Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(206): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp2 HG00597.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0055 a0001c0001t0001g0057	2	306	0.0065	213	c.349 others(232): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(206): Show CTTTTAACATGGCAGTCATATATAATATATATTATAGAATATTATATATT ATATATTATATAATATATATTATAGAATATTATATATTATATATTATATA ATATATATTATAGAATATATATTATATATTATATAATATATATTATAGAA TATATATTATATATTATATAATATAATTATATATTATGTAATTATATAAT TATATAATTATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	310	0.0032	213	c.33+ others(228): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATAGAATATTATATATTATATATTATATAATATATATTATAGAATATT ATATATTATATATTATATAATATATATTATAGAATATATATTATATATTA TATAATATATATTATAGAATATATATTATATATTATATAATATAATTATA TATTATGTAATTATATAATTATATAATTATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394718	A A	ATGAATAT others(206): Show ATGAATATATATGAATATATGTATATATATGATTATATATGAATATATAT ATGAATATATATGTATATATGTATACATTATATGAATATATATGATTATA TATGAATATATATGATTATATATGAATATATATGAATATATATGAATATA TATGAATATATAAATATATATAAATATATATGAATATATATGAATATATA TGATTATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0146 a0001c0002t0067g0146	1	188	0.0053	213	c.190 others(232): Show c.190-46477_190-46476insCATATATATAATCATATATATTCATA TATATTCATATATATTTATATATATTTATATATTCATATATATTCATATA TATTCATATATATTCATATATAATCATATATATTCATATATAATCATATA TATTCATATAATGTATACATATATACATATATATTCATATATATATTCAT ATATAATCATATATATACATATATTCATATATATTCA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(206): Show ACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTC CCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0038 a0010c0038	a0010c0038t0034 a0010c0038t0034	a0010c0038t0034g0121 a0010c0038t0034g0121	1	422	0.0024	213	c.31 others(224): Show c.3153_*3154insCCAACCCCGGGAACCGCCTCCCACGACCCCCAAT CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCAC GACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(206): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTATATATAATATAATATATATT ATATATAAAAATATATTTATATATATTATATTATATACAATATATTATAT ATATTATATTATATATAATATATTATATATATTATATTATATATTATATA TTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	213	c.-50 others(224): Show c.-5036_-5035insTATAATATATATAATATATAATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTGTATATAA TATAATATATATAAATATATTTTTATATATAATATATATTATATTATATA TAATATATATTATATATAATATATATTATATTATATATAATATATTTTTA TATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50343963	C C	CCCCCCAG others(206): Show CCCCCCAGTCAGTGCCTCCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCC TCCAGTCAGTTTCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGT CAGTGCCCCCTCTAGTCAGTTCCCCCCAGTCAGTGCCCCCTCTAGTCAGT TCCCCCCCAGTCAGTGCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCTC CTCCAGTCAGTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0225 a0001c0005t0002g0225	1	340	0.0029	213	c.-14 others(230): Show c.-148+431_-148+432insCTCCAGTCAGTTTCCCCCAGTCAGTGCC TCCTCCAGTCAGTTTCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCC AGTCAGTGCCCCCTCTAGTCAGTTCCCCCCAGTCAGTGCCCCCTCTAGTC AGTTCCCCCCCAGTCAGTGCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGC CTCCTCCAGTCAGTTTTCCCCCAGTCAGTGCCTCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344239	C C	CCCCCAGT others(206): Show CCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCT CTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAG TCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCA GTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCT CCTCCAGTCAGTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0100 a0001c0005t0002g0100	1	340	0.0029	213	c.-14 others(230): Show c.-148+723_-148+724insCAGTCAGTGCCCCCTCTAGTCAGTTCCC CCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTC TAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTTCCCCCAGTC AGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTT TCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41855975	T T	TTCCCTCC others(206): Show TTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTCCCTT CCTTTCCTTCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCTTCCTTCC CTCCCTCCCCTCCCTTCCTTCCTTCCCTCCTTCCCCTCCCTCCCTTCCTT TCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTCCTTCCTTCCCTCC CTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	406	0.0025	213	c.286 others(230): Show c.286-1158_286-1157insGGGAGGGAGGGGAGGGAGGGAAGGAAGG AAAGGAAGGGAGGGAGGGGAGGGAGGGAAGGAAGGAAAGGAAGGGAGGGA GGGGAAGGAGGGAAGGAAGGAAGGGAGGGGAGGGAGGGAAGGAAGGAAGG GAAGGAAGGGAGGGGAGGGAGGGAAGGAAGGAAAGGAAGGGAGGGAGGGG AGGGAGGGAAGGAAGGGAGGGAGGGGAGGGAGGGA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKCA_chr17_66297613_66815743	66798407	A A	ACGGTGGT others(206): Show ACGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGT GACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0039 a0001c0001t0042g0039	1	178	0.0056	213	c.185 others(232): Show c.1855-5466_1855-5465insCGGTGGTGGTGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGT GGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(206): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCT CCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	94	0.0106	213	c.191 others(234): Show c.191-103924_191-103923insCTCTCCACTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	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(206): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCT CCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(12): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG02109.hp1 HG02647.hp1 HG02698.hp1 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03831.hp1 HG04199.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0003c0013 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0011 a0003c0004t0001 a0003c0004t0013 a0003c0013t0001 a0007c0017t0002	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0079 others(12): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0004g0028 a0002c0002t0001g0041 a0002c0002t0011g0056 a0003c0004t0001g0048 a0003c0004t0001g0070 a0003c0004t0013g0054 a0003c0013t0001g0004 a0007c0017t0002g0013	15	94	0.1596	213	c.191 others(234): Show c.191-103924_191-103923insCTCTCCTCTCCACTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAE1_chr20_57346255_57384202	57350883	G G	GGGGCGGG others(206): Show GGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGACGG GGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGG GGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGACGG GGGCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGC GGGGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	342	0.0029	213	c.-54 others(222): Show c.-547_-546insGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGG GGCGGGGGGACGGGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGG GCGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGG GGCGGGGGGACGGGGGCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGGCG GGGGGGCGGGGGCGGGGGGGCGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		371		chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(206): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCCATCCCCCGTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG02074.hp2 others(22): Show HG00323.hp2 HG01255.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03579.hp2 HG04199.hp1 NA18946.hp2 NA18947.hp2 NA19010.hp1 NA19070.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0025 a0001c0002t0009	a0001c0001t0001g0133 a0001c0001t0001g0244 a0001c0001t0001g0256 others(17): Show a0001c0001t0001g0133 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0002g0255 a0001c0001t0003g0006 a0001c0001t0003g0034 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0145 a0001c0001t0003g0239 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0016g0240 a0001c0001t0025g0148 a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0268	25	452	0.0553	213	c.757 others(228): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RGS12_chr4_3288021_3444913	3309131	C C	CGGGAATG others(206): Show CGGGAATGGCAGGTGTCTGCTGAGGAGAACCGGGTGGGAGAGGAGCTGGG ATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCT GGGACCCAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGA GCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAG AGGAGCTGGGGCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0001 a0022c0042t0001	a0022c0042t0001g0138 a0022c0042t0001g0138	1	312	0.0032	213	c.-10 others(232): Show c.-101-6915_-101-6914insAGAACCGGGTGGGAGAGGAGCTGGGA TCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCCAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAG CTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGA GGAGCTGGGGCCTGGGAATGGCAGGTGTCTGCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309961	G G	GGGAGGAG others(206): Show GGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTG CAGGGGAGGAGCTGGGACCCGGGAATGACAGGTGTCCGCTGAGGGGAACC GTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGAG AGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTGTCTGCTGAG GGGAACTGTGTTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0129 a0001c0013t0001g0129	1	312	0.0032	213	c.-10 others(232): Show c.-101-6093_-101-6092insTGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCAGGGGAGGAGCTGGGACCCGGGAATGACAGGTGTCCGCTGAG GGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTC TGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTGTC TGCTGAGGGGAACTGTGTTGAGGAGGAGCTGGGACCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310263	T T	TCTGAGGG others(206): Show TCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGT GTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCA GGTGTCTGCTGAGGGGAACTGTGTTGAGGAGGAGCTGGGACCCGGGAATG GCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGA ATGGCAGGTGTCCG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0310 a0001c0023t0001g0310	1	312	0.0032	213	c.-10 others(232): Show c.-101-5791_-101-5790insGGGGGAGGAGCTGGGACCCGGGAAAT GGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGG AATGGCAGGTGTCTGCTGAGGGGAACTGTGTTGAGGAGGAGCTGGGACCC GGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGA CCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPOR2_chr6_24799284_24940960	24927182	T T	TCACCACC others(206): Show TCACCACCACCACAACTACAATCACCACCACCACCATCACTACCACCAGC ACCACTACAACTACAATCACCACCATCACCATCACTACCACCAGCACCAC TACAACTACAATCACCATCACCACCACCACCACAACTACAATCACCACCA CCACCACCACAACTACAATCACCACCACCACCACTACAACTACAGTTACC ACCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19054.hp1 HG02074.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0003 a0001c0003t0002 a0002c0002t0003	a0001c0003t0002g0038 a0002c0002t0003g0063 a0001c0003t0002g0038 a0002c0002t0003g0063	2	328	0.0061	213	c.61+ others(228): Show c.61+8655_61+8656insGTGGTGATGGTGGTGGTAACTGTAGTTGTA GTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATTGTAGT TGTGGTGGTGGTGGTGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAG TGATGGTGATGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATG GTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927182	T T	TCACCACC others(206): Show TCACCACCACCACAACTACAATCACCACCACCACCATCACTACCACCAGC ACCACTACAACTACAATCACCACCATCACCATCACTACCACCAGCACCAC TACAACTACAATCACCATCACCACCACCACCACAACTACAATCACCACCA CCACCACTACAACTACAATCACCACCACCACCACTACAACTACAGTTACC ACCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01106.hp2 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0217 a0002c0002t0005g0218	2	328	0.0061	213	c.61+ others(228): Show c.61+8655_61+8656insGTGGTGATGGTGGTGGTAACTGTAGTTGTA GTGGTGGTGGTGGTGATTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGT TGTGGTGGTGGTGGTGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAG TGATGGTGATGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATG GTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(206): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATTTATATATATATTTTTAAAT ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	408	0.0025	213	c.182 others(230): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATTTATATATATATTT TTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CCCCACCT others(206): Show CCCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCACTTGACCTG TAGTCCCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTC CACTGACCTGCAGTCCCTGTGCCCCCACCTCCATTGACCTGTAATCCCTG TGACTCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCACTGAC GTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	213	c.351 others(230): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGGATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAAGTGGAG GTGGGGCACAGGGACTACAGGTCAGTGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340478	C C	CCGGGCTC others(206): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCT CCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACAC TCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCTC CCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC GTCCACACTCACTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	213	c.-21 others(232): Show c.-212-6545_-212-6544insCAGTGAGTGTGGACGTGGGGAGGCCT GGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGT GAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCC GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(206): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCC TTTCTTCATCACTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG03130.hp1 HG02723.hp2 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0019 a0001c0004 a0001c0013 a0001c0019	a0001c0004t0010 a0001c0013t0010 a0001c0019t0031 a0001c0004t0010 a0001c0013t0010 a0001c0019t0031	a0001c0004t0010g0160 a0001c0013t0010g0155 a0001c0019t0031g0235 a0001c0004t0010g0160 a0001c0013t0010g0155 a0001c0019t0031g0235	3	244	0.0123	213	c.193 others(232): Show c.1938+2093_1938+2094insAAGTGATGAAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(206): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATATATTATAGATATAATATATAATA GATTATATATATAATATATAATATATTATATATAATATATTATATATTAT ATCTATAATATATAATATATTATATCTATAATATATTATATGTAATATAT ATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18944.hp1 HG02155.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0166 a0001c0001t0001g0033 a0001c0001t0001g0166	2	172	0.0116	213	c.242 others(230): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATAATCTATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(206): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATATATTATAGATATAATATATAATA TATTATATATATAATATATAATATATTATATATAATATATTATATATTAT ATCTATAATATATAATATATTATATCTATAATATATTATATGTAATATAT ATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(15): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01243.hp2 HG01346.hp2 HG02040.hp2 HG02257.hp2 HG03139.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18964.hp2 NA18981.hp2 NA19009.hp1 NA19043.hp1 NA19070.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0046 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0002g0001 a0001c0001t0006g0055 a0001c0001t0007g0172	18	172	0.1047	213	c.242 others(230): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(206): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATATATTATAGATATAATATATAATA TATTATATCTATAATATATAATATATTATATATAATATATTATATATTAT ATCTATAATATATAATATATTATATCTATAATATATTATATGTAATATAT ATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	172	0.0058	213	c.242 others(230): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATAGATATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(206): Show GGAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAA GGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAG GAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0180 a0001c0003t0004g0181 a0001c0003t0004g0180 a0001c0003t0004g0181	2	396	0.0051	213	c.807 others(230): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT CCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTC TTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTT CTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCTC CCTCCCTCCTCCTCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668728	C C	CCCCTCAT others(206): Show CCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCTCCCTCTCCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCC TTACCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0004 a0003c0022t0004	a0003c0022t0004g0254 a0003c0022t0004g0254	1	262	0.0038	213	c.249 others(232): Show c.2495+1855_2495+1856insAAGAGGGAGGGTAAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(206): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATATACATATATAATATATGTATATATATATACATATATAATATATGTAT ATATATACATATATTATATATGTATATATAATATACATATATAATATATG TATATTATTTATATAATATACATATATAATATATGTATATATATAATATA CATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	100	0.0100	213	c.64- others(230): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TATACATATATAATATATGTATATATATATACATATATAATATATGTATA TATATACATATATTATATATGTATATATAATATACATATATAATATATGT ATATTATTTATATAATATACATATATAATATATGTATATATATAATATAC ATATATAATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(206): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0282 a0005c0016t0001g0282	1	290	0.0035	213	c.464 others(226): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(206): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGT TGGGTGAGGGGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0284 a0008c0007t0004g0284	1	290	0.0035	213	c.464 others(226): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGGTTGGGTGAGGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCCCTGCT others(206): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	290	0.0035	213	c.166 others(230): Show c.1663-421_1663-420insCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83617457	A A	ATAATATA others(206): Show ATAATATATAATTTTATATAAATAATATATAATTTTATATAAATTTTATA TAAATAATATATAATTTTATATAAATTTTATATAAATAATATATAATTTT ATATAAATTTTATATAAATAATATATAATTTTATATAAATTTTATATAAG TAATATATAATTTTATATAAATTTTATATAAGTAATATATAATTTTATAT AAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0071 a0001c0008t0065g0071	1	226	0.0044	213	c.115 others(232): Show c.115+30970_115+30971insCTTATATAAAATTTATATAAAATTAT ATATTACTTATATAAAATTTATATAAAATTATATATTACTTATATAAAAT TTATATAAAATTATATATTATTTATATAAAATTTATATAAAATTATATAT TATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAATTTAT ATAAAATTATATATTATTTATATAAAATTATATATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77484739	G G	GTGATGTG others(206): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGATGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0141 a0002c0002t0031g0141	1	150	0.0067	213	c.913 others(230): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGATGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484739	G G	GTGATGTG others(206): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGATGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0067 a0002c0002t0055g0067	1	158	0.0063	213	c.859 others(230): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGATGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM1_chr22_24801211_24932578	24900391	C C	CTTTCTTT others(206): Show CTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTT CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	338	0.0030	213	c.261 others(232): Show c.2611-1429_2611-1428insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCT TCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAATAGAA others(206): Show GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0119 a0003c0008t0004g0119	1	256	0.0039	213	c.165 others(230): Show c.165+5260_165+5261insATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SKI_chr1_2223319_2315213	2281333	G G	GAGAGCGG others(206): Show GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAG GATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT GAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG CGGCGGAGATCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	330	0.0030	213	c.970 others(232): Show c.970-21641_970-21640insCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(206): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATATAATATATATATTATATATATGTTACATATATATAATAT ATATATTATATATATGTTATATATATATTACATATATATAATATATATAT TATATATATGTTAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	350	0.0029	213	c.624 others(228): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAATATATATATAACATATATATAATATATATATTATATATATGTA ACATATATATAATATATATATTATATATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053341	C C	CTATATAT others(206): Show CTATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTATATATATTATATATTTATA TATTATATATATTTATATATATTATATATATTATATATTTATATATTATA TATATTTATATATATTATATATTTATATATTATATATATTTATATATATT ATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0116 a0001c0001t0015g0116	1	336	0.0030	213	c.293 others(230): Show c.293+4106_293+4107insATATATAAATATATAATATATATAAATA TATATAATATATAAATATATAATATATATAAATATATATAATATATAAAT ATATAATATATATAATATATATAAATATATATAATATATAAATATATAAT ATATATAAATATATATAATATATAAATATATAATATATATAAATATATAT AATATATAAATATATAATATATATAAATATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(206): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TATTATATATTTATATATTATATATATTTATATATATTATATATATTTAT ATATATTATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG01074.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01516.hp1 HG01891.hp2 HG01993.hp2 HG02056.hp1 HG02129.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19007.hp1 NA19064.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 a0001c0001t0032 a0004c0009t0004	a0001c0001t0001g0314 a0001c0001t0003g0227 a0001c0001t0004g0111 others(43): Show a0001c0001t0001g0314 a0001c0001t0003g0227 a0001c0001t0004g0111 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0246 a0001c0001t0004g0255 a0001c0001t0004g0273 a0001c0001t0004g0290 a0001c0001t0004g0296 a0001c0001t0007g0194 a0001c0001t0007g0201 a0001c0001t0007g0204 a0001c0001t0014g0190 a0001c0001t0014g0197 a0001c0001t0014g0241 a0001c0001t0027g0243 a0001c0001t0032g0167 a0004c0009t0004g0213	46	336	0.1369	213	c.293 others(230): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATAAATATA TATAATATATAAATATATAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(206): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATTATATATATTTATATATTATATATATTTATATA TATTATATATTTATATATTATATATATTTATATATATTATATATATTTAT ATATATTATATATT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	336	0.0030	213	c.293 others(230): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATATAATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATAAATATA TATAATATATAAATATATAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(206): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	158	0.0063	213	c.284 others(232): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAAAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(206): Show GGAGAGAGGGAGAGAGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGAC CGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGA GAGAGGGAGAGAGGGAGAGGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0169 a0002c0001t0003g0169	1	188	0.0053	213	c.80 others(224): Show c.8066_*8067insTCCCTCCTCCCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCCCTCCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCC ACGGTCTCTCTCTCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLC9A3_chr5_465456_529449	502844	T T	TGACACAG others(206): Show TGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAG TGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGA AACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCCGTAACGACACAG ATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAGTGAGGCCG AAAGCCGCCGTAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	218	0.0046	213	c.212 others(232): Show c.212-10774_212-10773insGTTACGGCGGCTTTCGGCCTCACTGG TAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTAC GGCGGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACAC AGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCACTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	502924	T T	TGGGCGCT others(206): Show TGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGA AAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACC ACTCACTACCACTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCT GTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCC GTAACGACACAGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp1 NA18906.hp1 others(1): Show HG02559.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0004 a0013c0018 a0001c0001 a0002c0004 a0013c0018	a0001c0001t0001 a0001c0001t0005 a0002c0004t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0004t0025 a0013c0018t0004	a0001c0001t0001g0121 a0001c0001t0005g0170 a0002c0004t0025g0143 others(1): Show a0001c0001t0001g0121 a0001c0001t0005g0170 a0002c0004t0025g0143 a0013c0018t0004g0123	4	218	0.0184	213	c.212 others(232): Show c.212-10854_212-10853insGTCTGTGTCGTTACGGCGGCTTTCGG CCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTG TGTCGTTACGGCGGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCA CTGGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCAGTG GTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143448921	T T	TAATTATA others(206): Show TAATTATATAAATATAATTATAATTATATAATTATATAAAATATAATTAT AATTATATAATTATATTATATATAATTATATTATATAATTATATTAGATA TAATTATATTATATAATTATATAAGATATAATTATATTATATAATTATAT AAAATATAATTATATTATATAATTATATAAAATATAATTATATTATATAA TTATATAAAATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0022 a0003c0006t0022	a0003c0006t0022g0108 a0003c0006t0022g0108	1	108	0.0093	213	c.146 others(234): Show c.1469+18115_1469+18116insTATATTTTATATAATTATATAATA TAATTATATTTTATATAATTATATAATATAATTATATTTTATATAATTAT ATAATATAATTATATCTTATATAATTATATAATATAATTATATCTAATAT AATTATATAATATAATTATATATAATATAATTATATAATTATAATTATAT TTTATATAATTATATAATTATAATTATATTTATATAATT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(206): Show TAAATATATATATAATATATAAATATATATATATAAATATATATATAATA TATAAATATATATATATAAATATATATAATATATAAATATATATATAAAT ATATAATATATAAATATATATACAAATATATATATAATATATAAATATAT ACAAATATATATATAATATATAAATATATATACAAATATATATATAATAT ATAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04115.hp2 NA18612.hp2 HG01257.hp2 HG04115.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0044 a0001c0001t0001 a0001c0001t0004 a0001c0001t0044	a0001c0001t0001g0115 a0001c0001t0004g0086 a0001c0001t0044g0006 a0001c0001t0001g0115 a0001c0001t0004g0086 a0001c0001t0044g0006	3	190	0.0158	213	c.647 others(232): Show c.647-47812_647-47811insTATAAATATATATATAATATATAAAT ATATATATATAAATATATATAATATATAAATATATATATAAATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATAATATATAAATA TATATACAAATATATATATAATATATAAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850538	T T	TTATATAT others(206): Show TTATATATTATATATATATTATATATATTATGTATAATATATATTATATA TTATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATATTATATATATATTATATATATTATGTATAATA TATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA20805.hp1 NA18960.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0094 a0001c0001t0014 a0001c0001t0094	a0001c0001t0014g0115 a0001c0001t0094g0004 a0001c0001t0014g0115 a0001c0001t0094g0004	2	310	0.0065	213	c.784 others(228): Show c.784+735_784+736insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(206): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATATATATTATGTATAATATATATTATATATTATATATATTATGTAT AATATATATTATATATTATATATATATTATATATATTATGTATAATATAT ATTATATATTATATATATATTATATATATTATGTATAATATATATTATAT ATTATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0296 a0001c0001t0082g0296	1	310	0.0032	213	c.784 others(228): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATAATATATATTATACATAATATATATAATATATATAATATATATA TAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SORCS2_chr4_7187538_7747827	7363429	T T	TATCATCA others(206): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCGTGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCGTGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	168	0.0060	213	c.481 others(232): Show c.481-32801_481-32800insGTGCCTCACCATCATCATCACCATCA CCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCGTGCC TCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACCAT CACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCATT GTGGTGTATCACCATTACCATCACCGTCACCATAACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

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