Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0080 a0002c0080	a0002c0080t0002 a0002c0080t0002	a0002c0080t0002g0060 a0002c0080t0002g0060	1	154	0.0065	50	c.51+ others(67): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664599	A A	ATATATAT others(43): Show ATATATATATATATATGTATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0048 a0006c0048	a0006c0048t0004 a0006c0048t0004	a0006c0048t0004g0002 a0006c0048t0004g0002	1	154	0.0065	50	c.561 others(67): Show c.5619+877_5619+878insGTATATATATATATATATATATATATAT ATATATGTATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794046	A A	ATTATATA others(43): Show ATTATATATAATATATACATAAATATATATAAATATATACATAATATATA T	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	50	c.983 others(69): Show c.9830+5589_9830+5590insTATATATAATATATACATAAATATAT ATAAATATATACATAATATATATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMD11_chr1_918923_949574	934150	G G	GGGCGGCT others(43): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0238 a0002c0003t0004g0238	1	434	0.0023	50	c.843 others(67): Show c.843-1620_843-1619insCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTGCGTTACAGGTGGGCGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(43): Show TGGAAGGAAGGAAGGAAGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAGGA A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19085.hp2 NA18986.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0137 a0001c0001t0026g0240 a0001c0001t0026g0137 a0001c0001t0026g0240	2	262	0.0076	50	c.716 others(69): Show c.716-13000_716-12999insAAGGAAGGAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(43): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02647.hp2 others(5): Show HG01081.hp2 HG01109.hp1 HG02647.hp2 NA18945.hp2 NA19000.hp1 NA19060.hp1 NA19084.hp1 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0016 a0002c0005 others(3): Show a0001c0001 a0001c0016 a0002c0005 a0002c0010 a0003c0009 a0004c0023	a0001c0001t0003 a0001c0016t0004 a0002c0005t0003 others(3): Show a0001c0001t0003 a0001c0016t0004 a0002c0005t0003 a0002c0010t0004 a0003c0009t0001 a0004c0023t0002	a0001c0001t0003g0251 a0001c0016t0004g0064 a0002c0005t0003g0103 others(5): Show a0001c0001t0003g0251 a0001c0016t0004g0064 a0002c0005t0003g0103 a0002c0005t0003g0109 a0002c0010t0004g0036 a0003c0009t0001g0157 a0004c0023t0002g0236 a0004c0023t0002g0237	8	262	0.0305	50	c.249 others(69): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGAGAGAGAGG GTGAGGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668897	T T	TCCCCTCA others(43): Show TCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCT C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0007 a0007	a0007c0062 a0007c0062	a0007c0062t0002 a0007c0062t0002	a0007c0062t0002g0039 a0007c0062t0002g0039	1	262	0.0038	50	c.249 others(69): Show c.2495+1686_2495+1687insGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669224	T T	TACCCTCC others(43): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCT C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0084 a0002c0005t0001g0084	1	262	0.0038	50	c.249 others(69): Show c.2495+1310_2495+1359dupGAGGGGAGAGGGAGGGTGAGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0163 a0001c0003t0002g0163	1	224	0.0045	50	c.139 others(67): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SCAMP5_chr15_74990563_75026495	74991034	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	370	0.0027	50	c.-46 others(61): Show c.-4688_-4687insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4528		chr15	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAAGAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0191 a0002c0003t0005g0191	1	210	0.0048	50	c.52 others(61): Show c.5213_*5214insTTTCTTTTTCTTTCTTTCTCTCTCTCTTTCTTTC TTTCTTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53083916	A A	ACAAAGGG others(43): Show ACAAAGGGCAAAAGCAGAACCACTGATAAGGATCCAAGAAAGATCACAGG G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0162 a0001c0004t0006g0162	1	162	0.0062	50	c.156 others(71): Show c.1561+61367_1561+61416dupCCCTGTGATCTTTCTTGGATCCTT ATCAGTGGTTCTGCTTTTGCCCTTTG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	402	0.0025	50	c.120 others(69): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 NA18955.hp1 others(2): Show HG00639.hp1 HG00733.hp2 NA18955.hp1 NA18993.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0384 a0001c0001t0002g0024	5	415	0.0121	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTATAT others(43): Show GTGTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	415	0.0024	50	c.226 others(69): Show c.226+13382_226+13383insGTATATATATATATATATATATATAT ATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01123.hp1 others(18): Show HG00642.hp2 HG00741.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG02040.hp2 HG02523.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03239.hp1 NA18612.hp2 NA18950.hp1 NA18953.hp2 NA18979.hp1 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0001g0173 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0030 a0001c0001t0003g0270	21	415	0.0506	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(6): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 NA18946.hp1 NA18954.hp2 NA18990.hp2 NA18992.hp2 NA19009.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0242 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0242 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0355 a0001c0001t0001g0363 a0001c0001t0002g0003	9	415	0.0217	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19084.hp1 NA18962.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0262 a0001c0001t0001g0263	2	415	0.0048	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATGT ATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657211	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	415	0.0024	50	c.226 others(69): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATGT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196287	G G	GGGGACAT others(43): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	354	0.0057	50	c.18 others(61): Show c.1837_*1838insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACCTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1713		chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237592	A A	ATGTATGG others(43): Show ATGTATGGTATGTCGCATGTTGCATTTTGCTTTGATATGGGTGTGATCTG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	50	c.-47 others(61): Show c.-4716_-4715insTGTATGGTATGTCGCATGTTGCATTTTGCTTTGA TATGGGTGTGATCTGC	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4646		chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34668712	G G	GACACTCT others(43): Show GACACTCTGTATCTAGCTACTCTGGTGGGGACTTGGAGAACCTTTGTGTC C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG03209.hp1 HG01884.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0098 a0001c0001t0112 a0001c0001t0017 a0001c0001t0098 a0001c0001t0112	a0001c0001t0017g0263 a0001c0001t0098g0264 a0001c0001t0112g0315 a0001c0001t0017g0263 a0001c0001t0098g0264 a0001c0001t0112g0315	3	370	0.0081	50	c.-20 others(71): Show c.-2032+6868_-2032+6917dupGGACACAAAGGTTCTCCAAGTCCC CACCAGAGTAGCTAGATACAGAGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCML4_chr6_107697154_107829313	107751592	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0066 a0001c0009t0006g0066	1	250	0.0040	50	c.157 others(67): Show c.157-1780_157-1779insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414150	A A	ATATATTA others(43): Show ATATATTATATATAAATATATATAATATATTATATATATGTAAATATATA T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02818.hp1 others(6): Show HG00741.hp2 HG01243.hp1 HG02818.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG04228.hp1 NA18612.hp2	a0006 a0027 a0006 a0027	a0006c0006 a0027c0031 a0006c0006 a0027c0031	a0006c0006t0006 a0006c0006t0029 a0027c0031t0004 a0006c0006t0006 a0006c0006t0029 a0027c0031t0004	a0006c0006t0006g0024 a0006c0006t0006g0027 a0006c0006t0006g0028 others(6): Show a0006c0006t0006g0024 a0006c0006t0006g0027 a0006c0006t0006g0028 a0006c0006t0006g0030 a0006c0006t0006g0035 a0006c0006t0006g0037 a0006c0006t0006g0038 a0006c0006t0029g0023 a0027c0031t0004g0029	9	394	0.0228	50	c.341 others(69): Show c.3415-1030_3415-1029insATATATATTTACATATATATAATATA TTATATATATTTATATATAATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(43): Show TATAATATATAATATATATTTATAGGATAATATATAATATATATTTATAG G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0028 a0004c0024t0028	a0004c0024t0028g0342 a0004c0024t0028g0342	1	394	0.0025	50	c.341 others(69): Show c.3415-1733_3415-1732insCCTATAAATATATATTATATATTATC CTATAAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343597	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0148 a0001c0008t0001g0148	1	306	0.0033	50	c.-8- others(65): Show c.-8-4993_-8-4944dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(43): Show CCGTGTCTCTGCCCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCG T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	50	c.166 others(67): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCCGTGTCTGCTC CGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCPEP1_chr17_56973131_57011768	56974604	G G	GGATCTCT others(43): Show GGATCTCTCCGCACATCTGCCTCCCCCGGTCGCCTCTCCCCCTCCCCCCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	380	0.0026	50	c.-35 others(61): Show c.-3556_-3555insGATCTCTCCGCACATCTGCCTCCCCCGGTCGCCT CTCCCCCTCCCCCCTT	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		3526		chr17	TogoVar
SCTR_chr2_119434843_119529483	119512435	T T	TTCCCAGG others(43): Show TTCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCATCCTCTGC C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02486.hp2 others(6): Show HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0001t0001 a0001c0001t0002 a0001c0004t0004	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0002g0099 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0171 a0001c0004t0004g0070	9	290	0.0310	50	c.72+ others(67): Show c.72+11670_72+11719dupGGCAGAGGATGCAGTGAGCTGAGATTGC GCCACTGCACTCCAGCCTGGGA	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43192589	T T	TATATGAG others(43): Show TATATGAGTATATATATATACGTGTATATATATGTGTATATATATATACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0026 a0002c0014t0026	a0002c0014t0026g0130 a0002c0014t0026g0130	1	280	0.0036	50	c.11 others(63): Show c.11407_*11408insGTGTATATATATATACACATATATATACACGT ATATATATATACTCATAT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4690		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280444	C C	CCCGTCCC others(43): Show CCCGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCT G	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18747.hp2 NA18944.hp2 others(2): Show HG02071.hp1 NA18747.hp2 NA18944.hp2 NA18962.hp2 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0002c0002 a0003c0001	a0002c0002t0001 a0002c0002t0002 a0002c0002t0059 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0059 a0003c0001t0001 a0003c0001t0053	a0002c0002t0001g0122 a0002c0002t0002g0027 a0002c0002t0059g0103 others(2): Show a0002c0002t0001g0122 a0002c0002t0002g0027 a0002c0002t0059g0103 a0003c0001t0001g0104 a0003c0001t0053g0203	5	280	0.0179	50	c.484 others(69): Show c.484+10601_484+10602insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(43): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02922.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0000 a0005c0006t0000	a0005c0006t0000g0000 a0005c0006t0000g0000	3	454	0.0066	50	c.-19 others(61): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(43): Show GCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01361.hp1 others(15): Show HG00609.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01978.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 NA18970.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 a0002c0005t0001g0017	18	278	0.0648	50	c.-30 others(59): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTC CCTAGCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(43): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01346.hp2 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0003 a0001c0003t0003 a0002c0002t0003	a0001c0003t0003g0203 a0002c0002t0003g0221 a0001c0003t0003g0203 a0002c0002t0003g0221	2	334	0.0060	50	c.61- others(67): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	116	0.0086	50	c.301 others(69): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGTGTATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4146275	C C	CCTGCTCT others(43): Show CCTGCTCTCTCAGACATGTGAGCATTGCATGACACACTTTCAGCCTCACA G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0001 a0006c0044t0001	a0006c0044t0001g0020 a0006c0044t0001g0020	1	116	0.0086	50	c.442 others(67): Show c.4423+389_4423+438dupGACACACTTTCAGCCTCACAGCTGCTCT CTCAGACATGTGAGCATTGCAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	29/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0009 a0001c0072t0009	a0001c0072t0009g0074 a0001c0072t0009g0074	1	204	0.0049	50	c.559 others(69): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA TATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454724	A A	AATATATA others(43): Show AATATATAATATATAATAATATTATTATATATAATATATAATAATATTAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02572.hp2 HG02723.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0059 a0006c0006t0001g0059	2	454	0.0044	50	c.52 others(61): Show c.5296_*5297insAATAATATTATTATATATTATATATAATAATATT ATTATATATTATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4504		chr22	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(43): Show TATATATATATACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	222	0.0045	50	c.116 others(69): Show c.1165+1199_1165+1200insTATATATATACACACACACACACACA CACACACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82890607	T T	TAATCCTA others(43): Show TAATCCTAGTTAAATGACAGTAGACGTCAGTTCAAACCTATGAACCTTTA A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	328	0.0031	50	c.-5+ others(63): Show c.-5+431_-5+480dupTTAAAGGTTCATAGGTTTGAACTGACGTCTAC TGTCATTTAACTAGGATT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(43): Show CATATATATATTCCATATATATATATATTCCATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	324	0.0031	50	c.115 others(67): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATTTA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18985.hp2 HG06807.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0012 a0001c0001t0003 a0001c0008t0012	a0001c0001t0003g0211 a0001c0008t0012g0143 a0001c0001t0003g0211 a0001c0008t0012g0143	2	312	0.0064	50	c.19 others(61): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMG2_chr20_45216373_45229458	45216746	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	362	0.0028	50	c.-46 others(61): Show c.-4644_-4643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		4626		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225548	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG00741.hp2 others(8): Show HG00597.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG02523.hp2 HG02723.hp2 HG04184.hp2 NA19057.hp1 NA19074.hp2 NA20129.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	11	362	0.0304	50	c.13 others(61): Show c.1302_*1303insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1091		chr20	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0274 a0001c0001t0032g0274	1	306	0.0033	50	c.188 others(69): Show c.1885-8827_1885-8826insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77380262	C C	CCCCCCCC others(43): Show CCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCATGCCC G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0054 a0005c0008t0003g0054	1	150	0.0067	50	c.77- others(67): Show c.77-21790_77-21789insGCATGCCCGCCTCCCCCTCCATGCCCGC TCCCCCCCATGCCCGCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77380262	C C	CCCCCCCC others(43): Show CCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCATGCCC G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0146 a0005c0008t0004g0146	1	158	0.0063	50	c.23- others(67): Show c.23-21790_23-21789insGCATGCCCGCCTCCCCCTCCATGCCCGC TCCCCCCCATGCCCGCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169360	A A	ATATATAT others(43): Show ATATATATAATATGTATATTATATATTATATATAATATGTATATTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19084.hp1 NA19084.hp2 HG03834.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0132	3	366	0.0082	50	c.-12 others(61): Show c.-1223_-1222insATATATAATATACATATTATATATAATATATAAT ATACATATTATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1099		chr6	TogoVar
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(43): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0083 a0001c0001t0001g0085	2	226	0.0089	50	c.101 others(71): Show c.1012-18659_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	438	0.0023	50	c.-17 others(69): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar

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