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
PNPLA7_chr9_137454952_137555402	137518298	G G	GACTCCAC others(200): Show GACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCA CTCCATCCCCCACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCA CTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCC ACTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCACTC ACGCACTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp1 HG03017.hp2 others(2): Show HG01261.hp1 HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0039 a0001c0002 a0001c0012 a0001c0039	a0001c0002t0001 a0001c0012t0001 a0001c0039t0001 a0001c0002t0001 a0001c0012t0001 a0001c0039t0001	a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0012t0001g0008 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0012t0001g0008 a0001c0012t0001g0037 a0001c0039t0001g0007	5	188	0.0266	207	c.108 others(226): Show c.1084+1618_1084+1619insGAGTGCGTGAGTGGGGGATGGAGTGG ACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGT GACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG GACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAG TGAGTGGGGGATGGAGTGGACAGAGTGGAGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	G G	GGAACATC others(200): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACAT GACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGA AATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAG GAGTCAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01192.hp1 others(77): Show HG00408.hp1 HG00544.hp2 HG01192.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(33): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0065 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(75): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0135 a0001c0001t0006g0202 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0037g0099 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0065g0092 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0090g0106 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0106g0087 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255	80	394	0.2031	207	c.108 others(226): Show c.1082+2085_1082+2291dupTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGA CCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAA TGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGA GTCAGAGAACATCTAGAAATGACAAGTATGA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952587	C C	CGGGGGGT others(200): Show CGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGGTTCATTGTCTTA GTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGT GCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGGTTCATT GTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGC GGGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0258 a0001c0001t0081g0258	1	394	0.0025	207	c.108 others(226): Show c.1083-3085_1083-3084insAGTGACTTGCGGGTGTGCGGGGGGGT TCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGA CTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCT TAGTGACTTGCGGGTGTGTGGGGGGTTCACT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(200): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0244 a0001c0002t0032g0244	1	344	0.0029	207	c.231 others(222): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTG CGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGG AGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(200): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCC TCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCC GCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02615.hp2 others(3): Show HG02451.hp2 HG02559.hp1 HG02615.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0003 a0001c0002t0012 a0003c0008t0003 a0001c0002t0003 a0001c0002t0012 a0003c0008t0003	a0001c0002t0003g0219 a0001c0002t0003g0231 a0001c0002t0003g0243 others(3): Show a0001c0002t0003g0219 a0001c0002t0003g0231 a0001c0002t0003g0243 a0001c0002t0003g0251 a0001c0002t0012g0230 a0003c0008t0003g0229	6	344	0.0174	207	c.231 others(222): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTG CGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGG AGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(200): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATAATACATTATATTTTATATAATATAGATAATACATTATATATATT ATATAATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02615.hp1 HG04115.hp2 others(2): Show HG00408.hp2 HG02615.hp1 HG04115.hp2 NA18951.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0060 others(2): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0060 a0001c0001t0067 a0001c0001t0068	a0001c0001t0006g0051 a0001c0001t0017g0169 a0001c0001t0060g0007 others(2): Show a0001c0001t0006g0051 a0001c0001t0017g0169 a0001c0001t0060g0007 a0001c0001t0067g0140 a0001c0001t0068g0139	5	220	0.0227	207	c.24+ others(224): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATAATACATTATATTTTATATAATATAGATAATACATTATATATATT ATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(200): Show TATATATAATACATAATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATAATACATTATATTTTATATAATATAGATAATACATTATATATATT ATATAATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00639.hp2 others(20): Show HG00544.hp2 HG00597.hp2 HG00639.hp2 HG01109.hp2 HG01258.hp1 HG01891.hp2 HG01978.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 NA18906.hp2 NA18972.hp1 NA18978.hp2 NA19010.hp2 NA19012.hp1 NA19058.hp2 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0034 a0001c0001t0041 a0001c0001t0047 a0001c0001t0050 a0001c0001t0073 a0001c0001t0074 a0001c0001t0081 a0001c0001t0082	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0003g0057 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0014g0056 a0001c0001t0014g0168 a0001c0001t0020g0021 a0001c0001t0026g0158 a0001c0001t0034g0104 a0001c0001t0041g0105 a0001c0001t0047g0011 a0001c0001t0050g0062 a0001c0001t0073g0055 a0001c0001t0074g0054 a0001c0001t0081g0103 a0001c0001t0082g0106	23	220	0.1046	207	c.24+ others(224): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATAATACATTATATTTTATATAATATAGATAATACATTATATATATT ATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597117	A A	ATACATAA others(200): Show ATACATAATATATATTATATAATATATATAATACATTATATATATTATAT AATATATATAATACATTATATATATTATATAATATATATAATACATTATA TATATTATATAATATATATAATACATTATATATATTATATAATATATAAT ACATTATATTTTATATAATATAGATAATACATTATATATATTATATAATA ATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18950.hp2 HG02922.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0049 a0001c0001t0037 a0001c0001t0049	a0001c0001t0037g0159 a0001c0001t0049g0209 a0001c0001t0037g0159 a0001c0001t0049g0209	2	220	0.0091	207	c.24+ others(224): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATAATACATTATATTTTATATAATATAGATAATACATTATATATATT ATATAATAATATATACTACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(200): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCATCCCCA CCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATC CCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCACCAGGCCCAC CAGGCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCATCC CCACCAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	330	0.0030	207	c.397 others(220): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGGATGG TGGGCCTGGTGGGCCTGGTGGGCCTGGTGGGCCTGGTGAGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGT GGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(200): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCAC CAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCC CCACCAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	330	0.0030	207	c.397 others(220): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RASA3_chr13_113972783_114137623	114119840	T T	TCTCTCCA others(200): Show TCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCC CTCCTCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCCTCTCTCCAGCCA GGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCC CCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	207	c.55+ others(224): Show c.55+12594_55+12595insGGGAGGGGGGCCCTGATCGACGCCTGGC TGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGG CCCTGACCGACGTCTGGCTGGAGAGAGGAGGGGGGGCCCTGATCGACGCC TGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGA GGGGCCCTGACCGACGTCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCATCCC others(200): Show CCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCC GTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCAT CCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCC ATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTCCCCCA TCCCCCGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	452	0.0022	207	c.757 others(222): Show c.757-198_757-197insATCCCCCGTCCCCATCCCCCATCCCCCGTC CCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCC CGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTC CCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTC CTGTCCCCCGTCCCCCATCCCCCGTCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6637263	A A	AATATATA others(200): Show AATATATATTGTATATTATATATATTATATAATATACAATATATATTTTA TATAATATATAATATACAATATATATTGTATATTATATATATATAATATA CAATATATATTGTATATTATATATATTATATAATATACTATATATTGTAT ATTATATATATTATATAATATACAATATATATTGTATATTATATATTATA TAATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	207	c.-63 others(226): Show c.-63-17339_-63-17338insTATATATTGTATATTATATATATTAT ATAATATACAATATATATTTTATATAATATATAATATACAATATATATTG TATATTATATATATATAATATACAATATATATTGTATATTATATATATTA TATAATATACTATATATTGTATATTATATATATTATATAATATACAATAT ATATTGTATATTATATATTATATAATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFX3_chr9_3213297_3531001	3505389	A A	AATATAAA others(200): Show AATATAAAATAAAATACTTTATATTTATATAAAATATAAAATAAAATACT TTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAA ATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATA TAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATATTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	196	0.0051	207	c.-9+ others(224): Show c.-9+20357_-9+20358insCAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTT ATATAAATATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505389	A A	AATATAAA others(200): Show AATATAAAATAAAATACTTTATATTTATATAAAATATAAAATAAAATACT TTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAA ATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATA TAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01257.hp2 HG02280.hp2 others(5): Show HG00639.hp1 HG01257.hp2 HG02280.hp2 HG02486.hp1 HG02630.hp1 HG03139.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0022 a0001c0001t0041	a0001c0001t0001g0156 a0001c0001t0003g0058 a0001c0001t0005g0153 others(5): Show a0001c0001t0001g0156 a0001c0001t0003g0058 a0001c0001t0005g0153 a0001c0001t0006g0157 a0001c0001t0020g0050 a0001c0001t0020g0051 a0001c0001t0022g0062 a0001c0001t0041g0057	8	196	0.0408	207	c.-9+ others(224): Show c.-9+20357_-9+20358insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTT ATATAAATATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(200): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	280	0.0036	207	c.3+2 others(222): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505257	G G	GCCCTCTC others(200): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0110 a0001c0001t0093g0110	1	396	0.0025	207	c.-76 others(216): Show c.-768_-767insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		279		chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATAT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02523.hp1 others(4): Show HG00544.hp1 HG01884.hp2 HG02523.hp1 NA19003.hp1 NA19060.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	432	0.0162	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG03704.hp1 NA18981.hp1 others(1): Show HG01257.hp2 HG03704.hp1 NA18981.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	432	0.0093	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA19083.hp1 NA18982.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0015 a0001c0001 a0004c0015	a0001c0001t0001 a0004c0015t0001 a0001c0001t0001 a0004c0015t0001	a0001c0001t0001g0000 a0004c0015t0001g0000 a0001c0001t0001g0000 a0004c0015t0001g0000	2	432	0.0046	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATATTAT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19070.hp1 NA18975.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATAATATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATTAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATAATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	426	0.0024	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA19054.hp2 HG00408.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0001g0255 a0001c0001t0001g0272	2	426	0.0047	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	426	0.0024	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA19086.hp1 NA18989.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0286 a0001c0001t0001g0262 a0001c0001t0001g0286	2	426	0.0047	207	c.22 others(218): Show c.2256_*2257insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RPA2_chr1_27886524_27919575	27916990	T T	TCCTTCCT others(200): Show TCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCT CCCTCCCTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTT CCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	364	0.0028	207	c.-25 others(218): Show c.-2548_-2547insGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGAAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2416		chr1	TogoVar
RPH3AL_chr17_207389_357807	303554	G G	GAGGCTGT others(200): Show GAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGG AAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGA GCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTG AGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGG AGGGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0019 a0001c0003t0018g0019	1	133	0.0075	207	c.351 others(226): Show c.351+15865_351+15866insTCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACC TCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303610	A A	ATGGGGAG others(200): Show ATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	133	0.0075	207	c.351 others(226): Show c.351+15809_351+15810insCCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303761	G G	GAGGCTGT others(200): Show GAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGG AAAGAGATGGGGAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGA GCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTG AGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGG AGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	133	0.0075	207	c.351 others(226): Show c.351+15658_351+15659insTCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACC TCAGTACAGCCTTCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304067	A A	AGCAGTGA others(200): Show AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	207	c.351 others(226): Show c.351+15352_351+15353insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCACCTCTTTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0088 a0001c0002t0039g0088	1	196	0.0051	207	c.393 others(224): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0092 a0001c0024t0037g0092	1	196	0.0051	207	c.393 others(224): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963610	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0139 a0001c0015t0008g0139	1	196	0.0051	207	c.393 others(224): Show c.3939+575_3939+576insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG00735.hp2 HG01516.hp1	a0001 a0001	a0001c0030 a0001c0093 a0001c0030 a0001c0093	a0001c0030t0003 a0001c0093t0070 a0001c0030t0003 a0001c0093t0070	a0001c0030t0003g0117 a0001c0093t0070g0155 a0001c0030t0003g0117 a0001c0093t0070g0155	2	196	0.0102	207	c.393 others(224): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0069 a0001c0007t0069	a0001c0007t0069g0128 a0001c0007t0069g0128	1	196	0.0051	207	c.394 others(224): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCGCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCGCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0151 a0001c0005t0026g0151	1	196	0.0051	207	c.394 others(224): Show c.3940-602_3940-601insGCCCTCACCCCGTCCGCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCGCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0032 a0001c0014t0002g0033	2	196	0.0102	207	c.393 others(224): Show c.3939+598_3939+599insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	196	0.0051	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG00323.hp2 HG00741.hp2	a0001 a0001	a0001c0014 a0001c0017 a0001c0014 a0001c0017	a0001c0014t0002 a0001c0017t0005 a0001c0014t0002 a0001c0017t0005	a0001c0014t0002g0055 a0001c0017t0005g0067 a0001c0014t0002g0055 a0001c0017t0005g0067	2	196	0.0102	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(200): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCGGGGGGGG CGCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0234 a0001c0008t0011g0234	1	392	0.0026	207	c.-22 others(216): Show c.-223_-222insGGCCCGCGCCCCCCCCGCCCCCGCCCGGGCCCGCGC CCGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCG GCCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCG CGCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGC GCTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(200): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCG GCCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAG CGCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTGGGGGG CGCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0070 a0001c0001t0009g0070	1	392	0.0026	207	c.-22 others(216): Show c.-223_-222insGGCCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGC GCTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
SARDH_chr9_133658560_133743352	133668929	T T	TCCCTTAC others(200): Show TCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTC CCTCACCCTCCCTCTCCCCCTTACCCTCCCTCCTCCCCTCATCCTCCCTC ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTAC CCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACC TCCCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0003 a0003c0058t0003	a0003c0058t0003g0161 a0003c0058t0003g0161	1	262	0.0038	207	c.249 others(226): Show c.2495+1654_2495+1655insGAGAGGGAGGTGAGGGAGAGGGAGGG TAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAG GAGGGAGGGTAAGGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(200): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGAGAAGGAG GAGGAGGAGAAGGAGGAGGAGGAAGAGGAGGAGGAGGGGAAGGAAGAGGA GGGGAAGGAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGGAGGAGGGGA AGGAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0003 a0010c0033t0003	a0010c0033t0003g0305 a0010c0033t0003g0305	1	314	0.0032	207	c.916 others(224): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTCCT TCCCCTCCTCCTCCTTCCCCTCCTCCTCCTTCCCCTCCTCCTCCTTCCCC TCCTCCTCCTTCTCCTCCTCCTCCTTCCCCTCCTCTTCCTTCCCCTCCTC CTCCTCTTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCT TCCCCTCCTCCTCCTTCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(200): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAGTGCAG TGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACA GTGCAGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	386	0.0026	207	c.21+ others(222): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTTATACTGCACTGTTT ACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCA CTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTAC ACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288822	T T	TCTGCTCC others(200): Show TCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	207	c.166 others(224): Show c.1662+797_1662+798insCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCC TGCCCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(200): Show TATTACATGTATACATATATACACGTATATATTACATGTATACATATATA CACGTATATATTACATGTATACATATATACACGTATATATTACATGTATA CATATATACACGTATATATTACATGTATACATATATACACGTATATATTA CATGTATACATATATACACGTATATGTGTATAGTGTATACGTATACACAT ATATACGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0184 a0001c0003t0033g0184	1	226	0.0044	207	c.166 others(226): Show c.1667+2603_1667+2604insGCGTATATATGTGTATACGTATACAC TATACACATATACGTGTATATATGTATACATGTAATATATACGTGTATAT ATGTATACATGTAATATATACGTGTATATATGTATACATGTAATATATAC GTGTATATATGTATACATGTAATATATACGTGTATATATGTATACATGTA ATATATACGTGTATATATGTATACATGTAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(200): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	376	0.0027	207	c.101 others(226): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(200): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGCATAGGG TGCATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0273	1	376	0.0027	207	c.101 others(224): Show c.1014-947_1014-946insTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGCATAGGGTGCATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGACAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)