	171	c.31 others(182): Show c.3199_*3200insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGAAAGGAAAGAAAGAAAGAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2292		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998756	T T	TATATATT others(164): Show TATATATTATATTAATATATTATTATATATAATATATAATATATATTATA TATAAATATATTATTTATATATAATATAATATATATTATATATAAAAAAT ATATTTATATATAATATAATATATATTATATATAAAAATATATATATATT ATTATATATAAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	171	c.-50 others(182): Show c.-5054_-5053insTATATATATTTTTATATATAATAATATATATATA TTTTTATATATAATATATATTATATTATATATAAATATATTTTTTATATA TAATATATATTATATTATATATAAATAATATATTTATATATAATATATAT TATATATTATATATAATAATATATTAATATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4641		chrX	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(164): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATATGTATATATATACAT ATATATACATATATATACACATATATACATATATATACACACACATATAT ATACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	170	0.0059	171	c.106 others(190): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATAT GTATATATATACATATATATACATATATATACACATATATACATATATAT ACACACACATATATATACACACACACACATAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(164): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATGTATATATATGTATAT ATATATACATATATATACATATATATACATATATATACACACACATATAT ATACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp1 others(32): Show HG00438.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02148.hp1 HG02280.hp2 HG02300.hp2 HG02615.hp2 HG02630.hp2 HG02735.hp2 HG03041.hp1 HG04228.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18966.hp2 NA18983.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0004 a0002c0006 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0005t0011 a0001c0007t0028 a0002c0003t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0024 a0002c0006t0001 a0003c0012t0020	a0001c0001t0001g0165 a0001c0001t0002g0015 a0001c0001t0002g0018 others(32): Show a0001c0001t0001g0165 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0136 a0001c0001t0003g0107 a0001c0001t0005g0122 a0001c0001t0032g0164 a0001c0002t0001g0012 a0001c0002t0001g0102 a0001c0002t0001g0170 a0001c0002t0002g0105 a0001c0005t0011g0060 a0001c0007t0028g0114 a0002c0003t0001g0067 a0002c0004t0002g0011 a0002c0004t0002g0022 a0002c0004t0002g0101 a0002c0004t0002g0108 a0002c0004t0003g0009 a0002c0004t0024g0103 a0002c0006t0001g0010 a0002c0006t0001g0014 a0002c0006t0001g0019 a0002c0006t0001g0086 a0002c0006t0001g0100 a0003c0012t0020g0021	35	170	0.2059	171	c.106 others(190): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATGT ATATATATGTATATATATATACATATATATACATATATATACATATATAT ACACACACATATATATACACACACACACATAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122078	A A	AGTTAGGG others(164): Show AGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGG TAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGTTCATGGTG GTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCACGGTGGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	286	0.0035	171	c.335 others(190): Show c.335-13134_335-13133insAGTTAGGGTCGTGGTGGTTAGGGTCA TGGTGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRD_chr9_8309246_10618002	8948479	A A	ATATATTA others(164): Show ATATATTATATATATATATATTTATATATATATTTATATATATATTTATA TATATTATTATATATATATTTTATATAATATATTTATATATATATATTTA TATATATATTTATATATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	171	c.-10 others(192): Show c.-104+70217_-104+70218insAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATATATATAAATATATATATA AATATATATATATAAATATATTATATAAAATATATATATAATAATATATA TAAATATATATATAAATATATATATAAATATATATATATATAATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRT_chr20_42067756_43194906	42958331	G G	GAGAGGGA others(164): Show GAGAGGGAGGAGAGAGAGGAGAGGGAAGGGTGGGGAAGGGAAGAAGGGAG GAAGGGAGGAGCGGTGGGGAGGAAGGGAGGACGGGAGGGCAAAGGAGGAG GGGAGGGGAAGGGAGGAGGGGAGGGGAAGGGAAGGGAGGGGAAGGGAAGG GAGGGGAAGGGAACGGACTGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp2 HG01261.hp2 HG02922.hp2	a0005 a0007 a0005 a0007	a0005c0028 a0007c0010 a0005c0028 a0007c0010	a0005c0028t0027 a0007c0010t0009 a0005c0028t0027 a0007c0010t0009	a0005c0028t0027g0042 a0007c0010t0009g0021 a0005c0028t0027g0042 a0007c0010t0009g0021	2	62	0.0323	171	c.89- others(188): Show c.89-72400_89-72399insTCCAGTCCGTTCCCTTCCCCTCCCTTCC CTTCCCCTCCCTTCCCTTCCCCTCCCCTCCTCCCTTCCCCTCCCCTCCTC CTTTGCCCTCCCGTCCTCCCTTCCTCCCCACCGCTCCTCCCTTCCTCCCT TCTTCCCTTCCCCACCCTTCCCTCTCCTCTCTCTCCTCCCTCT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PXDN_chr2_1626887_1749515	1711447	C C	CAGCACCC others(164): Show CAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAG CATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCAC CCACTCTCCACTAGCACCCACTCCACCAGCACCCGCTCCACCAGCATCCA CTCTACCAGCACCCGCTCCACA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	322	0.0031	171	c.201 others(190): Show c.201-18314_201-18313insTGTGGAGCGGGTGCTGGTAGAGTGGA TGCTGGTGGAGCGGGTGCTGGTGGAGTGGGTGCTAGTGGAGAGTGGGTGC TGGTGGAGAGTGGGTGCTTGTGGAGCGGGTGCTGGTAGAGTGGATGCTGG TGGAGCGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692929	C C	CAGTTAGT others(164): Show CAGTTAGTTAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTA GTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGT TAGTGAGCGCCCTTAGCCAGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01070.hp1 others(7): Show HG00544.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 others(5): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0003g0158 a0001c0003t0003g0169 a0001c0003t0008g0155	10	350	0.0286	171	c.236 others(188): Show c.236+2560_236+2561insTAGTGAGCACCCTTGCCAGTTAGTTAGT GAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGC TCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGC CCTTGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132693249	C C	CAGTTAGT others(164): Show CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTC AGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTAGCCAGTTA GTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAG TTAGTGAGCTCCCTTGCCAGTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03492.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG03492.hp2 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0150 others(2): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0008g0155	5	350	0.0143	171	c.237 others(188): Show c.237-2628_237-2627insTAGTGAGCTCCCTTGCCAGTTAGTTAGT GAGCTCCCTTAGTCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCG CCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTC CCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(164): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	344	0.0029	171	c.38- others(186): Show c.38-2397_38-2396insTTAGATATATATAATATATATATCTATTAG ATATATATAATAATATATATATCTATTAGATATATATAATAATATATATA TCTATTAGATATATATAATAATATATATATCTATTAGATATATATAATAA TATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB7B_chr1_205971740_206008395	205985746	C C	CCCCACCA others(164): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG CCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCATCAGGCCCAC CAGGCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19074.hp1 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0186 a0001c0001t0002g0018 a0001c0001t0002g0186	2	330	0.0061	171	c.397 others(184): Show c.397-82_397-81insCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGA TGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(164): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCACCAGGCCC ACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAG GCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp1 HG01358.hp1 others(1): Show HG01168.hp2 HG01256.hp1 HG01358.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0116 a0001c0001t0005g0001 a0001c0001t0005g0116	4	330	0.0121	171	c.397 others(184): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGAT GGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAE1_chr20_57346255_57384202	57350850	G G	GGGGGGCG others(164): Show GGGGGGCGGTGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGG GGGGACGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGG GCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGG GGGGCGGGGGGGGCGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0048 a0001c0001t0011g0048	1	342	0.0029	171	c.-58 others(180): Show c.-580_-579insGGGGGCGGTGGGGCGGGGGGCGGGGGGGGCGGGGGG CGGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGG CGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGC GGGGGGCGGGGGGGGGGCGGGGGGGGCGGGGGGAC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		404		chr20	TogoVar
RASA3_chr13_113972783_114137623	114008576	T T	TGTGGGGA others(164): Show TGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTCCCCACGCACCGCGT TCCTGACCGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTCCCCACGC ACCGCGTTCCTGACCGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTC CCCACGCACCGCGTTCCTGACC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	67	0.0149	171	c.166 others(188): Show c.1668+810_1668+811insGGTCAGGAACGCGGTGCGTGGGGAACGT CCAGACCGCAGGGCTCTGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGG GGAACGTCCAGACCGCAGGGCTCTGCTCCTCCCCACGGTCAGGAACGCGG TGCGTGGGGAACGTCCAGACCGCAGGGCTCTGCTCCTCCCCAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(164): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCACCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03041.hp2 others(3): Show HG02647.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0021 others(3): Show a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0092 a0001c0001t0003g0160	6	292	0.0206	171	c.362 others(188): Show c.362-5380_362-5379insACCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(164): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG03195.hp1 HG02055.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0105 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0105	3	292	0.0103	171	c.362 others(188): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(164): Show AGGGCGGCTGGCCGACCCCCCCCTCCCCCGCCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0123	1	292	0.0034	171	c.362 others(188): Show c.362-5380_362-5379insTCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	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(164): Show CCCCCCCCCCCCCCAGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	292	0.0034	171	c.362 others(188): Show c.362-5379_362-5378insCCCCCAGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	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(164): Show CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(9): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG02015.hp2 HG02056.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG03579.hp2 NA18949.hp1 NA18990.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0222 a0001c0001t0002g0231 a0001c0001t0002g0252 others(9): Show a0001c0001t0002g0222 a0001c0001t0002g0231 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0005g0053 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0126 a0001c0001t0005g0132 a0001c0001t0005g0140	12	292	0.0411	171	c.362 others(188): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RHBDL3_chr17_32260832_32329659	32276674	G G	GCTAGCAC others(164): Show GCTAGCACCGTACTCCAGCCCTAGCACAGTACTCCGGCCCTAGCACCTTA CTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCAGCCCTAG CACAGTACTCCAGCCCTAGCACAGTACTCCGGCCCTAGCACCTTACTCCG GCCCTAGCACCTTACTCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(27): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02602.hp1 HG02886.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03834.hp2 NA18522.hp1 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0007t0002 a0002c0002t0002 a0002c0002t0011	a0001c0001t0002g0005 a0001c0001t0002g0150 a0001c0001t0002g0156 others(26): Show a0001c0001t0002g0005 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0011g0157 a0001c0001t0021g0151 a0001c0001t0022g0158 a0001c0007t0002g0169 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0011g0153	30	306	0.0980	171	c.136 others(188): Show c.136-7913_136-7912insGGCCCTAGCACCTTACTCCAGCCCTAGC ACAGTACTCCAGCCCTAGCACAGTACTCCGGCCCTAGCACCTTACTCCGG CCCTAGCACCTTACTCCGGCCCTAGCACCGTACTCCAGCCCTAGCACAGT ACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCC	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(164): Show CTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG02723.hp2 others(6): Show HG00323.hp1 HG01069.hp2 HG02723.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18986.hp2 NA18987.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0003c0008t0003 a0003c0008t0007 a0003c0008t0012	a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0004g0165 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0004g0165 a0001c0001t0004g0170 a0001c0001t0011g0148 a0001c0001t0011g0155 a0003c0008t0003g0222 a0003c0008t0007g0244 a0003c0008t0012g0250	9	344	0.0262	171	c.233 others(190): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(164): Show CTTTTTTTTTTTTTTTTTTTTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0263 a0004c0014t0001g0263	1	344	0.0029	171	c.233 others(190): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAAAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTTCTT others(164): Show ACTTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0013 a0001c0018t0013	a0001c0018t0013g0072 a0001c0018t0013g0072	1	448	0.0022	171	c.48 others(182): Show c.4815_*4816insAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	A A	ACCACCCC others(164): Show ACCACCCCTGCCTCCCCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTC ACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTCCCCTGCCTCCCCTG CCACCCCTGCCTCACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTCA CCTGCCACCCCTGCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	280	0.0036	171	c.427 others(186): Show c.427-259_427-258insCAGGGGAGGCAGGGGTGGCAGGTGAGGCAG GGGTGGCAGGTGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGGGAG GCAGGGGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGTGAGGCAGG GGTGGCAGGTGAGGCAGGGGTGGCAGGGGAGGCAGGGGTGG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505257	G G	GCCCTCTC others(164): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0089 a0004c0006t0039 a0001c0001t0089 a0004c0006t0039	a0001c0001t0089g0087 a0004c0006t0039g0112 a0001c0001t0089g0087 a0004c0006t0039g0112	2	396	0.0051	171	c.-76 others(180): Show c.-768_-767insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		279		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(164): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAATCTATATAGATATATAGATACATCTATATAGA TATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0018 a0003c0007t0001g0018	1	426	0.0024	171	c.20 others(182): Show c.2090_*2091insTATATAGATGCATCTATATAGATATATAGATGCA TCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATA TAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(164): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATATCTATATAGATGC ATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTAT ATAGATATATAATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0016 a0003c0007t0001g0016	1	426	0.0024	171	c.20 others(182): Show c.2090_*2091insTATATAGATGCATCTATATAGATATATAGATGCA TCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATA TATCTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATA TATAGATGCATCTATATAGATATATAATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
ROBO2_chr3_77035099_77654964	77317823	G G	GGCTGCTG others(164): Show GGCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGGGCTGCTAGGGGGGCTG CTGGGGGGGCTGCTGGGGGGGCTGCTGGGGGGGCTGCTGGGGGGCTGCTG GGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCTGGGGGGGCTGCTGGGGGG CTGCTGGGGGGCTGCTAGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02809.hp2 others(10): Show HG02055.hp1 HG02451.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0011 a0008c0009 a0009c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0025 a0001c0002t0002 a0001c0003t0007 a0001c0005t0012 a0002c0011t0002 a0008c0009t0002 a0009c0007t0002	a0001c0001t0003g0014 a0001c0001t0005g0044 a0001c0001t0005g0159 others(10): Show a0001c0001t0003g0014 a0001c0001t0005g0044 a0001c0001t0005g0159 a0001c0001t0013g0098 a0001c0001t0025g0078 a0001c0002t0002g0079 a0001c0003t0007g0113 a0001c0003t0007g0115 a0001c0003t0007g0117 a0001c0005t0012g0114 a0002c0011t0002g0080 a0008c0009t0002g0083 a0009c0007t0002g0088	13	160	0.0813	171	c.389 others(192): Show c.389-159574_389-159573insGGGGGGCTGCTAGGGGGCTGCTAG GGGGGCTGCTGGGGGGGCTGCTGGGGGGGCTGCTGGGGGGGCTGCTGGGG GGCTGCTGGGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCTGGGGGGGCTG CTGGGGGGCTGCTGGGGGGCTGCTAGGGGCGCTGCTGGGGGGCTGCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410555	T T	TTCCTCCT others(164): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTCTCCTCCTCTTCCTCC TGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTC TTCCTCCTCCTCTTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	160	0.0063	171	c.389 others(190): Show c.389-66851_389-66850insCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTC TCCTCCTCTTCCTCCTGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410567	T T	TTCCTCCT others(164): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTCTCCTCCTCTTCC TCCTGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0090 a0001c0001t0009g0090	1	160	0.0063	171	c.389 others(190): Show c.389-66836_389-66835insCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTC TCCTCCTCTTCCTCCTGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11330949	G G	GGAGGAGG others(164): Show GGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGGGGGA GGAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGAGGAGGACG AGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGAGGGAGGAG GAAGGAGGAGTGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02074.hp1 HG03927.hp1 others(1): Show HG01261.hp2 HG02074.hp1 HG03927.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0240 a0002c0002t0002g0022 a0002c0002t0002g0023 others(1): Show a0001c0001t0004g0240 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0087	4	320	0.0125	171	c.141 others(190): Show c.141+13046_141+13047insTCCCTCCTCCCACTCCTCCTTCCTCC TCCCTCCTCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTC CTCCTCCCCCCTCCTACTCCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTACTGCGTCCTCCCCCCTCCTACTCCATCCTCCCTCCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	242351	C C	CTACCTTC others(164): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGATTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 NA18951.hp1 others(4): Show HG01358.hp2 HG01496.hp2 NA18951.hp1 NA18993.hp1 NA18999.hp1 NA19056.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0033	a0001c0001t0001g0047 a0001c0001t0007g0097 a0001c0001t0013g0108 others(4): Show a0001c0001t0001g0047 a0001c0001t0007g0097 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0033g0063	7	133	0.0526	171	c.613 others(188): Show c.613+4759_613+4760insATCAATAGAGGAAGGTAATCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242555	T T	TTACCCTT others(164): Show TTACCCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATT GATTACCTTCCTCTACTGACTACCTTCCTCTACTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	171	c.613 others(188): Show c.613+4555_613+4556insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAGTAGAGGAAGGTAGTCAGTAGAGGAAGGTAATCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665359	T T	TTTTCCTT others(164): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTC CTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTC TTTCCTTTCCTTTCCTTTATCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	196	0.0051	171	c.348 others(190): Show c.348+21551_348+21552insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTT CCTTTCCTTTTCCTTTCCTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTCTTTCCTTTCCTTTCCTTTATCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665502	C C	CCTTTCCT others(164): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0135 a0001c0019t0003g0135	1	196	0.0051	171	c.348 others(190): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750359	C C	CTATAATA others(164): Show CTATAATATATAATATATCTATAATATATATATCTATAATATATAATATA TCTATAATATATATATTATATCTATAATATATATAATATATCTATAATAT ATATAATATATCTATAATATATATATCTATAATATATATAATATATCTAT AATATATAATATATCTATAATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG01993.hp1 HG01099.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022	3	172	0.0174	171	c.242 others(188): Show c.242-3879_242-3878insTATTATAGATATATTATATATTATAGAT ATATTATATATATTATAGATATATATATTATAGATATATTATATATATTA TAGATATATTATATATATTATAGATATAATATATATATTATAGATATATT ATATATTATAGATATATATATTATAGATATATTATATATTATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(164): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT ATTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATG TGTCATATATATCTGTCATATATGTGTCATATATATGTGTCATATATGTG TCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0050	1	202	0.0050	171	c.-25 others(182): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATATTGTCATATATATGTGTCATATATGTGTCATATA TATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATA TGTGTCATATATGTGTCATATATATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(164): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03491.hp2 HG01099.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0044 a0001c0001t0001g0068	2	202	0.0099	171	c.-20 others(182): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849366	A A	ATATATAG others(164): Show ATATATAGTATATATACTATAGTATATATACTATATATAATATAGTATAT ATACTATATATAATATATAGTATATATAATATATTATATATAGTATATAT TATATATAGTATAATATATAATATATATTATATATAGTATATATAATATA TTATATATAGTATAATATATAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	170	0.0059	171	c.613 others(190): Show c.613+10107_613+10108insCTATATATTATACTATATATAATATA TTATATATACTATATATAATATATATTATATATTATACTATATATAATAT ATACTATATATAATATATTATATATACTATATATTATATATAGTATATAT ACTATATTATATATAGTATATATACTATAGTATATATACTATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RXRA_chr9_134321455_134445585	134444407	C C	CTTCCCCC others(164): Show CTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTC CTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCC TCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCTCCCTCCTCCTTCCT CCCTCCTTCCCTCCTTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01257.hp1 HG01074.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0056 a0001c0001t0055 a0001c0001t0056	a0001c0001t0055g0018 a0001c0001t0056g0167 a0001c0001t0055g0018 a0001c0001t0056g0167	2	232	0.0086	171	c.77 others(182): Show c.7793_*7794insTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCC TCCCTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3823		chr9	TogoVar

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