Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	272	0.0037	44	c.501 others(61): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATATATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19005.hp2 NA19091.hp1 HG02698.hp1 NA19005.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0042 a0001c0001t0001g0299 a0001c0001t0001g0300	3	330	0.0091	44	c.472 others(59): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(37): Show CCTTTCCTTTCCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0016t0031g0010 a0001c0016t0031g0011	2	196	0.0102	44	c.348 others(63): Show c.348+21714_348+21715insTTTCCTTTCCTTTCCTGTCCTTTCCT TTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(37): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0009 a0001c0005t0075g0009	1	196	0.0051	44	c.348 others(63): Show c.348+21714_348+21715insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	372	0.0027	44	c.445 others(61): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0242 a0001c0001t0009g0242	1	352	0.0028	44	c.290 others(63): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSPO4_chr20_953452_1007311	959082	C C	CGAGTGTG others(37): Show CGAGTGTGGTGGTGGGTGTGGGGGAGTGTGGTGGTGGGTGTGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0052 a0001c0001t0041 a0001c0001t0052	a0001c0001t0041g0293 a0001c0001t0052g0238 a0001c0001t0041g0293 a0001c0001t0052g0238	2	376	0.0053	44	c.12 others(55): Show c.1231_*1274dupCCCCACACCCACCACCACACTCCCCCACACCCAC CACCACACTC	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5	1274		chr20	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0172 a0001c0001t0011g0172	1	276	0.0036	44	c.321 others(59): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATGT others(37): Show TTATATGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0023 a0001c0001t0021g0023	1	276	0.0036	44	c.321 others(59): Show c.321-505_321-504insGTATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG02280.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0218 a0001c0001t0002g0007 a0001c0001t0002g0027 others(1): Show a0001c0001t0001g0218 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0030	4	276	0.0145	44	c.321 others(59): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG03831.hp1 others(2): Show HG01123.hp2 HG01258.hp2 HG03831.hp1 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0244 a0001c0001t0002g0103 a0001c0001t0002g0235 others(2): Show a0001c0001t0001g0244 a0001c0001t0002g0103 a0001c0001t0002g0235 a0001c0001t0007g0194 a0001c0001t0011g0183	5	276	0.0181	44	c.652 others(63): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp2 HG01433.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0079 a0001c0001t0001g0100	2	172	0.0116	44	c.197 others(61): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626511	T T	TATATATG others(37): Show TATATATGTCATATATGTGTCATATATATGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0170 a0001c0001t0017g0170	1	202	0.0050	44	c.-23 others(55): Show c.-2313_-2312insATATATGTCATATATGTGTCATATATATGTCATA TATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1886		chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92034755	T T	TACACACA others(37): Show TACACACATATACATATATATACACATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0049 a0001c0001t0061g0049	1	132	0.0076	44	c.89- others(61): Show c.89-17436_89-17393dupGTATATATGTATATATATATGTGTATAT ATATGTATATGTGTGT	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34849271	A A	ATATATAT others(37): Show ATATATATATAATATATATTATATATATTTTTATATATAAAAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(33): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp1 NA18747.hp1 NA18957.hp1 NA18957.hp2 NA18983.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0002t0003 a0001c0002t0006 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0106 a0001c0001t0002g0156 a0001c0001t0012g0085 a0001c0001t0017g0092 a0001c0001t0020g0068 a0001c0002t0003g0145 a0001c0002t0006g0101 a0003c0004t0001g0164	36	170	0.2118	44	c.613 others(63): Show c.613+10202_613+10203insATTTTTTATATATAAAAATATATATA ATATATATTATATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RXFP1_chr4_158516882_158658372	158626120	A A	ATAGATAG others(37): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	210	0.0048	44	c.756 others(59): Show c.756-657_756-656insTTAGATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR2_chr1_237037184_237838988	237406210	T T	TTCCCCTC others(37): Show TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	100	0.0100	44	c.774 others(63): Show c.774-10820_774-10819insTTCCCCTCCCCTCCCCTCCTTTCCCT CCCCTCCCCTCCCCTCCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	100	0.0100	44	c.774 others(61): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(37): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0011 a0004c0034t0011	a0004c0034t0011g0043 a0004c0034t0011g0043	1	100	0.0100	44	c.102 others(65): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATAGATAGATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0002 a0001c0120t0002	a0001c0120t0002g0121 a0001c0120t0002g0121	1	154	0.0065	44	c.51+ others(61): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794348	A A	ACATATAT others(37): Show ACATATATTATATATATAACATATATAACATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp2 HG03516.hp2 HG02896.hp1 HG03486.hp2 HG03516.hp2	a0009 a0025 a0039 a0009 a0025 a0039	a0009c0086 a0025c0024 a0039c0064 a0009c0086 a0025c0024 a0039c0064	a0009c0086t0002 a0025c0024t0001 a0039c0064t0003 a0009c0086t0002 a0025c0024t0001 a0039c0064t0003	a0009c0086t0002g0110 a0025c0024t0001g0109 a0039c0064t0003g0052 a0009c0086t0002g0110 a0025c0024t0001g0109 a0039c0064t0003g0052	3	154	0.0195	44	c.983 others(63): Show c.9830+5890_9830+5891insCATATATTATATATATAACATATATA ACATATATATATGTGTAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
SAMD11_chr1_918923_949574	936303	G G	GGGGGGTC others(37): Show GGGGGGTCCCCGGTCGGTCCCGCCTCCTAGGGCTCCTGGACGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0221 a0003c0006t0003g0221	1	434	0.0023	44	c.967 others(59): Show c.967+411_967+412insGTCCCCGGTCGGTCCCGCCTCCTAGGGCTC CTGGACGGAAGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50129033	C C	CAGATGGG others(37): Show CAGATGGGTTGGTTTTCTAGGGTTTGGGGGTGTGTTGTTTGGAGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	398	0.0025	44	c.-13 others(59): Show c.-13+483_-13+484insCCTCCAAACAACACACCCCCAAACCCTAGA AAACCAACCCATCT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	1/9			chr17	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(37): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01943.hp2 HG02074.hp1 others(9): Show HG00609.hp2 HG01943.hp2 HG02074.hp1 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18971.hp1 NA18989.hp2 NA18998.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0048 a0001c0001t0009 a0001c0001t0048	a0001c0001t0009g0135 a0001c0001t0009g0136 a0001c0001t0009g0203 others(9): Show a0001c0001t0009g0135 a0001c0001t0009g0136 a0001c0001t0009g0203 a0001c0001t0009g0210 a0001c0001t0009g0212 a0001c0001t0009g0242 a0001c0001t0009g0294 a0001c0001t0009g0303 a0001c0001t0009g0319 a0001c0001t0009g0328 a0001c0001t0009g0333 a0001c0001t0048g0147	12	340	0.0353	44	c.25 others(55): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03579.hp1 HG02647.hp2 HG02896.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0074 a0001c0001t0039 a0001c0001t0074	a0001c0001t0039g0272 a0001c0001t0039g0273 a0001c0001t0074g0220 a0001c0001t0039g0272 a0001c0001t0039g0273 a0001c0001t0074g0220	3	340	0.0088	44	c.25 others(55): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP130_chr2_127936222_128033059	128031430	C C	CCCATTCA others(37): Show CCCATTCAGACCATCTGGTACCCTGGACAACGGTCAGGAATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	350	0.0029	44	c.-34 others(55): Show c.-3498_-3497insATGGATTCCTGACCGTTGTCCAGGGTACCAGATG GTCTGAATGG	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding		3372		chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02559.hp2 HG03139.hp1 HG01261.hp1 HG02559.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0047 a0002c0003t0002g0234 a0002c0003t0002g0047 a0002c0003t0002g0234	3	360	0.0083	44	c.995 others(59): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CATCTCCC others(37): Show CATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG03225.hp1 HG00558.hp2 HG01106.hp1 HG03225.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0067 a0002c0002 a0003c0003 a0004c0067	a0002c0002t0003 a0003c0003t0004 a0004c0067t0004 a0002c0002t0003 a0003c0003t0004 a0004c0067t0004	a0002c0002t0003g0168 a0003c0003t0004g0248 a0004c0067t0004g0238 a0002c0002t0003g0168 a0003c0003t0004g0248 a0004c0067t0004g0238	3	262	0.0115	44	c.249 others(63): Show c.2496-1751_2496-1750insTGAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGGAGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669089	T T	TCTCCCTC others(37): Show TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19012.hp2 NA19065.hp1 HG03654.hp1 NA19012.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0004g0221	3	262	0.0115	44	c.249 others(63): Show c.2495+1494_2495+1495insGATGAGGGGAGAGGGAGGGTAAGGGG AGAGGGAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(37): Show GTGCGCACGCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0131 a0001c0001t0013g0131	1	322	0.0031	44	c.157 others(63): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(37): Show GTGCGCACGCACACACACACATACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0279 a0002c0004t0011g0279	1	322	0.0031	44	c.157 others(63): Show c.157-21366_157-21365insTGCGCACGCACACACACACATACACA CACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	322	0.0031	44	c.157 others(61): Show c.157-2485_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780469	A A	AATATATA others(37): Show AATATATATATATTATATATAATATATATATATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	330	0.0030	44	c.-28 others(55): Show c.-2883_-2882insATATATATATATTATATATAATATATATATATTA TATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2703		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780486	T T	TATATAAT others(37): Show TATATAATATATATATATTATATATATATATAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG06807.hp1 HG02055.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	330	0.0061	44	c.-28 others(55): Show c.-2866_-2865insATATAATATATATATATTATATATATATATAATA TATATATAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2686		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780488	T T	TATAATAT others(37): Show TATAATATATATATATTATATATATATATAATATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0001 a0001c0001t0003g0002	2	330	0.0061	44	c.-28 others(55): Show c.-2864_-2863insATAATATATATATATTATATATATATATAATATA TATATATAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2684		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(37): Show ATATATATATTATATATAATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01081.hp2 others(8): Show HG00408.hp1 HG00639.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01516.hp1 HG02965.hp1 HG03225.hp1 HG03540.hp1 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004	11	330	0.0333	44	c.-28 others(55): Show c.-2850_-2849insTATATATATTATATATAATATATATATATAATAT ATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0213 a0005c0006t0004g0213	1	224	0.0045	44	c.56- others(59): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	224	0.0045	44	c.55+ others(61): Show c.55+39114_55+39115insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18987.hp2 NA19083.hp2 NA18965.hp1 NA18987.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0006 a0001c0003t0001g0010	3	450	0.0067	44	c.31 others(55): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0015 a0004c0006t0012 a0003c0005t0015 a0004c0006t0012	a0003c0005t0015g0331 a0004c0006t0012g0074 a0003c0005t0015g0331 a0004c0006t0012g0074	2	414	0.0048	44	c.678 others(59): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(37): Show TACACACACACACATATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01981.hp2 HG03195.hp1 others(1): Show HG01346.hp2 HG01981.hp2 HG03195.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0055 others(1): Show a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0055 a0003c0004t0002g0006	4	382	0.0105	44	c.15 others(55): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02965.hp2 HG01167.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0130 a0001c0001t0026g0172 a0001c0001t0006g0130 a0001c0001t0026g0172	2	332	0.0060	44	c.852 others(61): Show c.852+1411_852+1412insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 NA19000.hp2 HG02273.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0151 a0001c0001t0001g0154	2	370	0.0054	44	c.-47 others(55): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(37): Show CACACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	312	0.0032	44	c.264 others(65): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(37): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(99): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0002c0002 a0002c0011 others(5): Show a0001c0001 a0002c0002 a0002c0011 a0003c0004 a0004c0006 a0005c0007 a0007c0012 a0010c0015	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0011t0001 a0003c0004t0001 a0004c0006t0001 a0005c0007t0001 a0007c0012t0001 a0010c0015t0001	a0001c0001t0001g0067 a0001c0001t0001g0107 a0001c0001t0001g0217 others(99): Show a0001c0001t0001g0067 a0001c0001t0001g0107 a0001c0001t0001g0217 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0252 a0002c0002t0004g0285 a0002c0002t0004g0286 a0002c0002t0004g0287 a0002c0002t0008g0113 a0002c0011t0001g0096 a0003c0004t0001g0073 a0003c0004t0001g0140 a0003c0004t0001g0160 a0004c0006t0001g0072 a0004c0006t0001g0076 a0005c0007t0001g0055 a0005c0007t0001g0116 a0007c0012t0001g0083 a0010c0015t0001g0074	102	304	0.3355	44	c.244 others(59): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0101 a0003c0007t0003g0101	1	434	0.0023	44	c.196 others(61): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATTTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCCPDH_chr1_246719409_246773137	246765062	G G	GGTATAAT others(37): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0259 a0001c0001t0007g0199 a0001c0001t0007g0259	2	410	0.0049	44	c.110 others(61): Show c.1102+748_1102+749insAGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	162	0.0062	44	c.156 others(63): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01071.hp2 others(4): Show HG00408.hp2 HG01070.hp1 HG01071.hp2 HG02004.hp2 HG02258.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0177 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0001g0386 a0001c0001t0001g0396 a0001c0001t0001g0398	7	415	0.0169	44	c.226 others(63): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	415	0.0024	44	c.226 others(63): Show c.226+13382_226+13383insGTGTATATATATATATATATATATAT ATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 4475 hits)