Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RUBCN_chr3_197663867_197741904	197731626	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	186	0.0054	51	c.65+ others(66): Show c.65+5028_65+5029insGTCAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGG		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19						chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(44): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0110 a0001c0001t0019g0110	1	202	0.0050	51	c.-26 others(62): Show c.-2626_-2625insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATAT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(44): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	202	0.0050	51	c.-25 others(62): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATAT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2151		chr7	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(44): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	386	0.0026	51	c.241 others(67): Show c.241+973_241+1023dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP3_chr5_33931386_33943918	33935020	T T	TTTTCTTT others(44): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0000 a0001c0003t0006g0000	1	445	0.0023	51	c.-17 others(62): Show c.-1721_-1720insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTCTTTCTTTC		RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding					1365		chr5	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(44): Show CCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCT TT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG02293.hp1 HG00738.hp2 HG01074.hp1 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0003 a0001c0003t0001 a0003c0006t0004 a0001c0001t0003 a0001c0003t0001 a0003c0006t0004	a0001c0001t0003g0089 a0001c0003t0001g0078 a0003c0006t0004g0088 a0001c0001t0003g0089 a0001c0003t0001g0078 a0003c0006t0004g0088	3	100	0.0300	51	c.49- others(68): Show c.49-32540_49-32539insCCTTTCCTTTCCCCTTTCCTTTCCCCTT TCCTTTCCTTTCCTTTCCTTTCC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0037 a0001c0048 a0001c0037 a0001c0048	a0001c0037t0010 a0001c0048t0001 a0001c0037t0010 a0001c0048t0001	a0001c0037t0010g0037 a0001c0048t0001g0007 a0001c0037t0010g0037 a0001c0048t0001g0007	2	100	0.0200	51	c.170 others(70): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101244310	C C	CAATAATA others(44): Show CAATAATATCCATAATTATATATATCATATTAATCATATCAATATAATTC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	51	c.41 others(62): Show c.4177_*4178insAATAATATCCATAATTATATATATCATATTAATC ATATCAATATAATTCAT		S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding					2793		chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(44): Show TGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0236 a0001c0001t0012g0236	1	262	0.0038	51	c.716 others(70): Show c.716-13000_716-12999insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAG		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(44): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT CA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0003 a0003c0040t0003	a0003c0040t0003g0122 a0003c0040t0003g0122	1	262	0.0038	51	c.249 others(70): Show c.2496-1585_2496-1584insTGAGAGGGAGGGTGAGGGAGAGAGAG GGTGAGGGGAGAGGGAGGGTGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669171	T T	TCCCCTCA others(44): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTC TC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0030 a0001c0051 a0001c0030 a0001c0051	a0001c0030t0002 a0001c0051t0002 a0001c0030t0002 a0001c0051t0002	a0001c0030t0002g0231 a0001c0051t0002g0032 a0001c0030t0002g0231 a0001c0051t0002g0032	2	262	0.0076	51	c.249 others(70): Show c.2495+1412_2495+1413insGAGAGGGAGGATGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	224	0.0045	51	c.56- others(66): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATA		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	332	0.0030	51	c.852 others(68): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8						chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990952	C C	CTTCTTTC others(44): Show CTTCTTTCTTCTTTTTCTTCTCTTTCTCTCTTTCTCTTCTTTCTTTCTTT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	370	0.0027	51	c.-47 others(62): Show c.-4770_-4769insTTCTTTCTTCTTTTTCTTCTCTTTCTCTCTTTCT CTTCTTTCTTTCTTTCT		SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding					4610		chr15	TogoVar
SCGB1C1_chr11_188078_199575	196267	T T	TTGGTGAG others(44): Show TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01433.hp2 others(3): Show HG00280.hp1 HG00735.hp1 HG01433.hp2 HG01934.hp1 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	354	0.0170	51	c.18 others(62): Show c.1817_*1818insTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACC		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1693		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38877032	G G	GTATATAT others(44): Show GTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATAT AC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02630.hp1 HG01993.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0038 a0001c0002t0004g0262 a0001c0001t0002g0038 a0001c0002t0004g0262	2	314	0.0064	51	c.339 others(70): Show c.3393+2867_3393+2917dupGTATATACACCATATATATACCATAT ATATAGTATATACACCATATATATA		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTC CT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0212 a0001c0001t0009g0212	1	358	0.0028	51	c.-51 others(68): Show c.-51-4245_-51-4244insTTTCTTTCTTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTCCT		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26						chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281506	T T	TCCCTCAG others(44): Show TCCCTCAGTCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACC TC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0072 a0002c0002t0060g0072	1	280	0.0036	51	c.484 others(68): Show c.484+9539_484+9540insGAGGTGACAGGAGGGTGGCTGAGGAGGA GGTGACAGGAGGGTGACTGAGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYGR6_chr2_227719440_227729757	227724482	G G	GCCCTTCT others(44): Show GCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAACAGCCCTTCTGCTGGC AA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03017.hp2 NA18961.hp1 NA18972.hp1 HG03017.hp2 NA18961.hp1 NA18972.hp1	a0010 a0011 a0010 a0011	a0010c0016 a0011c0028 a0010c0016 a0011c0028	a0010c0016t0000 a0011c0028t0000 a0010c0016t0000 a0011c0028t0000	a0010c0016t0000g0000 a0011c0028t0000g0000 a0010c0016t0000g0000 a0011c0028t0000g0000	3	455	0.0066	51	c.275 others(58): Show c.275_276insTTGCCAGCAGAAGGGCTGTTGCCAGCAGAAGGGCTGTT GCCAGCAGAAGGG	p.Cys others(62): Show p.Cys92_Cys93insCysGlnGlnLysGlyCysCysGlnGlnLysGlyC ysCysGlnGlnLysGly	SCYGR6	ENSG00000284725.1	transcript	ENST00000641918.1	protein_coding	1/1	275/318	275/318	92/105			chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227724482	G G	GCCCTTCT others(44): Show GCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAACAGCCCTTCTGCTGGC AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA18961.hp2 NA18972.hp1 HG03017.hp2 NA18961.hp2 NA18972.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0003 a0003c0005 a0004c0003	a0003c0005t0000 a0004c0003t0000 a0003c0005t0000 a0004c0003t0000	a0003c0005t0000g0000 a0004c0003t0000g0000 a0003c0005t0000g0000 a0004c0003t0000g0000	3	456	0.0066	51	c.-38 others(62): Show c.-3853_-3852insCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAAC AGCCCTTCTGCTGGCAA		SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding					3852		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(44): Show GCCCCGCCCCTCCCTAGCCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	278	0.0036	51	c.-30 others(60): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCCATCCCCGCCCCT CCCTAGCCCCCCCAT		SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding					235		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524872	T T	TCCCCCGC others(44): Show TCCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	278	0.0036	51	c.-28 others(60): Show c.-282_-281insCCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCT CCCTAGCCCCCCCAT		SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding					210		chr11	TogoVar
SDC2_chr8_96488813_96616790	96508302	T T	TAATAATA others(44): Show TAATAATAATAATAATAATAATAATAATAATAATAATAATAGCTCCGTCT CA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	334	0.0030	51	c.60+ others(68): Show c.60+14011_60+14012insGCTCCGTCTCAAATAATAATAATAATAA TAATAATAATAATAATAATAATA		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(44): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0167 a0002c0002t0005g0167	1	334	0.0030	51	c.61- others(68): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	3975897	A A	AGCTGCCA others(44): Show AGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	116	0.0086	51	c.199 others(70): Show c.1994+1361_1994+1362insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975897	A A	AGCTGCCA others(44): Show AGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0003 a0003c0001t0003	a0003c0001t0003g0037 a0003c0001t0003g0037	1	116	0.0086	51	c.199 others(70): Show c.1994+1362_1994+1412dupTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975906	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0069 a0026c0069t0069	a0026c0069t0069g0064 a0026c0069t0069g0064	1	116	0.0086	51	c.199 others(70): Show c.1994+1361_1994+1362insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCAC GC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0018 a0001c0031t0001g0018	1	116	0.0086	51	c.199 others(70): Show c.1994+1394_1994+1395insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC AC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0080 a0005c0080	a0005c0080t0014 a0005c0080t0014	a0005c0080t0014g0078 a0005c0080t0014g0078	1	116	0.0086	51	c.199 others(70): Show c.1994+1411_1994+1412insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01934.hp1 HG02809.hp1 others(1): Show HG00408.hp2 HG01934.hp1 HG02809.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0034 a0001c0062 others(1): Show a0001c0008 a0001c0034 a0001c0062 a0002c0053	a0001c0008t0007 a0001c0034t0028 a0001c0062t0053 others(1): Show a0001c0008t0007 a0001c0034t0028 a0001c0062t0053 a0002c0053t0067	a0001c0008t0007g0067 a0001c0034t0028g0097 a0001c0062t0053g0042 others(1): Show a0001c0008t0007g0067 a0001c0034t0028g0097 a0001c0062t0053g0042 a0002c0053t0067g0034	4	116	0.0345	51	c.199 others(70): Show c.1994+1419_1994+1469dupGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975911	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0012 a0006c0006t0012	a0006c0006t0012g0115 a0006c0006t0012g0115	1	116	0.0086	51	c.199 others(70): Show c.1994+1416_1994+1417insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975914	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0085 a0001c0010t0002g0085	1	116	0.0086	51	c.199 others(70): Show c.1994+1386_1994+1387insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGCCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0064 a0002c0013t0064	a0002c0013t0064g0026 a0002c0013t0064g0026	1	116	0.0086	51	c.199 others(70): Show c.1994+1418_1994+1419insATCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0029 a0029	a0029c0063 a0029c0063	a0029c0063t0007 a0029c0063t0007	a0029c0063t0007g0106 a0029c0063t0007g0106	1	116	0.0086	51	c.199 others(70): Show c.1994+1437_1994+1438insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975965	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0080 a0005c0080	a0005c0080t0014 a0005c0080t0014	a0005c0080t0014g0078 a0005c0080t0014g0078	1	116	0.0086	51	c.199 others(70): Show c.1994+1469_1994+1470insGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976008	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCACGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0021 a0021	a0021c0045 a0021c0045	a0021c0045t0015 a0021c0045t0015	a0021c0045t0015g0046 a0021c0045t0015g0046	1	116	0.0086	51	c.199 others(70): Show c.1994+1469_1994+1470insGTCCTCCAGAGAATCACTGGGGGTCC CACGGCTGAGGCTGCCACACAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976011	G G	AAGGGTCC others(44): Show AAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	51	c.199 others(70): Show c.1994+1465_1994+1466insAAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976015	A A	ATCCTCCA others(44): Show ATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	116	0.0086	51	c.199 others(70): Show c.1994+1488_1994+1489insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976034	G G	GGGGTCCC others(44): Show GGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0067 a0001c0008t0007g0067	1	116	0.0086	51	c.199 others(70): Show c.1994+1514_1994+1515insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976058	C C	CACAGAGG others(44): Show CACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0033 a0001c0007t0003g0033	1	116	0.0086	51	c.199 others(70): Show c.1994+1513_1994+1514insACAGAGGATCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976085	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	51	c.199 others(70): Show c.1994+1590_1994+1591insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976109	C C	CGCAGAGG others(44): Show CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0056 a0004c0056	a0004c0056t0006 a0004c0056t0006	a0004c0056t0006g0098 a0004c0056t0006g0098	1	116	0.0086	51	c.199 others(70): Show c.1994+1614_1994+1615insTGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976110	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02615.hp2 HG02886.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0012t0016g0002 a0002c0012t0016g0003	2	116	0.0172	51	c.199 others(70): Show c.1994+1615_1994+1616insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976111	C C	CAGAGGGT others(44): Show CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0030 a0016c0023t0030	a0016c0023t0030g0113 a0016c0023t0030g0113	1	116	0.0086	51	c.199 others(70): Show c.1994+1616_1994+1617insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976136	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0086 a0001c0026t0002g0086	1	116	0.0086	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976144	G G	GGGGCTGA others(44): Show GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0025 a0024c0094t0025	a0024c0094t0025g0049 a0024c0094t0025g0049	1	116	0.0086	51	c.199 others(70): Show c.1994+1649_1994+1650insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0034 a0034	a0034c0081 a0034c0081	a0034c0081t0008 a0034c0081t0008	a0034c0081t0008g0075 a0034c0081t0008g0075	1	116	0.0086	51	c.199 others(70): Show c.1994+1666_1994+1667insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCACGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0021 a0021	a0021c0045 a0021c0045	a0021c0045t0015 a0021c0045t0015	a0021c0045t0015g0046 a0021c0045t0015g0046	1	116	0.0086	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCACGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GTAGAGGG others(44): Show GTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0007 a0011c0022t0072g0007	1	116	0.0086	51	c.199 others(70): Show c.1994+1616_1994+1617insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976166	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0005 a0023c0035t0005	a0023c0035t0005g0058 a0023c0035t0005g0058	1	116	0.0086	51	c.199 others(70): Show c.1994+1671_1994+1672insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results