Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0042 a0001c0001t0018g0042	1	286	0.0035	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAATATATTATATATA ATATAATATATATAATATATTATATATAATATATTATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(298): Show GTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA GTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03579.hp2 others(1): Show HG02895.hp2 HG02896.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225	4	270	0.0148	305	c.200 others(322): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPM1L_chr3_160751231_161083902	160945046	A A	ATAACTAT others(298): Show ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01928.hp1 HG02273.hp2 others(6): Show HG00597.hp1 HG01928.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp1 HG02717.hp2 HG02735.hp1 HG03139.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0001t0040	a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0002g0109 others(6): Show a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0002g0109 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0003g0148 a0001c0001t0005g0201 a0001c0001t0023g0168 a0001c0001t0040g0137	9	206	0.0437	305	c.400 others(324): Show c.400-16689_400-16688insAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R7_chr2_241145467_241188652	241180716	T T	TAAGAAGG others(298): Show TAAGAAGGTACGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01099.hp2 HG02109.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 others(13): Show a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0258 a0001c0001t0006g0259	16	396	0.0404	305	c.907 others(322): Show c.907-1917_907-1916insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAA AAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAG GCTAAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAGAAGGTACGCTC	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(298): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCC GGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGG TCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGC CTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAG GAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCC ACAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	210	0.0048	305	c.388 others(324): Show c.388-28664_388-28663insCACAGGATCCAGGAGAACAGGGCCTC CAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAG AACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACA GGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGG CAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTC CCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAG GGTCATGGGTCCCGGGGACAGGCAAGGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TTATATAT others(298): Show TTATATATATTATATAATATATATTATTATATATATTATATAATATATAT TATTATATATATTATATAATATATATTATATATATATTATATAATATATA TTATTATATATATTATATAATATATATATTATATATATTATATAATATAT ATTATTATATATATTATATAATATATATTATTATATATATTATATAATAT ATATTATTATATATATTATATAATATATATTATTATATATATTATATAAT ATATATTATTATATATATTATATAATATATATTATTATATATAATAAATA TTATTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0170 a0002c0007t0002g0170	1	228	0.0044	305	c.248 others(324): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATAATATATATTATATAATATATATAA TAATATATATTATATAATATATATAATAATATATATTATATAATATATAT AATATATATATTATATAATATATATAATAATATATATTATATAATATATA TATAATATATATTATATAATATATATAATAATATATATTATATAATATAT ATAATAATATATATTATATAATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTPN2_chr18_12787152_12889237	12887804	T T	TTAGATTA others(298): Show TTAGATTAATAAGTGAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02970.hp2 HG02615.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0012g0004	3	370	0.0081	305	c.-36 others(316): Show c.-3664_-3663insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAATTCACTTATTAATCTA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding		3568		chr18	TogoVar
PTPN3_chr9_109370700_109503307	109499103	C C	CAAAAATT others(298): Show CAAAAATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03130.hp1 others(1): Show HG01884.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0026 a0002c0002t0021 a0001c0001t0004 a0001c0001t0026 a0002c0002t0021	a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0026g0266 others(1): Show a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0026g0266 a0002c0002t0021g0265	4	290	0.0138	305	c.-90 others(314): Show c.-903_-902insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCAGAATTTTT	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding		797		chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCCGGGA others(298): Show CCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGC CCTCCCAGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGAGCCCTCCCAGGAGACCCGAGGCCGTCCAGAGCCCTCCCAGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	295	0.0034	305	c.126 others(324): Show c.1265+3418_1265+3419insAGCCCTCCCCGGGAGACCCGAGGCCG TCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCC CTCCCAGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCAGGAGACCCGAGGCCGTCCAGAGCCCTCCCAGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG CCCTTCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD51B_chr14_67814779_68483093	67982730	T T	TCTATGTT others(298): Show TCTATGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCAGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02647.hp2 others(5): Show HG02109.hp1 HG02572.hp1 HG02647.hp2 HG02895.hp1 HG03041.hp1 HG03225.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013	8	84	0.0952	305	c.756 others(324): Show c.756+95540_756+95541insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCAGCCTATGTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	67982730	T T	TCTATGTT others(298): Show TCTATGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCAGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	84	0.0119	305	c.756 others(324): Show c.756+95540_756+95541insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCAGCCTATGTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RASA3_chr13_113972783_114137623	114099933	C C	CCACAGCC others(298): Show CCACAGCCCCCCACAGCCCCCCCACAGCACCCCCCACAGCCCCCCCACAG CCCCCACAGCCCCCCCACAGCAGCCCCCCCGCAGCCCCCCCACAGCCCCC ACAGCAGCCCCCCCACAGCACCCCCCACAGCACCCCCCACAGCCCCCCGC AGCCCCCCCGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCACAGCAGCC CCCCCACAGCCCCCCCACAGCACCCCCCACAGCCCCCCGCAGCCCCCCGC AGCCCCCCCGCAGCCCCCACAGCAGCCCCCCCACAGCACCCCCCACAGCC CCCCCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	67	0.0149	305	c.56- others(322): Show c.56-26097_56-26096insTGGGGGGGCTGTGGGGGGTGCTGTGGGG GGGCTGCTGTGGGGGCTGCGGGGGGGCTGCGGGGGGCTGCGGGGGGCTGT GGGGGGTGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGCGGGGGGGCTGCGGGGGGCTGTGGGGGGTGCT GTGGGGGGTGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCGG GGGGGCTGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGT GCTGTGGGGGGGCTGTGGGGGGCTGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120337	G G	GCCAGGCG others(298): Show GCCAGGCGTCCATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAG GGCCCCCCCTCCTCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCCTCTC TCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGA TCAGGGCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTC TCTCCAGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGT CGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCC TTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	305	c.55+ others(322): Show c.55+12097_55+12098insAGAGAAGGGGGGGACTTGATCGACGCCT GGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGG GGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACG CCTGGCTGGAGAGAAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGG GAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGACCGA CGTCTGGCTGGAGAGAGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGA GAGGGAGGGGCCCTGATGGACGCCTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA4B_chr7_102474976_102522777	102489780	C C	CTTTTTTT others(298): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTCACTCTG TAGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGCAGCCTCCA ACTCCTGGGTTCAGGCTATCTTCCTGCCTCAGTCCCCCAAGTAGCTGGGA CTACAGGCACGCGCCACCACGCCCAGCTACTTTTTGTACTCTCCCTGACC ACTCTTAATAGGACAGACCGCTCCCTGCTATACCCCACTCTCTTCCCTCC CTTGCTCCCTTAGTCCCTTCTGGTTCCCTTCAAGTCACTATCACAATTTG CTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0015 a0011c0013t0015	a0011c0013t0015g0014 a0011c0013t0015g0014	1	59	0.0170	305	c.196 others(324): Show c.1969-1183_1969-1182insAAAAAGCAAATTGTGATAGTGACTTG AAGGGAACCAGAAGGGACTAAGGGAGCAAGGGAGGGAAGAGAGTGGGGTA TAGCAGGGAGCGGTCTGTCCTATTAAGAGTGGTCAGGGAGAGTACAAAAA GTAGCTGGGCGTGGTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGGGACT GAGGCAGGAAGATAGCCTGAACCCAGGAGTTGGAGGCTGCAGTGAACTAT GATCACACCACTGCACTCCAGCCTGGGCTACAGAGTGAGACCCTGTCTCT TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RASA4B	ENSG00000170667.16	transcript	ENST00000465829.6	protein_coding	17/20			chr7	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(298): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG03453.hp1 HG02976.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0019 a0001c0002t0028 a0001c0001t0008 a0001c0001t0019 a0001c0002t0028	a0001c0001t0008g0034 a0001c0001t0019g0055 a0001c0002t0028g0031 a0001c0001t0008g0034 a0001c0001t0019g0055 a0001c0002t0028g0031	3	68	0.0441	305	c.28- others(322): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(298): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	234	0.0043	305	c.88- others(322): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(298): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG03453.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0017 a0001c0001 a0001c0008 a0001c0017	a0001c0001t0042 a0001c0008t0009 a0001c0017t0018 a0001c0001t0042 a0001c0008t0009 a0001c0017t0018	a0001c0001t0042g0196 a0001c0008t0009g0226 a0001c0017t0018g0227 a0001c0001t0042g0196 a0001c0008t0009g0226 a0001c0017t0018g0227	3	234	0.0128	305	c.88- others(322): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(298): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAG CTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGT TCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGGATTACAGGCA TGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTT TGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACC CGCCTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	280	0.0036	305	c.67- others(320): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCA ATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCC TCAGCCTCCCGAATAGGTGGGGATTACAGGCATGTGGCACCATGCCCGGC TAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCT GGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(298): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAA GCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGG TTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCA TGTGGCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTT TGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACC CGCCTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0243	1	280	0.0036	305	c.67- others(320): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGC AATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGC CTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCAGC TAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCT GGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(298): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAA GCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGG TTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCA TGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTT TGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACC CGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03491.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18987.hp1 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0032 a0001c0002t0045 a0001c0002t0047 a0001c0002t0054 a0001c0002t0055 a0001c0002t0062 a0001c0002t0067 a0001c0002t0072	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(111): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0007 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0178 a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0016g0037 a0001c0001t0019g0018 a0001c0001t0019g0039 a0001c0001t0022g0041 a0001c0001t0022g0053 a0001c0001t0022g0068 a0001c0001t0029g0074 a0001c0001t0029g0083 a0001c0001t0030g0044 a0001c0001t0031g0049 a0001c0001t0031g0078 a0001c0001t0040g0011 a0001c0001t0044g0026 a0001c0001t0052g0069 a0001c0001t0056g0019 a0001c0001t0059g0060 a0001c0001t0061g0016 a0001c0001t0065g0062 a0001c0001t0077g0013 a0001c0002t0001g0119 a0001c0002t0001g0249 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0002g0058 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0185 a0001c0002t0002g0237 a0001c0002t0002g0244 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0274 a0001c0002t0003g0048 a0001c0002t0003g0116 a0001c0002t0003g0238 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0268 a0001c0002t0003g0277 a0001c0002t0004g0186 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0006g0092 a0001c0002t0008g0239 a0001c0002t0008g0251 a0001c0002t0009g0017 a0001c0002t0012g0226 a0001c0002t0014g0168 a0001c0002t0015g0267 a0001c0002t0032g0266 a0001c0002t0045g0261 a0001c0002t0047g0091 a0001c0002t0054g0120 a0001c0002t0055g0235 a0001c0002t0062g0254 a0001c0002t0067g0183 a0001c0002t0072g0259	114	280	0.4071	305	c.67- others(320): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGC AATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGC CTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGC TAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCT GGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(298): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAA GCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGG TTCAAGCTATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCA TGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTT TGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACC CGCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02735.hp2 HG00639.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0052 a0001c0001t0053g0020 a0001c0001t0001g0052 a0001c0001t0053g0020	2	280	0.0071	305	c.67- others(320): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGC AATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCTATTCTTCTGC CTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGC TAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCT GGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56558309	G G	GTGCTGGG others(298): Show GTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAA TGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTC TTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATG CCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGC CAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTC CCAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0017 a0001c0003t0073 a0001c0002t0017 a0001c0003t0073	a0001c0002t0017g0093 a0001c0003t0073g0094 a0001c0002t0017g0093 a0001c0003t0073g0094	2	280	0.0071	305	c.67- others(320): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGC AATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGC CTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGC TAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCT GGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAA TGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(298): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGAGGAGA GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGAAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGG GAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	318	0.0031	305	c.36 others(316): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGG AGGGGAGGGAGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGG AGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGG GAGGAGGGGAGGGGGGAGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(298): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGG GGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG03688.hp2 HG01169.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0037 a0001c0001t0003g0016 a0001c0001t0003g0037	2	318	0.0063	305	c.36 others(316): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGG GGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGG GAGGGCGGGGAGGAGGGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RIN2_chr20_19753258_20007456	19924282	T T	TTCACACC others(298): Show TTCACACCCCACCTTCATACCCCCACCTTCATACCCCCACTTTCCATACC CCTACCTTCATTCCCCACCTTTTCATACCCCCACCTTCATACCCTACCTC TTTATACCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACC CCCACCTTCATACCCCACCTTCATACACCCACCTTCATACCCCACCTTCA TACCCTCACCTTCATACCCTCACCTCCATACCTCACCTTCCTACCCCCAC CTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACC CTCACC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18984.hp1 NA19000.hp2 others(1): Show NA18952.hp1 NA18984.hp1 NA19000.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 others(1): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0017	a0001c0002t0003g0217 a0001c0002t0006g0116 a0001c0002t0014g0154 others(1): Show a0001c0002t0003g0217 a0001c0002t0006g0116 a0001c0002t0014g0154 a0001c0002t0017g0201	4	276	0.0145	305	c.58- others(322): Show c.58-10816_58-10815insCACACCCCACCTTCATACCCCCACCTTC ATACCCCCACTTTCCATACCCCTACCTTCATTCCCCACCTTTTCATACCC CCACCTTCATACCCTACCTCTTTATACCCCCACCTTCATACCCCCACCTT CATACCCCCACCTTCATACCCCCACCTTCATACCCCACCTTCATACACCC ACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATA CCTCACCTTCCTACCCCCACCTTCATACCCCACCTTCATACCCTCACCTT CATACCCTCACCTCCATACCCTCACCT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIOK2_chr5_97155867_97188247	97179992	A A	AATATATA others(298): Show AATATATATATAAAATATATATATAAAATATATATATATAATATATATAT ATAAAATATATATATATAATATATATATATAAAATATATATATATAATAT ATATATATAAAATATATATATATAATATATATATATAAAATATATATATA AAATATATATATAATATATATATATAAAATATATATATAAAATATATATA TATAATATATATATAAAATATATATATATATTATATATATATATAAAATA TATATAAAATATATATATAATATATATATAAAATATATATATAATATATA TATAAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0187 a0002c0002t0028g0187	1	410	0.0024	305	c.67- others(318): Show c.67-800_67-799insATTATATATATATTATATATATATTTTATATA TATATTATATATATATTTTATATATATTTTATATATATATATAATATATA TATATATTTTATATATATATTATATATATATATTTTATATATATATTTTA TATATATATATTATATATATATTTTATATATATATTTTATATATATATAT TATATATATATATTTTATATATATATATTATATATATATATTTTATATAT ATATATTATATATATATATTTTATATATATATATTATATATATATATTTT ATATATATATTTTATATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATATAATATAT ATATAAAATATATATATATAATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATTATATATATATATTTTATATATATATTATATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATATTTTATATATATATT TTATATATATATATTATATATATATATTTTATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATAAAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTTTATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATAATATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0206 a0002c0002t0015g0206	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATATTATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATAATATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAATATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0175 a0002c0002t0015g0175	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATATTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATATTATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(24): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01106.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02698.hp2 HG03491.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA19006.hp1 NA19010.hp1 NA19055.hp1 NA19070.hp2 NA19081.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0048 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0048 a0002c0002t0001g0146 a0002c0002t0001g0155 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186	27	410	0.0659	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT ATAATATATATATATAAAATATATATATAAAATATATATATATAATATAT ATATAAAATATATATATATAATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATTATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATATAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0181 a0002c0002t0018g0181	1	410	0.0024	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTATATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(298): Show TAATATATATATAAAATATATATATATTATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03688.hp1 HG02735.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0183 a0002c0002t0022g0182 a0002c0002t0001g0183 a0002c0002t0022g0182	2	410	0.0049	305	c.67- others(318): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATAATA TATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(298): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0065 a0003c0003t0065	a0003c0003t0065g0169 a0003c0003t0065g0169	1	396	0.0025	305	c.-6+ others(318): Show c.-6+799_-6+800insGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCA GCCCCCCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(298): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAAGATATATATTAAATTA TATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAA TATACATATTTAAAGATATATATATTTAAATATATATATTTTTAATATAT ATATTTTTAAATATATATATATTTATATATATATTTTTATATATATATAT ATATTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	408	0.0025	305	c.182 others(322): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAAGATATATATT AAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAA TTTAAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTA ATATATATATTTTTAAATATATATATATTTATATATATATTTTTATATAT ATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF152_chr18_61803067_61898007	61897584	T T	TAAGAAAT others(298): Show TAAGAAATACTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0181 a0001c0001t0110g0181	1	310	0.0032	305	c.-49 others(316): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCAGTATTTCTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding		4578		chr18	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTATTTTTT CTTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	226	0.0044	305	c.199 others(322): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RUFY1_chr5_179545554_179615012	179550527	A A	ACCCCGCG others(298): Show ACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCCCCACCCCGCGCGCGCCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCG CGCCCCGCCCGCCCGCCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCC ACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGC CCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0254 a0001c0003t0002g0254	1	376	0.0027	305	c.-43 others(312): Show c.-43_-42insCCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CCCACCCCGCGCCCGCCCGCCCCCCACCCCGCGCGCGCCCCGCCCGCCCC CACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCGCGCCCCGCCCGCCCGCCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCAC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		26		chr5	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(298): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA19240.hp1 HG01884.hp2 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0195 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0195	3	210	0.0143	305	c.899 others(320): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134444407	C C	CTTCCCCC others(298): Show CTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTC CTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTC CCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTC CCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCC TCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCC CTCCCTCCTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCCTTCCCTCCTT CCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA18939.hp2 NA19068.hp2 HG02083.hp2 NA18939.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0185 a0001c0001t0005g0199 a0001c0001t0005g0004 a0001c0001t0005g0185 a0001c0001t0005g0199	3	232	0.0129	305	c.77 others(316): Show c.7793_*7794insTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCC CTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCC CCTCCTCCCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTCCTTCCTC CCTCCTTCCCTCCTTCCTCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3823		chr9	TogoVar
SART1_chr11_65956734_65985137	65970966	A A	AGCTGAGG others(298): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAAGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02615.hp2 others(1): Show HG02451.hp1 HG02572.hp1 HG02615.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0156 a0001c0005t0001g0012 a0001c0005t0001g0156	4	384	0.0104	305	c.157 others(324): Show c.1572+3178_1572+3179insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAAGGGGATGGTGGGATTCATGAGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(298): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGA AAACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTAGAC AGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCT CACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTC CAAGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0025	a0003c0003t0025g0097 a0003c0003t0025g0097	1	414	0.0024	305	c.678 others(320): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAGA GGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATAAAT AATTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGG CTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGG CTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(298): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTAGAC AGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCT CACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTC CAAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp2 others(90): Show HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18982.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA19030.hp2 NA19065.hp2 NA19076.hp1 NA19080.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0003c0003t0002 a0003c0003t0006 a0003c0003t0009 a0003c0003t0023 a0003c0005t0002	a0002c0002t0002g0008 a0002c0002t0002g0023 a0002c0002t0002g0034 others(82): Show a0002c0002t0002g0008 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0122 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0167 a0002c0002t0002g0194 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0236 a0002c0002t0002g0242 a0002c0002t0002g0258 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0274 a0002c0002t0002g0280 a0002c0002t0003g0025 a0002c0002t0003g0033 a0002c0002t0003g0040 a0002c0002t0003g0143 a0002c0002t0003g0146 a0002c0002t0003g0152 a0002c0002t0003g0175 a0002c0002t0003g0183 a0002c0002t0003g0189 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0195 a0002c0002t0003g0204 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0210 a0002c0002t0003g0219 a0002c0002t0003g0231 a0002c0002t0003g0237 a0002c0002t0003g0239 a0002c0002t0003g0241 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0009g0099 a0002c0002t0030g0100 a0002c0002t0032g0207 a0002c0002t0033g0240 a0003c0003t0002g0108 a0003c0003t0006g0051 a0003c0003t0006g0056 a0003c0003t0006g0066 a0003c0003t0006g0079 a0003c0003t0006g0084 a0003c0003t0006g0096 a0003c0003t0009g0022 a0003c0003t0009g0050 a0003c0003t0009g0052 a0003c0003t0009g0054 a0003c0003t0009g0055 a0003c0003t0009g0060 a0003c0003t0009g0064 a0003c0003t0009g0080 a0003c0003t0009g0089 a0003c0003t0023g0073 a0003c0005t0002g0282 a0003c0005t0002g0300 a0003c0005t0002g0303 a0003c0005t0002g0315 a0003c0005t0002g0321 a0003c0005t0002g0330	93	414	0.2246	305	c.678 others(320): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATA AATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGG CTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGG CTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(298): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAAC TGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGAC AGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCT CACTGCAGCCTCTAATTCTTGGCCTCAAGCAGTCCTCCCACCCCAGCCTC CAAGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0185 a0002c0002t0036g0185	1	414	0.0024	305	c.678 others(320): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGGCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGG CTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGG CTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(298): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAAC TGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGAC AGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCT CACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTC CAAGGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02132.hp2 HG02145.hp2 others(19): Show HG01167.hp1 HG02132.hp2 HG02145.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18959.hp1 NA18991.hp1 NA19043.hp1 NA19058.hp1 NA19067.hp2 NA19072.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0004 a0003c0003t0013 a0003c0003t0028 others(1): Show a0002c0002t0004 a0003c0003t0013 a0003c0003t0028 a0003c0005t0004	a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0115 others(12): Show a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0115 a0002c0002t0004g0127 a0002c0002t0004g0135 a0002c0002t0004g0140 a0002c0002t0004g0181 a0002c0002t0004g0235 a0003c0003t0013g0021 a0003c0003t0013g0068 a0003c0003t0013g0075 a0003c0003t0013g0087 a0003c0003t0013g0088 a0003c0003t0028g0065 a0003c0005t0004g0299	22	414	0.0531	305	c.678 others(320): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGG CTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGG CTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(298): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp1 NA18967.hp2 HG00621.hp1 NA18941.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0204 a0001c0001t0001g0353 a0001c0001t0001g0021 a0001c0001t0001g0204 a0001c0001t0001g0353	3	415	0.0072	305	c.227 others(324): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3BGRL2_chr6_79626329_79708655	79645302	T T	TTTAAATT others(298): Show TTTAAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0116 a0001c0001t0019g0116	1	348	0.0029	305	c.45+ others(322): Show c.45+13808_45+13809insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTAAATTCTTTT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SHC2_chr19_411589_466033	423099	T T	TCCTCCAG others(298): Show TCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTCCTGGTC CTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCC AGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCT CCCGCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0119 a0001c0001t0008g0119	1	212	0.0047	305	c.131 others(322): Show c.1310-948_1310-644dupGGCGGGAGACCAGGGAGTGAGGGTCAGG GCGGGAGGACCCCCCAGGACCAGGAGCTGGAGGGGCGGGAGACCAGGGAG TGAGGGTCAGGGCGGGAGGACCCCCCAGGACCAGGAGCTGGAGGGGCCGG AGACCAGGGAGTGAGGGTCAGGGCGGGAGGACCCCCCAGGACCAGGAGCT GGAGGGGCGGGAGACCAGGGAGTGAGGGTCAGGGCGGGAGGACCCCCCAG GACCAGGAGCTGGAGGGGCGGGAGACCAGGGAGTGAGGGTCAGGGCGGGA GGACCCCCCAGGACCAGGAGCTGGAGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401490	G G	GCCCGCTC others(298): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CCGCTCACCACCCGCCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACCACCCCGGCCCCCGCTCACACCCGCCCCGC TCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCGGCCCGCTCACACCCGCCCCCGCTCACCCC CCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	242	0.0041	305	c.44 others(316): Show c.4405_*4406insGCCGGGGGGGTGAGCGGGGGCGGGTGTGAGCGGG CCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGGG TGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTG TGAGCGGGGCGGGTGTGAAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGGCGGGTGGTGAGCGGGGGCCGGGGGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4225		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)