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
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(100): Show AAAAAAAAAAATATATATATATATATATATATATATACACATATATATAT ATATATATATATACACATATATATATATATATATATACACATATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0072 a0003c0004t0001g0072	1	228	0.0044	107	c.22- others(124): Show c.22-13103_22-13102insATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PTPRD_chr9_8309246_10618002	10438013	A A	ATATATAA others(100): Show ATATATAATATATATATATATATATATATATATATATATTATATATATAT TATATATATATATATTAATATATATATATATTATATATATATTATATATA TAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	34	0.0294	107	c.-59 others(128): Show c.-599-96997_-599-96996insATATATTATATATATAATATATAT ATAATATATATATATATTAATATATATATATATAATATATATATAATATA TATATATATATATATATATATATATATTATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(100): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGAGGGGGTGGGGGGAGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGG TGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	400	0.0025	107	c.-34 others(118): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCTCCCCCCACCCCCTCCCCTCCCCCCACCCCCTCCCTTCCCCCCT CCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(100): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG TGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	400	0.0025	107	c.-34 others(118): Show c.-3413_-3412insCTCCCCCACCCCTCCCCCCTCCCCCCACCCCCCT CCCCCCTCCCCCCACCCCCTCCCCTCCCCCCACCCCCTCCCTTCCCCCCT CCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(100): Show CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGACG GGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGAC GGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	342	0.0029	107	c.-57 others(116): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GGGACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGG GGCGGGGGGGGACGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350866	G G	GGGGGGCG others(100): Show GGGGGGCGGTGGGGCGGGGGGCGGTGGGGCGGGGGGCGGTGGGGCGGGGG GCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGACGGGGGG CGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0054 a0001c0002t0008g0054	1	342	0.0029	107	c.-56 others(116): Show c.-564_-563insGGGGGCGGTGGGGCGGGGGGCGGTGGGGCGGGGGGC GGTGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCG GGGGGACGGGGGGCGGGGGAC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		388		chr20	TogoVar
RASA3_chr13_113972783_114137623	114043968	G G	GCCCCCCG others(100): Show GCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCCTCACTCGCT GAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTC GCTGAGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	67	0.0149	107	c.278 others(124): Show c.278-2875_278-2874insGGCTCAGCGAGTGAGGCGGGGCGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGTGGGG GAGCTCAGCGAGTGAGGCGGGGCGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044076	C C	CCCCCGCC others(100): Show CCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCC CCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAG CCCCCCCG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0006 a0003c0008t0002g0006	1	67	0.0149	107	c.278 others(124): Show c.278-2983_278-2982insCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044076	C C	CCCCCGCC others(100): Show CCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCC CCCCGCCCCGCCTCACTCGCTGAGCTCCCCGCCCCGCCTCACTCGCTGAG CCCCCCCG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	67	0.0149	107	c.278 others(124): Show c.278-2983_278-2982insCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62417506	G G	GCCCCCCC others(100): Show GCCCCCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCCGTCCACGC AACGCCCCCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTTCCGTCCA CGCACCAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0001 a0022c0029t0001	a0022c0029t0001g0195 a0022c0029t0001g0195	1	432	0.0023	107	c.105 others(122): Show c.105-294_105-188dupGTGGTGCGTGGACGGAACAGACGTCACAGA GGAGCGTGCAGATGACTGGGGGGGCGTTGCGTGGACGGGACAGACGTCAC AGAGGAGCGTGCAGATGACTGGGGGGG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBCK1_chr20_403299_437139	407982	C C	CCGCCCAC others(100): Show CCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCGGCCCCGCCCACCC CGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCG GCCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	452	0.0022	107	c.-77 others(116): Show c.-776_-775insCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCG GCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCC ACCCCGCCTCGCGGCCCCCGG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		316		chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(100): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	166	0.0060	107	c.908 others(124): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RFC1_chr4_39282456_39371362	39348432	A A	AAGAAAAG others(100): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	276	0.0036	107	c.132 others(124): Show c.132+2915_132+2916insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348437	A A	AAGAAAAG others(100): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	276	0.0036	107	c.132 others(124): Show c.132+2910_132+2911insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(100): Show CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTCTCTCTTTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	388	0.0026	107	c.207 others(122): Show c.207+489_207+490insTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296147	T T	TTTCTTTC others(100): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTC TCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0122 a0001c0001t0013g0122	1	388	0.0026	107	c.207 others(122): Show c.207+512_207+513insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTCTTTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296152	T T	TCTTTCTT others(100): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTC TCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0248 a0001c0001t0013g0248	1	388	0.0026	107	c.207 others(122): Show c.207+516_207+517insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCTTTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TCTTTCTT others(100): Show TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0232 a0001c0002t0004g0232	1	388	0.0026	107	c.207 others(122): Show c.207+526_207+527insCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT TTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(100): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTC TCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	388	0.0026	107	c.207 others(122): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(100): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0033 a0005c0006t0004g0033	1	40	0.0250	107	c.127 others(124): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3309222	G G	GGAGGAGC others(100): Show GGAGGAGCTGGGACCCAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGT GGGGGAGGAGCTGGGACCCTGGAAATGGCAGGTGTCCTCTGAGGAGAGCT GAGCAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0001 a0004c0038t0001	a0004c0038t0001g0146 a0004c0038t0001g0146	1	312	0.0032	107	c.-10 others(126): Show c.-101-6835_-101-6834insCCAGGAATGGCAGGTGTCCGCTGAGG GGAACCGTGTGGGGGAGGAGCTGGGACCCTGGAAATGGCAGGTGTCCTCT GAGGAGAGCTGAGCAGGAGAGGAGCTGGGAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309237	C C	CAGGAATG others(100): Show CAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGG ACCCGGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGC TGGGGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp2 HG02280.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0143 a0001c0002t0001g0144	2	312	0.0064	107	c.-10 others(126): Show c.-101-6833_-101-6832insAGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGA GGAGAGCTGAGCAGGAGAGGAGCTGGGGCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309275	G G	GGAGGAGC others(100): Show GGAGGAGCTGGGACCCAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGT GGGGGAGGAGCTGGGACCCTGGAAATGGCAGGTGTCCTCTGAGGAGAGCT GAGCAGGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0015 a0004c0008t0001g0015	1	312	0.0032	107	c.-10 others(126): Show c.-101-6782_-101-6781insCCAGGAATGGCAGGTGTCCGCTGAGG GGAACCGTGTGGGGGAGGAGCTGGGACCCTGGAAATGGCAGGTGTCCTCT GAGGAGAGCTGAGCAGGAGAGGAGCTGGGAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309977	C C	CTGGAATG others(100): Show CTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGG ACCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCT GGGACCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG00140.hp1 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0032 a0001c0007t0001g0033 a0001c0007t0001g0032 a0001c0007t0001g0033	2	312	0.0064	107	c.-10 others(126): Show c.-101-6093_-101-6092insTGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCAGGGGAGGAGCTGGGACCCGGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGTGGGGGAGGAGCTGGGACCCG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309995	G G	GCTGAGGG others(100): Show GCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCGGGAATGACAGGTG TCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCA GGTGTCCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18959.hp1 NA18994.hp1 NA18945.hp1 NA18959.hp1 NA18994.hp1	a0007 a0007	a0007c0024 a0007c0025 a0007c0024 a0007c0025	a0007c0024t0001 a0007c0025t0001 a0007c0024t0001 a0007c0025t0001	a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0280 a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0280	3	312	0.0096	107	c.-10 others(126): Show c.-101-6060_-101-6059insCAGGGGAGGAGCTGGGACCCGGGAAT GACAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGG AAATGGCAGGTGTCCTCTGAGGGGAACCGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426074	C C	CGGGGGCC others(100): Show CGGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGG CGAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGG GGGCGAGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0094 a0006c0015t0002g0094	1	312	0.0032	107	c.333 others(124): Show c.3331+518_3331+519insGCCAGTGCAGGGGAGGGGGCTGTGGGGT TGGCATAGGGGAGGGGGCGAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGG GGTTGGCATAGGGGAGGGGGCGAGTGGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3440813	C C	CCCCCATT others(100): Show CCCCCATTCATCGTGCCCCCAGGGCCCACCATGACCTCCCCCCCAACCCC CAACCCCCCATTCACCGTGCCCCAGGGCCCACCATGACCTCCCCCCCAAC CCCCAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00733.hp1 others(8): Show HG00099.hp1 HG00140.hp1 HG00733.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG02683.hp2 HG03710.hp1 HG06807.hp1 NA20805.hp2	a0001 a0006 a0019 a0001 a0006 a0019	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0006c0015 a0019c0044	a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0006c0015t0002 a0019c0044t0001	a0001c0002t0001g0193 a0001c0003t0001g0306 a0001c0007t0001g0032 others(8): Show a0001c0002t0001g0193 a0001c0003t0001g0306 a0001c0007t0001g0032 a0001c0007t0001g0033 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0006c0015t0002g0096 a0006c0015t0002g0098 a0019c0044t0001g0189	11	312	0.0353	107	c.11 others(118): Show c.1129_*1130insCCCCATTCATCGTGCCCCCAGGGCCCACCATGAC CTCCCCCCCAACCCCCAACCCCCCATTCACCGTGCCCCAGGGCCCACCAT GACCTCCCCCCCAACCCCCAACT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		901		chr4	TogoVar
RGSL1_chr1_182445146_182565597	182533300	T T	TTTTTTTT others(100): Show TTTTTTTTTTTTTTTTGTTCAACAATGTATCTTGGACATCATTTTATGTC AGTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGTCCATTATA TGGATTAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0295 a0003c0003t0001g0295	1	338	0.0030	107	c.249 others(124): Show c.2494+522_2494+523insTTGTTCAACAATGTATCTTGGACATCAT TTTATGTCAGTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGT CCATTATATGGATTAATTTTTTTTTTTTT	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(100): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTT TTCTTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0036 a0002c0026t0001g0036	1	280	0.0036	107	c.3+2 others(122): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGGAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GGGGGTGA others(100): Show GGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGT GAGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02572.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02572.hp2 NA19240.hp1	a0015 a0018 a0098 others(1): Show a0015 a0018 a0098 a0101	a0015c0018 a0018c0108 a0098c0109 others(1): Show a0015c0018 a0018c0108 a0098c0109 a0101c0111	a0015c0018t0022 a0018c0108t0006 a0098c0109t0064 others(1): Show a0015c0018t0022 a0018c0108t0006 a0098c0109t0064 a0101c0111t0027	a0015c0018t0022g0085 a0018c0108t0006g0083 a0098c0109t0064g0084 others(1): Show a0015c0018t0022g0085 a0018c0108t0006g0083 a0098c0109t0064g0084 a0101c0111t0027g0082	4	292	0.0137	107	c.261 others(124): Show c.261+1330_261+1331insAGTGGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGTGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355708	A A	ATGGAGGA others(100): Show ATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGACCGGG AATGGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0012 a0020c0031t0012	a0020c0031t0012g0026 a0020c0031t0012g0026	1	292	0.0034	107	c.108 others(128): Show c.10862+1132_10862+1133insTGGAGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CGGAGGAAGAAGCGGGGTGACCGGGAATGGGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF223_chr1_1065967_1079306	1078139	G G	GCCGGAGG others(100): Show GCCGGAGGCTGAGGCTATGGGACTCCGTGGGGAGGCTGAGGCTATGGGAC TCCGTGGGGAGGCTGAGCTATGGGACTCCGTGGGGAGGCTGAGGCTATGG GACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	324	0.0031	107	c.-41 others(118): Show c.-4134_-4133insACGGAGTCCCATAGCCTCAGCCTCCCCACGGAGT CCCATAGCTCAGCCTCCCCACGGAGTCCCATAGCCTCAGCCTCCCCACGG AGTCCCATAGCCTCAGCCTCCGG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3834		chr1	TogoVar
RPH3AL_chr17_207389_357807	340814	C C	CTCCCCAC others(100): Show CTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCACA CTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCCCA CCCAGGCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	107	c.-21 others(126): Show c.-212-6881_-212-6880insAGCCTGGGTGGGGGACAGTGAGTGTG GATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTCGGGGCAGTGAGATTGGATGTGGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(100): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	366	0.0027	107	c.-15 others(118): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RUNDC3B_chr7_87623398_87837296	87626368	G G	GTGTCATA others(100): Show GTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGT GTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGT CATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0034 a0001c0001t0020g0034	1	202	0.0050	107	c.-24 others(118): Show c.-2456_-2455insTGTCATATATATGTCATATATATGTGTCATATAT ATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATAT GTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2029		chr7	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(100): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCT CTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	232	0.0043	107	c.77 others(118): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT CCCTTCCCCCTCCCTCTTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
RYR2_chr1_237037184_237838988	237390178	T T	TGAGATGC others(100): Show TGAGATGCAATCTAGAAACAAAATCTAGAACAGAAAATACTCTCCACATA AAATATGTCAGGCTTGAAATAAAATTTAGTAGTCAAATGTCAAGCCTCCA GAATGAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp1 HG03471.hp2 others(1): Show HG02572.hp2 HG03471.hp1 HG03471.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0035	a0001c0001t0004 a0001c0002t0031 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0002t0031 a0001c0003t0002 a0002c0035t0021	a0001c0001t0004g0036 a0001c0002t0031g0033 a0001c0003t0002g0065 others(1): Show a0001c0001t0004g0036 a0001c0002t0031g0033 a0001c0003t0002g0065 a0002c0035t0021g0010	4	100	0.0400	107	c.773 others(124): Show c.773+1996_773+1997insAGATGCAATCTAGAAACAAAATCTAGAA CAGAAAATACTCTCCACATAAAATATGTCAGGCTTGAAATAAAATTTAGT AGTCAAATGTCAAGCCTCCAGAATGAAAG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CTCTCTCC others(100): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCC CTCATCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0003 a0003c0003t0004g0003	1	262	0.0038	107	c.249 others(126): Show c.2495+1508_2495+1509insAGGATGAGGGGAGAGGGAGGGTAAGG GGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGG AGAGGGAGGGTAAGGGAGAGGGAAGGAGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(100): Show CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	332	0.0030	107	c.852 others(124): Show c.852+1461_852+1462insCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(100): Show CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	332	0.0030	107	c.852 others(124): Show c.852+1461_852+1462insCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460822	T T	TTCCTTCC others(100): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02723.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0061 a0001c0001t0010g0005 a0001c0001t0010g0061	2	332	0.0060	107	c.852 others(124): Show c.852+1461_852+1462insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C2_chr17_132569_144067	139459	G G	GCCACACA others(100): Show GCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGT GCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAG GGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	107	c.51 others(116): Show c.517_*518insCCACACACACAGACCCACATACAGAGGATCCCACTC AAGGAGCACACGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGAC ATCAGGAACACAGGGCCACAT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		393		chr17	TogoVar
SCGB1C2_chr17_132569_144067	139506	C C	CGTGCGAA others(100): Show CGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCTACATACAGAGGATCCCACTCAAG AAGCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	402	0.0025	107	c.56 others(116): Show c.564_*565insGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGG GACATCAGGAACACAGGGCCACAGCCACACACACAGACCTACATACAGAG GATCCCACTCAAGAAGCACAA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		440		chr17	TogoVar
SEMA3E_chr7_83358238_83654139	83389958	A A	ACATATAT others(100): Show ACATATATACACGTATATATTACATGTATACATATATACACGTATATGTG TATAGTGTATACGTATACACATATATACGCGTATATATGTGTATACGTAT ACACATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	226	0.0044	107	c.166 others(126): Show c.1667+2596_1667+2597insATATGTGTATACGTATACACATATAT ACGCGTATATATGTGTATACGTATACACTATACACATATACGTGTATATA TGTATACATGTAATATATACGTGTATATATG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169637	A A	ATATAATG others(100): Show ATATAATGTATATTATATAATATATTGTATATTATATAATATATTGTATA TTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATATTATA TAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0340 a0001c0002t0003g0340	1	366	0.0027	107	c.-15 others(118): Show c.-1500_-1499insATATATTATATAATATACAATATACAATATATTA TACAATATACAATATATTATACAATATACAATATATTATATAATATACAA TATATTATATAATATACATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1376		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169637	A A	ATATAATG others(100): Show ATATAATGTATATTATATAATATATTGTATATTATATAATGTATATTATA TAATATATTGTATATTATATAATATATTGTATATTGTATAATATATTGTA TATTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0322 a0001c0002t0003g0322	1	366	0.0027	107	c.-15 others(118): Show c.-1500_-1499insATACAATATACAATATATTATACAATATACAATA TATTATATAATATACAATATATTATATAATATACATTATATAATATACAA TATATTATATAATATACATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1376		chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(100): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT CAGTGTGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0112 a0001c0002t0016g0112	1	316	0.0032	107	c.257 others(126): Show c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT GACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACC TGTAATGCTTGTAACCCTGACCCCTTCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHROOM4_chrX_50581796_50819194	50795094	T T	TATATGAT others(100): Show TATATGATATATATATCATATATGAGATATATATATGATATATATATCAT ATATGATATATATATGATATATATATCATATATGATATATATATCATATA TATATATC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0172 a0005c0005t0003g0172	1	175	0.0057	107	c.117 others(126): Show c.117+18807_117+18808insGATATATATATATGATATATATATCA TATATGATATATATATCATATATATATCATATATGATATATATATCATAT ATATATCTCATATATGATATATATATCATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	401460	C C	CCCCGCTC others(100): Show CCCCGCTCACACCCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCGGCCCCCGCTCACACCCGCCCCGCTCACACCCCGCCCCGCT CACCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	242	0.0041	107	c.44 others(118): Show c.4435_*4436insCCGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCGG GTGTGAGCGGGGGCCGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTG AGCGGGGCCGGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4255		chr11	TogoVar
SIK3_chr11_116838402_117103428	116947223	A A	AATATATA others(100): Show AATATATAAATTATTATTTATATATAATATATTATATATAAATTATTATT TATATATAATATATAATATATAAATTATTATTTATATATAATATATTATA TACAAATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	366	0.0027	107	c.454 others(124): Show c.454+6820_454+6821insAATTTGTATATAATATATTATATATAAA TAATAATTTATATATTATATATTATATATAAATAATAATTTATATATAAT ATATTATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar

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Search Results (Total: 10000 hits)