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
PKP3_chr11_389209_409908	401335	G G	GCCCCGCT others(178): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	216	0.0046	185	c.173 others(202): Show c.1737+630_1737+631insCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACC CGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(178): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	216	0.0046	185	c.173 others(202): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(178): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02074.hp2 HG03704.hp2 others(1): Show HG01952.hp1 HG02074.hp2 HG03704.hp2 HG04199.hp2	a0001 a0013 a0001 a0013	a0001c0003 a0013c0015 a0001c0003 a0013c0015	a0001c0003t0001 a0013c0015t0001 a0001c0003t0001 a0013c0015t0001	a0001c0003t0001g0095 a0001c0003t0001g0114 a0001c0003t0001g0161 others(1): Show a0001c0003t0001g0095 a0001c0003t0001g0114 a0001c0003t0001g0161 a0013c0015t0001g0109	4	216	0.0185	185	c.173 others(202): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977444	C C	CCAACCCC others(178): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	185	c.28 others(196): Show c.2869_*2870insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1580		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(178): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02165.hp1 NA19002.hp2 others(1): Show HG00673.hp2 HG02165.hp1 NA19002.hp2 NA19012.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0022 a0021c0039 a0001c0001 a0001c0022 a0021c0039	a0001c0001t0001 a0001c0022t0008 a0001c0022t0017 others(1): Show a0001c0001t0001 a0001c0022t0008 a0001c0022t0017 a0021c0039t0001	a0001c0001t0001g0017 a0001c0022t0008g0001 a0001c0022t0017g0001 others(1): Show a0001c0001t0001g0017 a0001c0022t0008g0001 a0001c0022t0017g0001 a0021c0039t0001g0001	4	422	0.0095	185	c.29 others(196): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274790	C C	CCCCCAGC others(178): Show CCCCCAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTATCCCTCCCAGCCCCCT CCACCTCCCAGCACCACCCCCAGCCCCCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0158 a0001c0052t0001g0158	1	302	0.0033	185	c.91 others(194): Show c.913_*914insAGGTGGAGGGGGGCTGGGGGTGGTGCTGGGAGGTGG AGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGC TGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		188		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAGC others(178): Show CTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCT CCCCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGC CCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTCCCCCAGC ATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	302	0.0033	185	c.83 others(194): Show c.838_*839insAGGGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGAT GCTGGGGGAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGGG GCTGGGGGTGGTGCTGGGAGGTGGAGGGGGCTGGGAGGGATACTGGGGGG AGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGCTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137514550	A A	ATGTTGAG others(178): Show ATGTTGAGGTGCCCGGGCCCTGTGGCTGGGCTGCGGGCGGGTCACCCGGA TGTTGAGGTGCCTGGGCCCTGTGGCTGGGCTGCAGGCGGGTCACTCGGAT GTTGATGTGCCGGGGCCCTGTGGCTGGGCTGTGGGTGGGTCACCTGGCTG TTGAGATGCCCGGGCCCTGTGGCCGGGTCACCTGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 NA18747.hp1 others(1): Show HG00423.hp1 HG00609.hp1 NA18747.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0061 a0001c0001t0001g0084	4	188	0.0213	185	c.122 others(202): Show c.1225+828_1225+829insGTCAGGTGACCCGGCCACAGGGCCCGGG CATCTCAACAGCCAGGTGACCCACCCACAGCCCAGCCACAGGGCCCCGGC ACATCAACATCCGAGTGACCCGCCTGCAGCCCAGCCACAGGGCCCAGGCA CCTCAACATCCGGGTGACCCGCCCGCAGCCCAGCCACAGGGCCCGGGCAC CTCAACA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PPP2R2D_chr10_131896008_131964834	131939071	T T	TACGGCAG others(178): Show TACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAATACGGCAGGCTGC ATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCT GCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA CGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(37): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01975.hp2 HG01981.hp2 HG02080.hp2 HG02132.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03834.hp1 HG04115.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18960.hp1 NA18967.hp1 NA18970.hp2 NA18987.hp2 NA18999.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0046 a0002c0002t0051 others(5): Show a0002c0002t0001 a0002c0002t0046 a0002c0002t0051 a0002c0002t0054 a0002c0002t0055 a0002c0002t0057 a0002c0002t0058 a0002c0002t0063	a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(34): Show a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0245 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0046g0224 a0002c0002t0051g0204 a0002c0002t0054g0223 a0002c0002t0055g0219 a0002c0002t0057g0244 a0002c0002t0058g0243 a0002c0002t0063g0201	40	394	0.1015	185	c.199 others(200): Show c.199-944_199-943insGGCAGACCTGCTCCAGAAAATACGGCAGGC TGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGA CCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAA ACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTG CATTC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939088	A A	AGCAGACC others(178): Show AGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	394	0.0025	185	c.199 others(200): Show c.199-664_199-480dupCACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCA GAAAA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939528	A A	ATTCGGCA others(178): Show ATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCT GCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA CGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCAT TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18992.hp1 NA19009.hp2 others(2): Show HG02083.hp2 NA18992.hp1 NA19009.hp2 NA19066.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0005 a0001c0001t0007g0185 a0001c0001t0007g0186	5	394	0.0127	185	c.199 others(200): Show c.199-480_199-479insCACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCGTTCGGCAGACCTGCTCCA GAAAA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939549	A A	AAACACGG others(178): Show AAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGC TGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGA CCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAA ACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0236 a0002c0002t0062g0236	1	394	0.0025	185	c.199 others(200): Show c.199-480_199-479insCACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCA GAGAA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939642	C C	CGGCAGAC others(178): Show CGGCAGACCTGCTCCAGAGAACACGGCAGGCTGCATTCGGCAGACCTGCT CCAGAGAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGG CAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCG GCAGACCTGCTCCAGAGAACACGGCAGGCTGCATTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	394	0.0025	185	c.199 others(200): Show c.199-389_199-388insGGCAGACCTGCTCCAGAGAACACGGCAGGC TGCATTCGGCAGACCTGCTCCAGAGAACACGGCAGGCTGCATTCGGCAGA CCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAA ACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAGAACACGGCAGGCTG CATTT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8			chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131958926	A A	AAGGCGTG others(178): Show AAGGCGTGTGCTGATCCGCCATCCCACTGTGGAGAAGAAGGCGTGTGCTG ATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCC CTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGGA GGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0108 a0001c0001t0103g0108	1	394	0.0025	185	c.29 others(196): Show c.2966_*2967insCGTGTGCTGATCCGCCATCCCACTGTGGAGAAGA AGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCC TGTGGAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAG G	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	2967	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131959054	C C	CCCATCCC others(178): Show CCCATCCCCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGT GGAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTG TGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGACGTGTGCTGATCCCC CGTCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA20752.hp2 NA19058.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0092 a0001c0001t0065 a0001c0001t0092	a0001c0001t0065g0092 a0001c0001t0092g0053 a0001c0001t0065g0092 a0001c0001t0092g0053	2	394	0.0051	185	c.31 others(196): Show c.3114_*3115insTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGG AGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGACGTGTGCTGATCCCCCGTCCCCC TGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCCCTGTGGAGATGAAG G	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	3115	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131959057	A A	ATCCCCCT others(178): Show ATCCCCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTGGA GATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGT GCTGATCCCCCATCCCCCTGTGGAGATGAAGACGTGTGCTGATCCCCCGT CCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0172 a0001c0001t0066g0172	1	394	0.0025	185	c.31 others(196): Show c.3114_*3115insTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGG AGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGACGTGTGCTGATCCCCCGTCCCCC TGTGGAGATGAAGGCGTGTGCTGATCCGCCGTCCCCCTGTGGAGATGAAG G	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	3115	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP6R2_chr22_50338327_50450090	50343979	T T	TCCTCCAG others(178): Show TCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCC AGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAG TCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAG TGCCCCCTCCAGTCAGTTTCCCCCCAGTCAGTGCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0116 a0002c0007t0005g0116	1	340	0.0029	185	c.-14 others(202): Show c.-148+587_-148+588insCAGTCAGTTTCCCCCCAGTCAGTGCCCC CTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAG TCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTC AGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTG CCCCCTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	162011354	T T	TACTATAT others(178): Show TACTATATATAATATAGTATATATTTATGATATATACTATATATAATATA GTATATATTTATGATATATACTATATATAATATAGTATATATTTATGATA TATACTATATATAATATAGTATATATTTATGATATATACTATATATAATA TAGTATATATTTATGATATATACTATATTATTTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	185	c.619 others(204): Show c.619-37938_619-37937insTATAAATAATATAGTATATATCATAA ATATATACTATATTATATATAGTATATATCATAAATATATACTATATTAT ATATAGTATATATCATAAATATATACTATATTATATATAGTATATATCAT AAATATATACTATATTATATATAGTATATATCATAAATATATACTATATT ATATATAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRODH2_chr19_35794988_35817845	35809804	C C	CAAAAAAT others(178): Show CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	428	0.0023	185	c.597 others(202): Show c.597+2157_597+2158insTTTTTTTTTTTTTTTGTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTT	PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9			chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133833	C C	CTCTCCAC others(178): Show CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	227	0.0044	185	c.24 others(196): Show c.2401_*2402insTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCT G	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2121		chr19	TogoVar
PTPN23_chr3_47376021_47418435	47416615	C C	CTTTTTTT others(178): Show CTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	332	0.0030	185	c.34 others(196): Show c.3430_*3431insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTT T	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		3181		chr3	TogoVar
PXDNL_chr8_51314577_51814445	51599787	T T	TATCGTTT others(178): Show TATCGTTTAGATAATAAATTATATCTTATATAAATGATATCGTTTAGATA ATAAATTATATCTTATATAAATGATATCGTTTAGATAATAAATTATATCT TATATAAATGATATCGTTTAGATAATAAATTATATCTTATATAAATGACA TCGTTTAGATAATAAATTATATCTTATATAAATGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0058 a0011c0012t0001g0058	1	122	0.0082	185	c.237 others(202): Show c.237-7090_237-7089insGTCATTTATATAAGATATAATTTATTAT CTAAACGATGTCATTTATATAAGATATAATTTATTATCTAAACGATATCA TTTATATAAGATATAATTTATTATCTAAACGATATCATTTATATAAGATA TAATTTATTATCTAAACGATATCATTTATATAAGATATAATTTATTATCT AAACGAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(178): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTC CTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp2 HG01516.hp1 others(9): Show HG00673.hp1 HG01361.hp2 HG01516.hp1 HG02055.hp2 HG02145.hp1 HG02165.hp2 HG02735.hp1 HG03139.hp1 HG06807.hp1 NA18948.hp2 NA18957.hp2 NA19054.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0014c0013 a0001c0001 a0001c0002 a0014c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0050 a0001c0002t0009 a0014c0013t0001	a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0203 others(9): Show a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0006g0227 a0001c0001t0008g0191 a0001c0001t0010g0046 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0050g0168 a0001c0002t0009g0041 a0014c0013t0001g0278	12	295	0.0407	185	c.139 others(204): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCT CTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCT CACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD21L1_chr20_1221044_1260876	1259534	T T	TTCCCTCT others(178): Show TTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAACTGA TTTGGTATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAATATAAACACATAA AGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03540.hp2 HG02895.hp1 HG02896.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012	a0002c0002t0002g0075 a0002c0002t0004g0112 a0002c0002t0012g0111 a0002c0002t0002g0075 a0002c0002t0004g0112 a0002c0002t0012g0111	3	364	0.0082	185	c.50 others(196): Show c.5077_*5078insTCCCTCTTTTCTAATATAAACACATAAAGCTCTG CTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTAT AATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATC A	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3659		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1259660	T T	TTCCCTCT others(178): Show TTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAACTGA TTTGGTATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAATATAAACACATAA AGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0086 a0002c0002t0005g0086	1	364	0.0028	185	c.52 others(196): Show c.5203_*5204insTCCCTCTTTTCTAATATAAACACATAAAGCTCTG CTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTAT AATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATC A	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3785		chr20	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(178): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGGAAGGG AGACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGGCCGG GAAACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0064 a0004c0009t0001g0064	1	67	0.0149	185	c.173 others(202): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCC CCGAGTCTCCCTTCCCCCCCAGTCTCCCACCCCCCAGTCTCCCACCCCCC AGTCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGA GTCTCCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099703	C C	CCCCCCAC others(178): Show CCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCC CCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCCCCACAGC CCCCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCC CCACAGCCCCCCACAGCCCCCCACAGCCCCCCACAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	67	0.0149	185	c.56- others(202): Show c.56-25867_56-25866insCTGTGGGGGGCTGTGGGGGGCTGTGGGG GGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGC TGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGG GCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCT GTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099797	C C	CCCCCCCA others(178): Show CCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCACACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCAC ACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAC AGCCCCCACAGCAGCCCCCCCACAGCCCCCACACAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	67	0.0149	185	c.56- others(202): Show c.56-25961_56-25960insCTGTGTGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGCTGTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGC TGTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTG TGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099842	G G	GCCCCCCA others(178): Show GCCCCCCACAGCAGCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACA GCAGCCCCCCCACAGCCCCCACACAGCCCCCCACAGCAGCCCCCCCACAG CCCCCACACAGCCCCCACAGCAGCCCCCCCAGCAGCCCCCACAGCAGCCC CCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0006 a0008c0012t0002g0006	1	67	0.0149	185	c.56- others(202): Show c.56-26006_56-26005insTGGGGGGCTGTGGGGGGCTGTGGGGGGG CTGTGGGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGCTGTGGGGGCTG TGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGTGGGGGCTGTGGG GGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGCTG TGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554286	T T	TCCTCTCC others(178): Show TCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCT CACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCC CTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp2 others(11): Show HG00323.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG02155.hp2 HG02300.hp1 HG02683.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 NA18970.hp1 NA18971.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0051 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0002g0150 a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0003g0086 a0001c0001t0007g0009 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0053	14	154	0.0909	185	c.-32 others(206): Show c.-320+56539_-320+56540insGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554427	C C	CACCTGGC others(178): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	154	0.0065	185	c.-32 others(206): Show c.-320+56398_-320+56399insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(178): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01934.hp2 others(2): Show HG00642.hp2 HG01109.hp2 HG01934.hp2 NA18983.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0003	a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0002t0001g0080 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0002t0001g0080 a0001c0002t0003g0047 a0001c0005t0003g0075	5	154	0.0325	185	c.-32 others(206): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(178): Show TATATATATAATATATATAATATATATATATTATATATATATAAAATATA TATATAATATATATATTATATATATATTATATATATAATATATATATAAT ATATATATATAATATATATATAATATATATATAATATATATATAATATAT ATAATATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20300.hp2 HG02647.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0231 a0003c0003t0008g0241 a0003c0003t0008g0231 a0003c0003t0008g0241	2	410	0.0049	185	c.67- others(198): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATA TTATATATATTATATATATATTATATATATATTATATATATATTATATAT ATATATTATATATATATTATATATATAATATATATATAATATATATATTA TATATATATTTTATATATATATAATATATATATATTATATATATTATATA TAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(178): Show TATATATATAATATATATAATATATATATTATATATATATATAAAATATA TATATATAATATATATAATATATATATTATATATATATAAAATATATATA TAATATATATAATATATATATTATATATAATATATATATAATATATATAT ATATAATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA21309.hp2 HG01175.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0056 a0003c0003t0005g0056	2	410	0.0049	185	c.67- others(198): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATT ATATATATATATATTATATATATATTATATATAATATATATATTATATAT ATTATATATATATTTTATATATATATAATATATATATTATATATATTATA TATATATATTTTATATATATATATAATATATATATTATATATATTATATA TAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(178): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	448	0.0022	185	c.47 others(196): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(178): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	448	0.0022	185	c.47 others(196): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(178): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	280	0.0036	185	c.3+2 others(200): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAA AGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(178): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGGGGGGTGGGGCGGGGCCCGCCC GGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGG GGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGC CGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02280.hp1 others(9): Show HG01496.hp2 HG01891.hp1 HG02280.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0006 a0001c0001t0002 a0001c0001t0009 a0001c0002t0006	a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 others(8): Show a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0009g0066 a0001c0001t0009g0068 a0001c0002t0006g0012	12	356	0.0337	185	c.-36 others(200): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGGGGGGT GGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTG CGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCG CCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCC GCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(178): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTCACAGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0068 a0001c0004t0068	a0001c0004t0068g0125 a0001c0004t0068g0125	1	292	0.0034	185	c.108 others(204): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAG TGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(178): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTCAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0235 a0005c0007t0003g0235	1	292	0.0034	185	c.108 others(204): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTCAATGGGAATGGGGGCTT ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAG TGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(178): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp2 others(17): Show HG00438.hp2 HG00597.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG02074.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18973.hp1 NA20300.hp1	a0002 a0010 a0034 others(6): Show a0002 a0010 a0034 a0036 a0038 a0043 a0054 a0089 a0105	a0002c0002 a0002c0010 a0002c0034 others(9): Show a0002c0002 a0002c0010 a0002c0034 a0010c0016 a0010c0090 a0034c0062 a0036c0055 a0038c0056 a0043c0050 a0054c0069 a0089c0039 a0105c0128	a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 others(14): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0032 a0002c0010t0005 a0002c0034t0003 a0002c0034t0004 a0010c0016t0009 a0010c0090t0005 a0034c0062t0070 a0036c0055t0005 a0038c0056t0003 a0043c0050t0017 a0054c0069t0019 a0089c0039t0003 a0105c0128t0016	a0002c0002t0003g0230 a0002c0002t0004g0145 a0002c0002t0004g0155 others(16): Show a0002c0002t0003g0230 a0002c0002t0004g0145 a0002c0002t0004g0155 a0002c0002t0004g0183 a0002c0002t0005g0073 a0002c0002t0009g0105 a0002c0002t0032g0001 a0002c0010t0005g0186 a0002c0034t0003g0093 a0002c0034t0004g0094 a0010c0016t0009g0103 a0010c0090t0005g0104 a0034c0062t0070g0127 a0036c0055t0005g0076 a0038c0056t0003g0152 a0043c0050t0017g0223 a0054c0069t0019g0151 a0089c0039t0003g0196 a0105c0128t0016g0062	20	292	0.0685	185	c.108 others(204): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAG TGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355414	C C	CAGGGGAA others(178): Show CAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0088 a0088	a0088c0130 a0088c0130	a0088c0130t0051 a0088c0130t0051	a0088c0130t0051g0256 a0088c0130t0051g0256	1	292	0.0034	185	c.108 others(204): Show c.10862+838_10862+839insAGGGGAAGAAGCGGGGTGAACGGGAA TGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAG GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATG GGGGCTTAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPA3_chr7_7631518_7723607	7678644	A A	ATATATTT others(178): Show ATATATTTATATACTTAATTTATAGATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATG TATTTAGTTTATAAATATATATTTATGTATTTAGTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	308	0.0033	185	c.-75 others(204): Show c.-758+7185_-758+7186insAACTAAATACATAAATATATATTTAT AAACTAAATACATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATAT ATATTTATAAACTAAATATATAAATATATATTTATCTATAAATTAAGTAT ATAAATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPS6KA5_chr14_90842861_91065641	90885552	C C	CAAAAAAA others(178): Show CAAAAAAAAAAAAAAAAAAAAAATTAGACGGGCGAGGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0014 a0001c0001t0052g0014	1	306	0.0033	185	c.183 others(204): Show c.1836+4934_1836+4935insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGTCTAATTTTTTTTTTTTT TTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16			chr14	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(178): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0003 a0001c0085t0003	a0001c0085t0003g0162 a0001c0085t0003g0162	1	196	0.0051	185	c.348 others(204): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963736	A A	ACCCCGTC others(178): Show ACCCCGTCCGCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCC CGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0066 a0001c0040t0066	a0001c0040t0066g0180 a0001c0040t0066g0180	1	196	0.0051	185	c.394 others(202): Show c.3940-518_3940-517insGCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCCGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATTAT others(178): Show TATATTATATATATAATATATAATATATTATATATAATATATTATATATT ATATCTATAATATATAATATATTATATCTATAATATATTATATGTAATAT ATATGTTATATCTATAATATATATTATATCTATAATATATAATATATTAT ATCTATAAATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	172	0.0058	185	c.242 others(202): Show c.242-4111_242-4110insTATATATTATAGATATAATATATTATAT TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATTACATATAATATATTATAGATATAATATATTATATATT ATAGATATAATATATAATATATTATATATAATATATTATATATTATATAT ATAATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUNX1_chr21_34782801_35054302	34849315	T T	TATATAGT others(178): Show TATATAGTATATATACTATATTATATATAGTATATATACTATATTATATA TAGTATATATACTATAGTATATAGTATATATACTATAGTATATATACTAT ATATAATATAGTATATATACTATATATAATATATAGTATATATAATATAT TATATATAGTATATATTATATATAGTATAATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	170	0.0059	185	c.613 others(204): Show c.613+10158_613+10159insTATATATTATACTATATATAATATAT ACTATATATAATATATTATATATACTATATATTATATATAGTATATATAC TATATTATATATAGTATATATACTATAGTATATATACTATATACTATAGT ATATATACTATATATAATATAGTATATATACTATATATAATATAGTATAT ATACTATAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCTCACC others(178): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTC CCTCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTC CCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCC TCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01109.hp2 others(21): Show HG00558.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp2 HG02451.hp1 HG02486.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0017	a0001c0006 a0001c0016 a0002c0005 others(12): Show a0001c0006 a0001c0016 a0002c0005 a0002c0008 a0002c0018 a0002c0021 a0003c0002 a0003c0012 a0003c0017 a0003c0037 a0003c0040 a0003c0062 a0004c0076 a0008c0054 a0017c0048	a0001c0006t0004 a0001c0016t0003 a0002c0005t0003 others(13): Show a0001c0006t0004 a0001c0016t0003 a0002c0005t0003 a0002c0008t0003 a0002c0018t0003 a0002c0021t0003 a0003c0002t0003 a0003c0002t0004 a0003c0012t0004 a0003c0017t0004 a0003c0037t0003 a0003c0040t0003 a0003c0062t0004 a0004c0076t0004 a0008c0054t0003 a0017c0048t0004	a0001c0006t0004g0212 a0001c0016t0003g0174 a0002c0005t0003g0114 others(21): Show a0001c0006t0004g0212 a0001c0016t0003g0174 a0002c0005t0003g0114 a0002c0005t0003g0125 a0002c0008t0003g0059 a0002c0008t0003g0177 a0002c0018t0003g0104 a0002c0021t0003g0209 a0003c0002t0003g0045 a0003c0002t0003g0158 a0003c0002t0003g0197 a0003c0002t0004g0074 a0003c0002t0004g0248 a0003c0012t0004g0023 a0003c0012t0004g0038 a0003c0012t0004g0049 a0003c0012t0004g0052 a0003c0017t0004g0005 a0003c0037t0003g0126 a0003c0040t0003g0122 a0003c0062t0004g0037 a0004c0076t0004g0238 a0008c0054t0003g0168 a0017c0048t0004g0065	24	262	0.0916	185	c.249 others(204): Show c.2495+1508_2495+1509insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGT GAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGG AGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAP_chr3_47408681_47480941	47416615	C C	CTTTTTTT others(178): Show CTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	304	0.0033	185	c.305 others(202): Show c.3056+506_3056+507insAAAAAAAAAAAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAA	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	18/22			chr3	TogoVar

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