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 (≤).

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⚠️ 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
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(302): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCCGAG GCCGCCCAGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	295	0.0034	309	c.126 others(328): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02922.hp2 HG02559.hp2 HG02809.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0126 a0001c0001t0003g0256 a0001c0001t0003g0257	3	340	0.0088	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03209.hp1 HG02258.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0232 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0232	3	340	0.0088	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00735.hp1 others(38): Show HG00438.hp2 HG00558.hp1 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp2 HG02717.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19043.hp1 NA19064.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 others(38): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267	41	340	0.1206	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAACA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0248 a0001c0001t0001g0249	2	340	0.0059	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTGTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0326 a0001c0001t0004g0326	1	340	0.0029	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCACCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RALYL_chr8_84178274_84926844	84525029	G G	GCCTCAAT others(302): Show GCCTCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG00741.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0077 a0001c0001t0008g0028 a0001c0001t0001g0077 a0001c0001t0008g0028	2	82	0.0244	309	c.-23 others(326): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGACCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(302): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCACATGGTGAAACCCTGTCTCTACTAAAAATAC AAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0274 a0001c0003t0004g0274	1	438	0.0023	309	c.-37 others(320): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTGC CTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGC CTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTCCA CCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGA CTACAGGTGTGCACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar
RBFOX1_chr16_6014024_7718340	6372940	G G	GTTGTGTA others(302): Show GTTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGGT TGGTAAGGATCTTTGGGTAGGAGGATGGTTGGATGGAATGGAGATTCAGT GGCAGAGTATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGTAGG AGTATTGTCGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGGGAG GATTGTTGTTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGA TTCAGCGGAAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTG GGTAGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0035 a0001c0001t0023g0047 a0001c0001t0011g0035 a0001c0001t0023g0047	2	68	0.0294	309	c.-64 others(328): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTCGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTG GGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTG GATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAAT GGAGATTGGGTGGAAGTATAGTCGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6372940	G G	GTTGTGTA others(302): Show GTTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGGT TGGTAAGGATCTTTGGGTAGGAGGATGGTTGGATGGAATGGAGATTCAGT GGCAGAGTATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGTAGG AGTATTGTTGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGGGAG GATTGTTGTTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGA TTCAGCGGAAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTG GGTAGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(21): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00741.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03927.hp2 NA18522.hp2 NA18994.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0002c0003t0034	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0003g0049 a0001c0001t0009g0036 a0001c0001t0010g0037 a0001c0001t0017g0014 a0001c0001t0018g0052 a0001c0001t0024g0008 a0001c0001t0026g0051 a0001c0001t0030g0024 a0001c0001t0039g0019 a0001c0001t0040g0064 a0001c0001t0041g0021 a0001c0001t0043g0003 a0002c0003t0034g0061	24	68	0.3529	309	c.-64 others(328): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTG GGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTG GATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAAT GGAGATTGGGTGGAAGTATAGTCGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6372974	C C	CGGATGGG others(302): Show CGGATGGGAGGATGGTTGGTAAGGATCTTTGGGTAGGAGGATGGTTGGAT GGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGAAGGATAGTTCATT GTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGAGATTGGGTGGAAG TATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTGGGTAGGAGGATGT TTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTGGATAGAAGGATAG TTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAATGGAGATTGGGTGG AAGTATAGTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	68	0.0147	309	c.-64 others(328): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTG GGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTG GATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAAT GGAGATTGGGTGGAAGTATAGTTGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6373005	G G	GGTAGGAG others(302): Show GGTAGGAGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTG GATGGAAGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGG AATGGAGATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGA TCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTA TAGTTGGATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTG TAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGGTTGGTAA GGATCTTTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	68	0.0147	309	c.-64 others(328): Show c.-64+55964_-64+55965insATGGAATGGAGATTCAGTGGCAGAGT ATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGT TGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTG TTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGG AAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAG GATTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGG TTGGTAAGGATCTTTGTGTAGGAGGATGGTTGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6373196	G G	GGAAGTGT others(302): Show GGAAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTGGGTAGG AGGATTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGAT GGTTGGTAAGGATCTTTGGGTAGGAGGATGGTTGGGTGGAATGGAGATTC AGTGGCAGAGTATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGT AGGAGTATTGTTGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGG GAGGATTGTTGTTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGG AGATTCAGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02735.hp1 HG01261.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0057 a0001c0001t0016g0011 a0001c0001t0004g0057 a0001c0001t0016g0011	2	68	0.0294	309	c.-64 others(328): Show c.-64+56193_-64+56194insTGTGTAGAATGGAGATTGGGTGGAAG TATAGTCGGATGGGAGGATGGTTGGTAAGGATCTTTGGGTAGGAGGATGG TTGGGTGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGAAGGATAG TTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGAGATTGGG TGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTGGGTAGGA GGATGTTTGGGTGGAGTGGAGATTCAGCAGAAGTGTATAGTTGGATAGAA GGATAGTTCGTTGGGATCACTGGGTAGGAGGAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79495482	A A	AGGAAGGT others(302): Show AGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGG GGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGGCAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAG GGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGT GCAGAGGGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	154	0.0065	309	c.-31 others(330): Show c.-319-12885_-319-12884insCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCCTCTGCACCCCTGCCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCC TCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTC CCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCC ACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(302): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCAC CCAAGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCC CGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACA GGCATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGG GTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAAC CACCCGCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00639.hp2 others(56): Show HG00544.hp2 HG00558.hp1 HG00639.hp2 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp2 NA18960.hp1 NA18987.hp2 NA18990.hp2 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071	a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0121 others(56): Show a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0165 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0003g0219 a0001c0001t0009g0090 a0001c0001t0009g0136 a0001c0001t0015g0172 a0001c0001t0016g0193 a0001c0001t0017g0230 a0001c0001t0018g0086 a0001c0001t0018g0187 a0001c0001t0018g0188 a0001c0001t0020g0111 a0001c0001t0020g0112 a0001c0001t0020g0113 a0001c0001t0021g0167 a0001c0001t0024g0148 a0001c0001t0024g0171 a0001c0001t0025g0080 a0001c0001t0025g0175 a0001c0001t0027g0028 a0001c0001t0027g0065 a0001c0001t0028g0032 a0001c0001t0032g0047 a0001c0001t0035g0098 a0001c0001t0036g0096 a0001c0001t0037g0095 a0001c0001t0039g0143 a0001c0001t0042g0138 a0001c0001t0057g0089 a0001c0001t0058g0220 a0001c0001t0060g0059 a0001c0001t0064g0126 a0001c0001t0066g0182 a0001c0001t0069g0221 a0001c0001t0070g0088 a0001c0001t0071g0192	59	280	0.2107	309	c.67- others(324): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATG ATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTT CTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCC CGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCA GGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(302): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAAGAAGCCGTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCCGAATTCAAGCCTTTCTCCTGCCTCAGC CTCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGT TTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTG GAGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0295 a0010c0020t0001g0295	1	377	0.0027	309	c.-18 others(320): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCA GCCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGC TTCTTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAG GGTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(302): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	204	0.0049	309	c.128 others(330): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(302): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp2 HG01496.hp1 others(24): Show HG00609.hp1 HG01192.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG03688.hp2 HG04115.hp1 HG04228.hp2 NA18944.hp2 NA18964.hp1 NA18983.hp1 NA18985.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19074.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0002c0006 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0004t0005 a0001c0004t0025 a0001c0007t0003 a0002c0006t0003 a0002c0006t0024 a0008c0017t0003 a0010c0027t0003	a0001c0001t0001g0013 a0001c0001t0003g0088 a0001c0001t0003g0093 others(24): Show a0001c0001t0001g0013 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0141 a0001c0001t0006g0181 a0001c0001t0016g0054 a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0004t0005g0079 a0001c0004t0005g0123 a0001c0004t0025g0080 a0001c0007t0003g0084 a0001c0007t0003g0098 a0001c0007t0003g0099 a0002c0006t0003g0089 a0002c0006t0003g0090 a0002c0006t0003g0091 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0024g0081 a0008c0017t0003g0101 a0010c0027t0003g0086	27	204	0.1324	309	c.128 others(330): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(302): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0083 a0001c0004t0005g0083	1	204	0.0049	309	c.128 others(330): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACACC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RESF1_chr12_31954415_31998107	31972450	C C	CAAAAAAT others(302): Show CAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCAC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0321 a0016c0019t0001g0321	1	452	0.0022	309	c.-79 others(326): Show c.-79+2104_-79+2105insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAATTAG	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMS1_chr6_71881550_72408145	72043662	T T	TGCTAATG others(302): Show TGCTAATGTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGC AGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp1 HG00738.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0014 a0001c0003t0004 a0001c0003t0014	a0001c0003t0004g0127 a0001c0003t0014g0045 a0001c0003t0004g0127 a0001c0003t0014g0045	2	140	0.0143	309	c.246 others(328): Show c.246-53273_246-53272insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACT GCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGGCTAATGTACTATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(302): Show AATATATATATCTTTAAATATGTATATTTAAATTATATAATTTAAATATA TATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATA TATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAA TATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATA TTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATATTT ATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATAT ATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG00140.hp2 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0021 a0001c0001t0001g0079 a0001c0001t0001g0088	5	408	0.0123	309	c.182 others(326): Show c.182-2708_182-2707insCTTTAAATATGTATATTTAAATTATATA ATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATATAT ATCTTTAAATATATATTTAAAGATATATATTAAATTATATATATTAAAAT ATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAA AGATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATA TATATATATTTATATATATATTTTTATATATATATATTTATATATATATT TTTAAATATATATATATATTTATATATATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(302): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAAATTATATATATTAAAATATGTATATTAA TATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATA TTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATATTT ATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATAT ATATATATTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	408	0.0025	309	c.182 others(326): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAAATTATATATATTAAAATATGTA TATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATA TATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAA ATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF150_chr4_140854807_141138469	141110579	T T	TTTAATTT others(302): Show TTTAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTATAGGCA CGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTTTTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 NA18945.hp2 others(4): Show HG02040.hp1 HG02040.hp2 NA18945.hp2 NA18960.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0062	a0001c0001t0002g0161 a0001c0001t0013g0159 a0001c0001t0017g0155 others(4): Show a0001c0001t0002g0161 a0001c0001t0013g0159 a0001c0001t0017g0155 a0001c0001t0034g0158 a0001c0001t0041g0156 a0001c0001t0043g0162 a0001c0001t0062g0157	7	184	0.0380	309	c.484 others(328): Show c.484+21745_484+21746insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA AAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTATAGTCCCAGC TACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AAACTCCGTCTCAAAAAAAAAAAAAAAAATTAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61897584	T T	TAAGAAAT others(302): Show TAAGAAATACTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0098 a0001c0002t0068g0098	1	310	0.0032	309	c.-49 others(320): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCAGTATTTCTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding		4578		chr18	TogoVar
RNF220_chr1_44400255_44656723	44468135	T T	TAAAAAAA others(302): Show TAAAAAAATGGCACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02886.hp1 others(2): Show HG02145.hp2 HG02572.hp2 HG02886.hp1 HG02896.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0028 a0001c0001t0010g0116 a0001c0002t0002g0029	5	218	0.0229	309	c.625 others(328): Show c.625+55429_625+55430insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATGGCACTGA	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF220_chr1_44400255_44656723	44528615	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTC CAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGTCTCCCAGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCACACGCTGC CACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTG TTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACACACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCCTGCA AATTGGCAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	218	0.0046	309	c.626 others(328): Show c.626-85537_626-85536insGAGACGGAGTCTCACTCTGTCACCCA GGCTGGAGTCCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGTCTCCCA GGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGG CACACGCTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCAC ACACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCC CGGCCCTGCAAATTGGCAACTTTTTTTTTTTTT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(302): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	320	0.0031	309	c.324 others(324): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTATT TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	226	0.0044	309	c.199 others(326): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RUNDC3B_chr7_87623398_87837296	87626252	T T	TATATATT others(302): Show TATATATTGTCATATATATGTGTCATATATGTGTGTCATATATGTGTCAT ATATGTGTGTCATATATGTGTCATATATGTGTGTCATATATGTGTCATAT ATGTGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGT GTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATGTGTCA TATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	202	0.0050	309	c.-25 others(320): Show c.-2572_-2571insATATATTGTCATATATATGTGTCATATATGTGTG TCATATATGTGTCATATATGTGTGTCATATATGTGTCATATATGTGTGTC ATATATGTGTCATATATGTGTGTCATATATGTGTCATATATATGTGTCAT ATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATAT ATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGT GTCATATATGTGTCATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2145		chr7	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(302): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	210	0.0048	309	c.899 others(324): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(302): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19057.hp1 HG03669.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0154 a0001c0001t0001g0103 a0001c0001t0001g0154	2	210	0.0095	309	c.899 others(324): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(302): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCT CTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCCCCTCCCT CCTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCCT TCCTTCCCCCCCTCCTTCCTTCCCCTGCCTCCCTCTTTCCCTCTTCCTCC CTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCC CTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	232	0.0043	309	c.77 others(320): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT CCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCT CCCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCCT TCCCTCCTTCCTCCTTCCTTCCCCCCCTCCTTCCTTCCCCTGCCTCCCTC TTTCCCTCTTCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTC CCTCCTCCCTTCCCCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(302): Show ACCTCAGTGTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0053 a0001c0030t0005g0053	1	100	0.0100	309	c.141 others(330): Show c.14152-1816_14152-1815insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTCAGTGTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(302): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	434	0.0023	309	c.843 others(326): Show c.843-1556_843-1555insGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTCCGTTACAGGTGGGCGGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(302): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAA AACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTT AGACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCAT GGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAG CCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	414	0.0024	309	c.678 others(324): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACC TAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCC TGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(302): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTT AGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCAT GGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAG CCTCCAAGGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	414	0.0024	309	c.678 others(324): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AGAGGAAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAAT AATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACC TAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCC TGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCP2_chr1_52922276_53056698	52923161	T T	TAAAAAAA others(302): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA21309.hp2 HG01884.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0008 a0001c0001t0006 a0001c0004t0008	a0001c0001t0006g0036 a0001c0004t0008g0044 a0001c0001t0006g0036 a0001c0004t0008g0044	2	280	0.0071	309	c.-42 others(320): Show c.-4236_-4235insAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding		4114		chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(302): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0000 a0005c0005t0000	a0005c0005t0000g0000 a0005c0005t0000g0000	1	469	0.0021	309	c.22 others(320): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SEMA6A_chr5_116438555_116579823	116496201	C C	CAAAAACT others(302): Show CAAAAACTTAACCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	304	0.0033	309	c.342 others(322): Show c.342+49_342+50insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTGGGTTAAGTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	5/18			chr5	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(302): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCGG GAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGG AGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01243.hp1 others(11): Show HG00140.hp1 HG00323.hp2 HG01243.hp1 HG01256.hp2 HG02257.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp2 HG03834.hp1 NA19056.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0160 others(11): Show a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0019g0170	14	366	0.0383	309	c.101 others(326): Show c.1015+736_1015+737insCCACCTCCCTCCCGGAAGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(302): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	384	0.0026	309	c.-83 others(318): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(302): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	400	0.0025	309	c.137 others(326): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACT GCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAGT AGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTATT TTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCC TGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGG CGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(302): Show TAGAAAAATTAGACCGGGCGCGGTGTCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG01884.hp2 HG02055.hp2 HG02647.hp2 HG03453.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0004g0021 others(5): Show a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0004g0021 a0001c0001t0004g0037 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0010g0025 a0001c0001t0010g0043	8	400	0.0200	309	c.137 others(326): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACT GCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAGT AGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTATT TTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCC TGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGG CGTGAGACACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SH3BGRL2_chr6_79626329_79708655	79689230	T T	TAAAAATT others(302): Show TAAAAATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 NA18971.hp2 others(1): Show HG01099.hp1 HG01358.hp2 NA18971.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0014g0019 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0014g0019	4	348	0.0115	309	c.232 others(326): Show c.232-7245_232-7244insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAATTTCT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(302): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	242	0.0041	309	c.43 others(320): Show c.4343_*4344insGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCG GGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(302): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0132 a0001c0002t0001g0133	2	292	0.0069	309	c.309 others(328): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(302): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0071 a0002c0023t0002g0071	1	292	0.0034	309	c.309 others(328): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCTGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SKAP1_chr17_48128442_48435214	48427627	T T	TAAAAGCA others(302): Show TAAAAGCACACACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02148.hp1 HG02897.hp1 HG01106.hp2 HG02148.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0232 a0002c0004t0001g0230 a0002c0004t0001g0231 a0001c0005t0001g0232 a0002c0004t0001g0230 a0002c0004t0001g0231	3	292	0.0103	309	c.46+ others(324): Show c.46+2447_46+2448insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGTGTGTGCTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1073202	C C	CATCACAC others(302): Show CATCACACTTATGCAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	309	c.224 others(326): Show c.2241+430_2241+431insACCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCC GTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGG GGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCAC TGGGGGCTCACTGGGGCTGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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Search Results (Total: 10000 hits)