Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(188): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC CCTCTAACTGCACCGCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCC TCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 HG02717.hp1	a0097 a0097	a0097c0196 a0097c0196	a0097c0196t0015 a0097c0196t0015	a0097c0196t0015g0334 a0097c0196t0015g0334	1	224	0.0045	195	c.401 others(204): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGCGGTG CAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGC AGTTAGAGG	p.Glu others(210): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uAlaValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGlu ArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(188): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0037 a0037	a0037c0198 a0037c0199 a0037c0198 a0037c0199	a0037c0198t0009 a0037c0199t0009 a0037c0198t0009 a0037c0199t0009	a0037c0198t0009g0262 a0037c0199t0009g0265 a0037c0198t0009g0262 a0037c0199t0009g0265	2	303	0.0066	195	c.400 others(204): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG CAAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCT GCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGC AAGAAGAGG	p.Glu others(210): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGl uGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluG luGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGlu GlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(188): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19090.hp1 NA19090.hp1	a0149 a0149	a0149c0111 a0149c0111	a0149c0111t0001 a0149c0111t0001	a0149c0111t0001g0159 a0149c0111t0001g0159	1	277	0.0036	195	c.397 others(204): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGG	p.Glu others(210): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(188): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	90	0.0111	195	c.348 others(214): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(188): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	90	0.0111	195	c.348 others(214): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(188): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATAGATATAATATATAATATATTATATATATAATATA TAATATATTATATATAATATATTATATATTATATCTATAATATATAATAT ATTATATCTATAATATATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02074.hp2 HG03017.hp1 others(7): Show HG01261.hp2 HG02074.hp2 HG03017.hp1 HG03669.hp1 NA18955.hp2 NA18977.hp2 NA19011.hp2 NA19079.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005	10	137	0.0730	195	c.242 others(212): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RXRA_chr9_134321455_134445585	134369015	G G	GGGGGGGT others(188): Show GGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGGGTTATGTG TGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGT TATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGA GTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGGTTATGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	226	0.0044	195	c.29- others(212): Show c.29-32600_29-32599insGGGGGGGTTATGTGTGTATGGGGGGTTA TGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCG GGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGT GTGAGTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGGTTATGTGTGTGT GGGGGGTTATGTGTGTG		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
S1PR4_chr19_3173769_3185332	3177856	A A	ATCGGGCT others(188): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTTGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	327	0.0031	195	c.-93 others(204): Show c.-937_-936insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTTGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					912		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177895	C C	CTCGGGCT others(188): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	268	0.0037	195	c.-89 others(204): Show c.-898_-897insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCA		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					873		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178104	G G	GCCTCAGT others(188): Show GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGCCCTCAGTTTCCCCTTCTGCAACGCATCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	415	0.0024	195	c.-68 others(204): Show c.-689_-688insCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTCCCCTTCTGC AACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGG CTCTCTGGC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					664		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178168	A A	ATCGGGCT others(188): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG02572.hp2 others(5): Show HG01109.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	8	310	0.0258	195	c.-62 others(204): Show c.-625_-624insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					600		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178182	G G	GCCTCAGT others(188): Show GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGCCCTCAGTTTCCCCTTCTGCAACGCATCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0032	195	c.-61 others(204): Show c.-611_-610insCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGCCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTCCCCTTCTGC AACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGG CTCTCTGGC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					586		chr19	TogoVar
SAMD10_chr20_63969116_63984642	63970941	T T	TCCTTCCT others(188): Show TCCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACC TCCCTCCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCC TTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCC CTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	286	0.0035	195	c.45 others(206): Show c.4568_*4569insGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAG GAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAA GAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAGGAAG AGAAGGGAGGGAGGTAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAA AGGAAGGAAGG		SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding					3174		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970941	T T	TCCTTCCT others(188): Show TCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCC TCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCC TTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCC CTCCCTCCCTACCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01169.hp1 others(6): Show HG00280.hp2 HG00738.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02698.hp1 HG02723.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0005	9	294	0.0306	195	c.45 others(206): Show c.4568_*4569insGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAG GTAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAA GAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGAAGGGAAGGGAAGGAAG AGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGA GAAAAGGAAGG		SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding					3174		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970945	T T	TCCTTCCT others(188): Show TCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCC TTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTC CTTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCC CTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0048 a0001c0002t0006g0048	1	329	0.0030	195	c.45 others(206): Show c.4564_*4565insGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAG GGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAGGAA GGAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAG GAAGAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGA GAAAAGGAAGG		SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding					3170		chr20	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(188): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CCTGGTGAGGGGACATAGGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	201	0.0050	195	c.16 others(206): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGGCCTTGGTGAGG GGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCT		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1539		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(188): Show CTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	201	0.0050	195	c.16 others(206): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGG GGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCT		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1539		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277890	C C	CCCTCTCC others(188): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	376	0.0027	195	c.48 others(206): Show c.4895_*4896insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCT		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4731		chr11	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(188): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	113	0.0088	195	c.913 others(212): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(188): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	117	0.0085	195	c.859 others(212): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SFTPB_chr2_85652314_85673199	85666391	C C	CTGTGTGT others(188): Show CTGTGTGTGTGTGTGTGTCCGGCCCGCTGGGGTGTTGTGTGTGTGCTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGT ACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCA GCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0031 a0002c0003t0004g0031	1	402	0.0025	195	c.393 others(210): Show c.393+225_393+226insCAGCACCCTATCCAGACACATACACACACA CAGTACCCCAGCCAGCTGGAAACACACACACACACAGCACTCCATCCAGA CACATACCCACACAGTACCCCAGCCAGCCAGACACACACACACACACACA CACACACACACACACACACAGCACACACACAACACCCCAGCGGGCCGGAC ACACACACACACACA		SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10						chr2	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(188): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATAATATATTTTATTATA ATATAATATTATATTTTATTATAATATAATATTATATTATAATATAATAT AATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0001 a0001c0002t0010g0001	1	17	0.0588	195	c.192 others(214): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATATTTTATTATAATATAATAT TATATTTTATTATAATATAATATTATATTATAATATAATATAATATTGTA TTATATTTTATTATAATATAATATATTATATTATAATATATTATATTTTA TTATAATATAATATAATAT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(188): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	76	0.0132	195	c.691 others(214): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TTCCCTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	402041	G G	GGCCCCGC others(188): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGCGCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACCCCCAGCCCCGCTCACACCCGCCCGCTCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	225	0.0044	195	c.38 others(206): Show c.3854_*3855insGAGCGGGGCCGGGGGTGAGCGGGCGGGTGTGAGC GGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGC GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCCGGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3674		chr11	TogoVar
SKI_chr1_2223319_2315213	2280786	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	322	0.0031	195	c.970 others(214): Show c.970-22188_970-22187insGGACAGGCGGCGGCGGCGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280872	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	308	0.0032	195	c.970 others(214): Show c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280893	C C	CGATCTTC others(188): Show CGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAG AGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	196	0.0051	195	c.970 others(214): Show c.970-22068_970-22067insTGCCCGAGAGGACAGGCGGTGGTGGA GATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCG GAGATCTTCAGAGAGAGGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280902	G G	GAGAGAGG others(188): Show GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAG GTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	320	0.0031	195	c.970 others(214): Show c.970-22064_970-22063insTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGACGCC		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281001	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0283 a0001c0001t0065g0283	1	287	0.0035	195	c.970 others(214): Show c.970-21973_970-21972insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281054	G G	GGCGGTGG others(188): Show GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGA CAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	316	0.0032	195	c.970 others(214): Show c.970-21920_970-21919insTGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACATGCGG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281087	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	302	0.0033	195	c.970 others(214): Show c.970-21887_970-21886insGGACAGGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281130	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	296	0.0034	195	c.970 others(214): Show c.970-21844_970-21843insGGACAGGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281281	A A	AGATCTTC others(188): Show AGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0062 a0001c0001t0017g0062	1	314	0.0032	195	c.970 others(214): Show c.970-21679_970-21678insACCTGAGAAGACAGGCAGTGGCGGAG ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGG CGATCTTCAGAGAGAGGAC		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281648	C C	CGAGAAGA others(188): Show CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0006 a0001c0001t0051g0006	1	306	0.0033	195	c.970 others(214): Show c.970-21321_970-21320insTGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGTGAGAAGACA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281777	C C	CGAGAGGA others(188): Show CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	304	0.0033	195	c.970 others(214): Show c.970-21197_970-21196insGGACAGGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282035	C C	CGAGAAGA others(188): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19082.hp1 HG00621.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0046 a0001c0001t0010g0047	2	299	0.0067	195	c.970 others(214): Show c.970-20929_970-20928insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA CACGTGAGAAGACAGGCGG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282118	T T	TGCCCGAG others(188): Show TGCCCGAGAGGACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCA GAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0137 a0001c0001t0060g0137	1	159	0.0063	195	c.970 others(214): Show c.970-20852_970-20851insGGACAGGCAGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A6_chr15_34224784_34342781	34310644	G G	GTGTGTGT others(188): Show GTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGAG TGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAAC TCCTGGGCTCAAGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGGCCAGGC TAGTGTTGAACTCCTGGGCTCAACTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0216 a0001c0002t0002g0216	1	272	0.0037	195	c.271 others(214): Show c.271+25765_271+25766insTACACACACACACACACACACAGTTG AGCCCAGGAGTTCAACACTAGCCTGGCCACGGGGACACACACACACACAC ACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGACACA CACACACACACACACACACACTCTTGAGCCCAGGAGTTCAACACCAGCCT GGACACGGGGACACACACA		SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25						chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34310646	G G	GTGTGTGT others(188): Show GTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGAG TGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAAC TCCTGGGCTCAAGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGGCCAGGC TAGTGTTGAACTCCTGGGCTCAACTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 NA18981.hp2 others(5): Show HG01496.hp1 HG02273.hp2 NA18981.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19067.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0033 a0001c0002t0002 a0001c0002t0033	a0001c0002t0002g0221 a0001c0002t0002g0234 a0001c0002t0002g0235 others(5): Show a0001c0002t0002g0221 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0033g0207	8	234	0.0342	195	c.271 others(214): Show c.271+25763_271+25764insTACACACACACACACACACACAGTTG AGCCCAGGAGTTCAACACTAGCCTGGCCACGGGGACACACACACACACAC ACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGACACA CACACACACACACACACACACTCTTGAGCCCAGGAGTTCAACACCAGCCT GGACACGGGGACACACACA		SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25						chr15	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(188): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0285 a0001c0001t0001g0289	2	376	0.0053	195	c.-14 others(206): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGG		SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding					1356		chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429025	A A	ATATATAT others(188): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATATAATATATATATTATATATATGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02129.hp2 HG02132.hp2 others(2): Show HG00408.hp2 HG02129.hp2 HG02132.hp2 HG03927.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0155 a0002c0003t0001g0025 a0002c0003t0001g0090 others(1): Show a0001c0001t0001g0155 a0002c0003t0001g0025 a0002c0003t0001g0090 a0002c0003t0001g0239	5	295	0.0169	195	c.624 others(210): Show c.624+698_624+699insACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATATATAACATATATAT AATATATATATTATATATATATATAACATATATATAATATATATATTATA TATATATATAACATATATATAATATATATATTATATATATATATAACATA TATATAATATATATA		SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6						chr19	TogoVar
SLC43A3_chr11_57401954_57432121	57403550	G G	GGAAGAAG others(188): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGG AAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	74	0.0135	195	c.42 others(206): Show c.4241_*4242insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTCTTCCT CTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC		SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding					3403		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79911915	G G	GGGACGGG others(188): Show GGGACGGGAGCAGGGAGGGGACAGCAGCAGAGGGGACGGGAGCAGAGGGG ACAGGAGCAGTGAGGAGACGGAAGCAGAGGGGAGGCAGCAGGGAGAGGAC AGCAGCAGGAAGGGGACAGGAGCAGGGAGGGGAACAGTAGCAGGAGGGGA TGGCAGCAGGGAGGGGACAGGAGCAGGAAGGGGACAGGAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18983.hp2 NA19004.hp1 others(1): Show NA18955.hp1 NA18983.hp2 NA19004.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0199 others(1): Show a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0218	4	332	0.0120	195	c.608 others(212): Show c.608+7268_608+7269insTCCCCACTCCTGTCCCCTTCCTGCTCCT GTCCCCTCCCTGCTGCCATCCCCTCCTGCTACTGTTCCCCTCCCTGCTCC TGTCCCCTTCCTGCTGCTGTCCTCTCCCTGCTGCCTCCCCTCTGCTTCCG TCTCCTCACTGCTCCTGTCCCCTCTGCTCCCGTCCCCTCTGCTGCTGTCC CCTCCCTGCTCCCGTCC		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79911915	G G	GGGACGGG others(188): Show GGGACGGGAGCAGGGAGGGGACAGCAGCAGAGGGGACGGGAGCAGAGGGG ACAGGAGCAGTGAGGAGACGGGAGCAGAGGGGAGGCAGCAGGGAGAGGAC AGCAGCAGGAAGGGGACAGGAGCAGGGAGGGGAACAGTAGCAGGAGGGGA TGGCAGCAGGGAGGGGACAGGAGCAGGAAGGGGACAGGAGTGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp1 HG01928.hp1 others(15): Show HG00597.hp2 HG01261.hp1 HG01928.hp1 HG01981.hp2 HG02056.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG03453.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0004t0008	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0263 others(15): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0263 a0001c0001t0008g0212 a0001c0001t0008g0220 a0001c0001t0008g0227 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0265 a0001c0001t0008g0288 a0001c0001t0013g0039 a0001c0001t0013g0048 a0001c0001t0013g0059 a0001c0001t0013g0116 a0001c0001t0020g0184 a0001c0001t0020g0195 a0001c0001t0028g0264 a0001c0004t0008g0266	18	346	0.0520	195	c.608 others(212): Show c.608+7268_608+7269insTCCCCACTCCTGTCCCCTTCCTGCTCCT GTCCCCTCCCTGCTGCCATCCCCTCCTGCTACTGTTCCCCTCCCTGCTCC TGTCCCCTTCCTGCTGCTGTCCTCTCCCTGCTGCCTCCCCTCTGCTCCCG TCTCCTCACTGCTCCTGTCCCCTCTGCTCCCGTCCCCTCTGCTGCTGTCC CCTCCCTGCTCCCGTCC		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5						chr18	TogoVar
SLC6A11_chr3_10811228_10945714	10873384	T T	TTTATCCT others(188): Show TTTATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTAC CCTATCCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTAT CCTATCCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTAT CCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02896.hp1 others(3): Show HG02257.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0014 a0001c0002t0002 a0001c0003t0014	a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0244 others(3): Show a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0293 a0001c0003t0014g0059	6	213	0.0282	195	c.757 others(212): Show c.757-1577_757-1576insTTATCCTATCCTATCCTATCCTATCCTA TGGCATGCCATCCTACCCTACCCTATCCTACACTATCCTATCCTATCCTA TGCCATGCCATGCCATCCTATCCTATCCTATCCTATGCTATGCTATCCTA TCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATGCCATGCCA TGCCATGCCATCCTATC		SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13						chr3	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(188): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT TCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	358	0.0028	195	c.152 others(212): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAGAGAAAGAGA GAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10						chr19	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(188): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	2	0.5000	195	c.17 others(206): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(188): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0154 a0002c0003t0001g0154	1	144	0.0069	195	c.72+ others(212): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056542	A A	AGGAGGGA others(188): Show AGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGT CGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCCCGCTGTGGGGA GGGAGGGAGGGAGAGGGCGGCACCCCGCTGTGGGGAGGGAGGGAGAGCGT CGCGCTGTGCTGTGGGGAGGGAGGGAGAGCGCAGCGCCGTGCTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20805.hp2 HG01257.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0067 a0003c0008t0001g0059 a0001c0001t0001g0067 a0003c0008t0001g0059	2	160	0.0125	195	c.73- others(212): Show c.73-26974_73-26973insAGGGAGGGAGAGCGCAGCGCCACGCTGT GGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGG CGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGGGCGGCACCCCGCTGT GGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAGGGAGAGCG CAGCGCCGTGCTGTGGG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1361855	T T	TAGAACTT others(188): Show TAGAACTTCCATGAGAGTCACTGAGGCTGAGCATTTCAGTAGAACTTCCA TGAAAGTCACTGATGCTGAGCATTTCAGTAGAACTTCCATGAAGGTCACC GACGCTGAGCATTTCAGCAGAACTTCCATGAGAGTCACCAATGCTGAGCA TTTCAGTAGAACTTCCATGAAGGTCACCGACGCTGAGCATTTCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(46): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG01081.hp2 HG01106.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19084.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0020	a0001c0001 a0001c0002 a0002c0003 others(12): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0007c0017 a0007c0024 a0008c0031 a0014c0032 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0004c0004t0001 a0004c0014t0001 a0005c0006t0001 a0005c0015t0001 a0007c0017t0001 a0007c0024t0002 a0008c0031t0001 a0014c0032t0001 a0020c0021t0001	a0001c0001t0001g0187 a0001c0002t0001g0141 a0002c0003t0001g0015 others(46): Show a0001c0001t0001g0187 a0001c0002t0001g0141 a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0108 a0002c0003t0001g0122 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0013 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0121 a0002c0005t0001g0156 a0002c0005t0001g0164 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0080 a0004c0004t0001g0040 a0004c0004t0001g0065 a0004c0004t0001g0087 a0004c0004t0001g0112 a0004c0004t0001g0142 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0001g0036 a0004c0014t0001g0054 a0005c0006t0001g0176 a0005c0006t0001g0189 a0005c0015t0001g0037 a0007c0017t0001g0125 a0007c0024t0002g0073 a0008c0031t0001g0117 a0014c0032t0001g0062 a0020c0021t0001g0119	49	100	0.4900	195	c.148 others(214): Show c.1489-5475_1489-5474insGAGTCACTGAGGCTGAGCATTTCAGT AGAACTTCCATGAAAGTCACTGATGCTGAGCATTTCAGTAGAACTTCCAT GAAGGTCACCGACGCTGAGCATTTCAGCAGAACTTCCATGAGAGTCACCA ATGCTGAGCATTTCAGTAGAACTTCCATGAAGGTCACCGACGCTGAGCAT TTCAGCAGAACTTCCATGA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results