Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOL4_chr18_33846100_34229913	33953227	T T	TTTGTGTA others(274): Show TTTGTGTAGGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	168	0.0060	281	c.142 others(300): Show c.1428+4098_1428+4099insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCCTA CACAA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	8/10			chr18	TogoVar
NOX4_chr11_89319353_89496375	89463708	C C	CCAGTTAG others(274): Show CCAGTTAGGTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GATTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0287 a0001c0001t0117g0287	1	288	0.0035	281	c.154 others(300): Show c.154-11814_154-11813insATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAATCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAACCT AACTG	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GGGGGGGG others(274): Show GGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGATGGGCGTGAT GATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGATGATGGGGGTG GTGGTGGGGGTGATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCT GATGGGGGTGTGGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGA TGATGGGCATGATGATGGGCGTGATGATAGGGGTGGTGGTGGGGGTGATG GTGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0067 a0001c0002t0093g0067	1	355	0.0028	281	c.10 others(290): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCCACCACCACCCCTATCATCACGCCCATCATCATGCCCATCATCAC CCCCCATCATCATCACGCCCATCATCATCATGCCCACACCCCCATCAGGC CCACCCCCCCCACCCCCATCATCACGCCCACCATCACCCCCACCACCACC CCCATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCATCA CGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NSUN4_chr1_46335807_46370018	46337331	T T	TAAAAATA others(274): Show TAAAAATACAAAAGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0225 a0005c0005t0010g0225	1	388	0.0026	281	c.-34 others(292): Show c.-3496_-3495insAAAAATACAAAAGAAGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3475		chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(274): Show TCCTCTCCTCTCCTCTCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0225 a0001c0001t0020g0225	1	326	0.0031	281	c.433 others(298): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG AGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACGAGAGGAGAGGAG AGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949274	C C	CCCCCTGC others(274): Show CCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	242	0.0041	281	c.360 others(300): Show c.360+30044_360+30045insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AGAAAGAA others(274): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	296	0.0034	281	c.-18 others(290): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
ODF3_chr11_191761_205258	196564	C C	CTGGTGAG others(274): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAG GGGAGCATGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	388	0.0052	281	c.-49 others(290): Show c.-491_-490insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAG GGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		196		chr11	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(274): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0176 a0001c0001t0014g0176	1	178	0.0056	281	c.773 others(296): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTC C	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344683	A A	AGGGGATT others(274): Show AGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGAGTTCTGTG AGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTG TGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	367	0.0027	281	c.4-1 others(294): Show c.4-1393_4-1392insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACTCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344683	A A	AGGGGATT others(274): Show AGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTG TGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	367	0.0027	281	c.4-1 others(294): Show c.4-1393_4-1392insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAXBP1_chr21_32728899_32776755	32738401	T T	TGAAATAC others(274): Show TGAAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	360	0.0028	281	c.233 others(296): Show c.2335-83_2335-82insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCTGCTGTATTT C	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding	15/17			chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(274): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCTTGCC CTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCTCCCCCTCCCCCTCCCCT CCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCT CCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTG CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0002 a0007c0025t0002	a0007c0025t0002g0313 a0007c0025t0002g0313	1	336	0.0030	281	c.-37 others(292): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(274): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02976.hp2 others(1): Show HG02717.hp2 HG02970.hp2 HG02976.hp2 HG03516.hp1	a0006 a0006	a0006c0020 a0006c0021 a0006c0033 others(1): Show a0006c0020 a0006c0021 a0006c0033 a0006c0034	a0006c0020t0001 a0006c0021t0001 a0006c0033t0001 others(1): Show a0006c0020t0001 a0006c0021t0001 a0006c0033t0001 a0006c0034t0001	a0006c0020t0001g0006 a0006c0021t0001g0005 a0006c0033t0001g0007 others(1): Show a0006c0020t0001g0006 a0006c0021t0001g0005 a0006c0033t0001g0007 a0006c0034t0001g0004	4	336	0.0119	281	c.-37 others(292): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGAGGGGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATG AGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGGAGGGG AGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	318110	C C	CCTCCACT others(274): Show CCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCACCTCACCTCC CCTCACCACTCGCCTCCTCACTCCCGCCCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCTCATCCTGCACCCTCCCCCTCCAC CCGCCCTCACCTCCTCCCACCTTCCACTCCCCCTCACCTCCCCTCACTTC CCCAGCCTCACCCTCCCCTCCACCCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	360	0.0028	281	c.35 others(292): Show c.3595_*3596insCTCCACTCCCCCTCACCTCCCCCCCACTTTCCAC CTCCACCTCACCTCCCCTCACCACTCGCCTCCTCACTCCCGCCCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCTCATCCTGC ACCCTCCCCCTCCACCCGCCCTCACCTCCTCCCACCTTCCACTCCCCCTC ACCTCCCCTCACTTCCCCAGCCTCACCCTCCCCTCCACCCTCCTCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3137		chr5	TogoVar
PDE2A_chr11_72571141_72679422	72670181	A A	AGTGGCTC others(274): Show AGTGGCTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0265 a0001c0001t0011g0265	1	292	0.0034	281	c.71+ others(296): Show c.71+3955_71+3956insGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGAGCCA C	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	1/30			chr11	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(274): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0332 a0002c0004t0017g0332	1	358	0.0028	281	c.143 others(296): Show c.143-462_143-461insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG G	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIAS4_chr19_4002736_4044386	4011704	G G	GTGTTTGG others(274): Show GTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0264 a0001c0005t0001g0264	1	334	0.0030	281	c.28- others(296): Show c.28-1216_28-1215insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTG T	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(274): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAG GAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0065 a0001c0001t0007g0065	1	312	0.0032	281	c.53 others(292): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(274): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG02965.hp2 HG02559.hp2 HG02818.hp2 HG02965.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0010 a0005c0010t0001 a0005c0010t0010	a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0010g0330 a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0010g0330	3	352	0.0085	281	c.472 others(300): Show c.472-16043_472-16042insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCACACCACAGTT TCTTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(274): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAG GAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0031 a0001c0006t0031	a0001c0006t0031g0023 a0001c0006t0031g0023	1	218	0.0046	281	c.262 others(296): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCT TCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCT C	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401214	C C	CCCCGCTC others(274): Show CCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCC CGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCGCTCACACCCGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0214 a0002c0020t0001g0214	1	216	0.0046	281	c.173 others(298): Show c.1737+523_1737+524insCCCCGCTCACACCCGCCCCGCTCACCCC CCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCC CCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCZ1_chr12_18678180_18743012	18730936	T T	TAAAAACT others(274): Show TAAAAACTTGTGTTCTCGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	326	0.0031	281	c.135 others(298): Show c.135+5284_135+5285insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGAGAACACAAGTT TTT	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	3/14			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945046	A A	ATAACTAT others(274): Show ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG02165.hp1 others(8): Show HG00323.hp2 HG00639.hp2 HG02165.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 NA18983.hp1 NA18995.hp2 NA19066.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0002g0051 a0001c0001t0002g0093 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0003g0178 a0001c0001t0003g0191 a0001c0001t0017g0108 a0001c0001t0017g0139	11	206	0.0534	281	c.400 others(300): Show c.400-16689_400-16688insAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R5C_chr14_101756709_101932977	101782310	C C	CCCCTTCC others(274): Show CCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCC TCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCC CCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCCTC CCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCC CCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCC TCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	138	0.0073	281	c.94- others(296): Show c.94-3691_94-3690insTCCCCCTTCCCCTCCCTCTCTCCCCCTTCC CCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTC CCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCC TCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTC CCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTC CCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCTTCCCCTCCCTCT C	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(274): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGGATGTGCGCAGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	210	0.0048	281	c.38- others(298): Show c.38-23224_38-23223insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855190	C C	CCCTCCAC others(274): Show CCCTCCACACACACCATCCTCCACACACCACCCTCCACACACACCACCCT CCACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCCACAC ACACCATCCACACACCACCCTCCACACACACCATGCTCCACACACACCGC CCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCACCCTC CACACACCACCCTCTACCACCCTCCACACACCACCATCCACACACACCAC GCTCCACACACACCGCCCTCCACACACACCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01243.hp1 others(20): Show HG00323.hp1 HG01074.hp2 HG01243.hp1 HG01943.hp2 HG01978.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03490.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18947.hp1 NA18960.hp1 NA18990.hp1 NA19002.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0032 a0002c0004t0001 a0003c0005t0001 a0003c0005t0003	a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0063 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0101 a0001c0001t0003g0145 a0001c0001t0004g0215 a0001c0001t0004g0238 a0001c0001t0006g0140 a0001c0001t0008g0135 a0001c0001t0008g0136 a0001c0001t0032g0249 a0002c0004t0001g0035 a0003c0005t0001g0014 a0003c0005t0001g0051 a0003c0005t0003g0050	23	252	0.0913	281	c.114 others(300): Show c.114+21316_114+21317insATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGT GTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGTGTGT GGAGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(274): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCTCCTC TCCACTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCCCCCTCCCC TCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCCTCCT CCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	94	0.0106	281	c.191 others(302): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCT CCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCC CCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCCCCCT CCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCC TCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTC TCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(274): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC TCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCCCCCTCCCC TCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCCTCCT CCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0011 a0001c0015t0001g0011	1	94	0.0106	281	c.191 others(302): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCC CCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCCCCCT CCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCC TCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTC TCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RIN2_chr20_19753258_20007456	19924409	T T	TTCATACA others(274): Show TTCATACACCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCC TCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCACCTTCATA CCCTCACCTTCATACCCTCACCTCCATACCCTCACCTTCATACCCTCACC TTCATACCCCACCTTCATACCCTCACCTCATACCCCCACCTTCATACCCC ACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATA CCCCACCTCCATACCCCACCTCCATACCCCAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	276	0.0036	281	c.58- others(298): Show c.58-10690_58-10689insTCATACACCCACCTTCATACCCCACCTT CATACCCTCACCTTCATACCCTCACCTCCATACCTCACCTTCCTACCCCC ACCTTCATACCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATAC CCTCACCTTCATACCCTCACCTTCATACCCCACCTTCATACCCTCACCTC ATACCCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCA CCTCCATACCCCACCTTCATACCCCACCTCCATACCCCACCTCCATACCC CAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(274): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATATATTTAAAGATATATATTAAATTATA TATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATA TACATATTTAAAGATATATATATTTAAATATATATATTTTTAATATATAT ATTTTTAAATATATATATATTTATATATATATTTTTATATATATATATTT ATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18988.hp1 NA18942.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0145 a0001c0001t0001g0149	2	408	0.0049	281	c.182 others(298): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATATATTTAAAGATATATATTAA ATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATT TAAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTAAT ATATATATTTTTAAATATATATATATTTATATATATATTTTTATATATAT ATATTTATATATATATTTTTAAATATATATATATATTTATATATATATTT AAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(274): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0171 a0001c0004t0004g0171	1	324	0.0031	281	c.240 others(298): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACCA GGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(274): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03098.hp1 others(1): Show HG02647.hp2 HG02922.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0154 others(1): Show a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155	4	324	0.0124	281	c.240 others(298): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACCA GGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(274): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT GGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	324	0.0031	281	c.240 others(298): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATGGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACCA GGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNGTT_chr6_88604897_88968618	88947783	C C	CAGCCGCC others(274): Show CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTGGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	220	0.0046	281	c.65- others(296): Show c.65-6604_65-6603insTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(274): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01884.hp2 others(1): Show HG00733.hp1 HG00735.hp1 HG01884.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0215 a0001c0001t0001g0232	4	308	0.0130	281	c.-75 others(300): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPTOR_chr17_80539838_80971368	80665514	C C	CTTATTTC others(274): Show CTTATTTCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTCTTTCCTCT TCCTCTTTCCTTTCTCTTTTCCTTTCCTTTCCTATTCCTTTCCTTTCTTT CCTTTCCTTTCTTCCTTCCTTTCCTTTCCTTTCCTTTTTCCTTTTCCTTT CCTTTCCTTTCTTTCCTTTCCTTTTCCTTTCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCTTCCTT TCTCCTTTCCTTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0129 a0001c0024t0003g0129	1	196	0.0051	281	c.348 others(300): Show c.348+21706_348+21707insATTTCTTTCCTTTCCTTTTCCTTTCC TTTCCTTTCCTTCTTTCCTCTTCCTCTTTCCTTTCTCTTTTCCTTTCCTT TCCTATTCCTTTCCTTTCTTTCCTTTCCTTTCTTCCTTCCTTTCCTTTCC TTTCCTTTTTCCTTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTTCCTT TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTC CTTTCCTTTCCTTTCTTCCTTTCTCCTTTCCTTTTCCTTTCCTTTCCTTT CCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP3_chr3_46492976_46505950	46494812	G G	GCCCCCGT others(274): Show GCCCCCGTCCGGGAGGTGGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGGGTCAGCCCCCCCGCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCACCCCCCCGCCCGGCCAGCTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	426	0.0024	281	c.-32 others(292): Show c.-3251_-3250insCCCCCGTCCGGGAGGTGGGGGCGCCTCTGCCCGG CTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCGCCCGGCCAGCTCGC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3163		chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626348	T T	TATATATC others(274): Show TATATATCTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATA TATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATA TATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATA TGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATG TGTCATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCTCATATATGTGTCATATATATGTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0040 a0001c0001t0028g0040	1	202	0.0050	281	c.-24 others(292): Show c.-2476_-2475insATATATCTGTCATATATGTGTCATATATATGTGT CATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCA TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATA TATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATA TGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATA TGTGTCATATATATGTGTCTCATATATGTGTCATATATATGTGTCTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2049		chr7	TogoVar
SAMD11_chr1_918923_949574	934125	A A	AGGCGGCT others(274): Show AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0270 a0004c0008t0002g0270	1	434	0.0023	281	c.843 others(298): Show c.843-1640_843-1639insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGTGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCG GCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATTTAT others(274): Show TTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0173 a0001c0001t0027g0173	1	332	0.0030	281	c.632 others(298): Show c.632+8275_632+8276insTGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACAGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATAAATACAGTATTTATTTATAAA TAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(274): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 NA18981.hp1 others(5): Show HG00280.hp1 HG00673.hp1 NA18981.hp1 NA18984.hp1 NA18995.hp1 NA19009.hp2 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0003g0294 others(5): Show a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0312 a0001c0001t0003g0319 a0001c0001t0014g0302	8	332	0.0241	281	c.632 others(298): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAPER_chr15_76342904_76910340	76533664	T T	TAAAATTA others(274): Show TAAAATTATTACACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAAATACAAAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01255.hp1 others(15): Show HG00280.hp2 HG00621.hp1 HG01255.hp1 HG01433.hp1 HG02027.hp2 HG02083.hp2 HG03195.hp2 HG03540.hp2 HG03710.hp1 NA18945.hp1 NA18946.hp1 NA18972.hp1 NA18980.hp1 NA19007.hp2 NA19009.hp2 NA19063.hp1 NA19064.hp1 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0003 a0006c0013t0003 a0001c0001t0003 a0006c0013t0003	a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 others(15): Show a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0177 a0006c0013t0003g0123 a0006c0013t0003g0124	18	312	0.0577	281	c.283 others(302): Show c.2839-28691_2839-28690insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGTGTAA TAATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCGB1C1_chr11_188078_199575	196564	C C	CTGGTGAG others(274): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAG GGGAGCATGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	354	0.0057	281	c.21 others(292): Show c.2114_*2115insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTG AGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1990		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATCC others(274): Show CTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTC TATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTAT CCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAG CATAGCTCCAACCCTCCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	280	0.0036	281	c.89- others(294): Show c.89-443_89-442insATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTG TGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGG GGGGTAGAATGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGG ATAGAGTGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATA GAGTGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(274): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCT CCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCA TTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0241 a0002c0002t0005g0241	1	280	0.0036	281	c.89- others(294): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGG AGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGA GTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CCTATATA others(274): Show CCTATATATATATTCCATATATATATATTCCCTATATATATATTCCATAT ATATATATTCCCTATATATATATTCCCTATATATATATTCCATATATATA TATTCCATATATATATTCCATATATATATATTCCATATATATATATTTCA TATATATATATTCCATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATATATATTCCATATATATATATTCCATATATATA TATATATATATTCCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	324	0.0031	281	c.115 others(298): Show c.115-2706_115-2705insATATATATATATATATATGGAATATATA TATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGAAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATAGGGAATATATATATAGGGAATAT ATATATATGGAATATATATATAGGGAATATATATATATGGAATATATATA TAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TACATATG others(274): Show TACATATGTATGACATACATATGTATCACATACATATGTATGACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATGTA TCACATACATATGTATCACATACATATGTATCACATACATATGTATCACA TACATATGTATCACATACATATGTATCACATACATATGTATCAAATACAT ATGTATCAAATACATATGTATCACATACATATGTATCAAATACATATGTA TCACATATATATGTATCACATATATATCACAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0033 a0002c0010t0001g0033	1	244	0.0041	281	c.104 others(300): Show c.104-35140_104-35139insGTGTGATATATATGTGATACATATAT ATGTGATACATATGTATTTGATACATATGTATGTGATACATATGTATTTG ATACATATGTATTTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTCATACATATGTATGTGATACATATGTATGTCATACA TATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SH3KBP1_chrX_19528977_19892600	19572194	T T	TATATATG others(274): Show TATATATGTTATATATAGTACATATGTTATATATAGTACATATATATGTT ATATATAGTACATATATGTTATATAGAGTATATGTTATATATAGTCATAT ATGTTATATATAGTACATATGTTATATAGTACATATATATGTTATATAGA GTACATATATGTTATATAGAGTATATGTTATATATAGTCATATATGTTAT ATATAGTACATATGTTATATAGTACATATATATGTTATATAGAGTACATA TATGTTATATAGAGTATATGTTATATATAGTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02486.hp1 HG02559.hp1 others(9): Show HG01070.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02897.hp1 HG02922.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0002 a0001c0003t0013 a0001c0009t0002	a0001c0001t0001g0052 a0001c0002t0001g0179 a0001c0002t0002g0178 others(9): Show a0001c0001t0001g0052 a0001c0002t0001g0179 a0001c0002t0002g0178 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0202 a0001c0002t0012g0186 a0001c0003t0002g0039 a0001c0003t0013g0068 a0001c0009t0002g0009	12	204	0.0588	281	c.129 others(300): Show c.1299-3007_1299-3006insGACTATATATAACATATACTCTATAT AACATATATGTACTCTATATAACATATATATGTACTATATAACATATGTA CTATATATAACATATATGACTATATATAACATATACTCTATATAACATAT ATGTACTCTATATAACATATATATGTACTATATAACATATGTACTATATA TAACATATATGACTATATATAACATATACTCTATATAACATATATGTACT ATATATAACATATATATGTACTATATATAACATATGTACTATATATAACA TATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	12/17			chrX	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(274): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0055 a0001c0001t0053g0055	1	214	0.0047	281	c.691 others(300): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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