Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FRAS1_chr4_78052323_78549269	78249064	C C	CATATATA others(19): Show CATATATATATATATATGCATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18986.hp1 NA18950.hp1 NA18986.hp1	a0001 a0003 a0001 a0003	a0001c0013 a0003c0002 a0001c0013 a0003c0002	a0001c0013t0003 a0003c0002t0002 a0001c0013t0003 a0003c0002t0002	a0001c0013t0003g0070 a0003c0002t0002g0012 a0001c0013t0003g0070 a0003c0002t0002g0012	2	24	0.0833	26	c.310 others(43): Show c.310-3312_310-3311insGCATATATATATATATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	4/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78483768	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG06807.hp1 NA18950.hp1 others(1): Show HG00735.hp2 HG06807.hp1 NA18950.hp1 NA19085.hp1	a0003 a0024 a0035 a0003 a0024 a0035	a0003c0002 a0024c0090 a0035c0083 a0003c0002 a0024c0090 a0035c0083	a0003c0002t0001 a0003c0002t0002 a0024c0090t0033 others(1): Show a0003c0002t0001 a0003c0002t0002 a0024c0090t0033 a0035c0083t0042	a0003c0002t0001g0057 a0003c0002t0002g0012 a0024c0090t0033g0164 others(1): Show a0003c0002t0001g0057 a0003c0002t0002g0012 a0024c0090t0033g0164 a0035c0083t0042g0112	4	71	0.0563	26	c.875 others(45): Show c.8752+1234_8752+1235insATATATATATATATATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	58/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14778681	G G	GAAGGGAA others(19): Show GAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0001 a0003c0052t0001	a0003c0052t0001g0034 a0003c0052t0001g0035 a0003c0052t0001g0034 a0003c0052t0001g0035	2	40	0.0500	26	c.444 others(45): Show c.4443-2479_4443-2478insTCCCTTCCCTTCCCTTCCCTTCCCTT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14780433	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0322 a0004c0016t0001g0322	1	163	0.0061	26	c.444 others(45): Show c.4442+3936_4442+3937insTTTTTTTTTTTTTTTTTTTTTTTTTT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTAT others(19): Show GTGTGTATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02922.hp2 others(3): Show HG02280.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2	a0006 a0038 a0088 a0006 a0038 a0088	a0006c0014 a0038c0136 a0038c0185 others(1): Show a0006c0014 a0038c0136 a0038c0185 a0088c0165	a0006c0014t0001 a0038c0136t0001 a0038c0185t0002 others(1): Show a0006c0014t0001 a0038c0136t0001 a0038c0185t0002 a0088c0165t0006	a0006c0014t0001g0087 a0006c0014t0001g0108 a0006c0014t0001g0109 others(3): Show a0006c0014t0001g0087 a0006c0014t0001g0108 a0006c0014t0001g0109 a0038c0136t0001g0093 a0038c0185t0002g0243 a0088c0165t0006g0069	6	60	0.1000	26	c.188 others(43): Show c.1882-556_1882-555insTATATATATGTATATATATATACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0033 a0081 a0033 a0081	a0033c0137 a0081c0140 a0033c0137 a0081c0140	a0033c0137t0004 a0081c0140t0001 a0033c0137t0004 a0081c0140t0001	a0033c0137t0004g0057 a0081c0140t0001g0211 a0033c0137t0004g0057 a0081c0140t0001g0211	2	56	0.0357	26	c.188 others(43): Show c.1882-556_1882-555insTATATATATGTATATATATACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0002 a0012c0022t0002	a0012c0022t0002g0157 a0012c0022t0002g0157	1	55	0.0182	26	c.188 others(43): Show c.1882-556_1882-555insTATATATGTATATATATATACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG02559.hp2 others(6): Show HG01192.hp1 HG01257.hp1 HG02559.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG04184.hp1 NA18975.hp1 NA19062.hp2	a0018 a0019 a0020 others(2): Show a0018 a0019 a0020 a0027 a0068	a0018c0106 a0018c0226 a0019c0019 others(5): Show a0018c0106 a0018c0226 a0019c0019 a0019c0102 a0020c0133 a0027c0034 a0027c0105 a0068c0132	a0018c0106t0001 a0018c0226t0002 a0019c0019t0001 others(5): Show a0018c0106t0001 a0018c0226t0002 a0019c0019t0001 a0019c0102t0001 a0020c0133t0001 a0027c0034t0001 a0027c0105t0001 a0068c0132t0003	a0018c0106t0001g0290 a0018c0226t0002g0123 a0019c0019t0001g0142 others(6): Show a0018c0106t0001g0290 a0018c0226t0002g0123 a0019c0019t0001g0142 a0019c0019t0001g0143 a0019c0102t0001g0271 a0020c0133t0001g0333 a0027c0034t0001g0182 a0027c0105t0001g0303 a0068c0132t0003g0296	9	63	0.1429	26	c.188 others(43): Show c.1882-556_1882-555insTATATATATATATATATATACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14860586	T T	TATATATA others(19): Show TATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0048 a0048	a0048c0202 a0048c0202	a0048c0202t0002 a0048c0202t0002	a0048c0202t0002g0137 a0048c0202t0002g0137	1	246	0.0041	26	c.330 others(43): Show c.330-1103_330-1102insGTGTATATATATATGTGTATATATAT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14860863	A A	ATATATAC others(19): Show ATATATACGTATATATACATATATACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0113 a0113	a0113c0128 a0113c0128	a0113c0128t0001 a0113c0128t0001	a0113c0128t0001g0036 a0113c0128t0001g0036	1	330	0.0030	26	c.330 others(43): Show c.330-1380_330-1379insCGTATATATGTATATATACGTATATA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14861358	C C	CACATATA others(19): Show CACATATATACATATATACACATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0076 a0076	a0076c0058 a0076c0058	a0076c0058t0004 a0076c0058t0004	a0076c0058t0004g0101 a0076c0058t0004g0101	1	293	0.0034	26	c.330 others(43): Show c.330-1875_330-1874insATATATGTGTATATATGTATATATGT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FREM2_chr13_38682077_38892131	38840644	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03139.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0020 a0001c0009t0008 a0001c0009t0020	a0001c0009t0008g0262 a0001c0009t0020g0248 a0001c0009t0020g0250 a0001c0009t0008g0262 a0001c0009t0020g0248 a0001c0009t0020g0250	3	207	0.0145	26	c.602 others(45): Show c.6020-5928_6020-5927insATATATATATATATATATATATGTGT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRG2C_chr3_75659328_75672173	75671915	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGGGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0003 a0001c0003t0012g0003	1	357	0.0028	26	c.58 others(37): Show c.5874_*5875insAGAGAGAGAGAGAGAGGGAGAGAGAC	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4743		chr3	TogoVar
FRMD3_chr9_83239622_83543401	83261102	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0127 a0001c0002t0067g0127	1	9	0.1111	26	c.119 others(47): Show c.1196-12612_1196-12587dupGTGTGTGTGTGTGTGTGTGTGTGT GT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	13/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83378450	A A	ATATATAT others(19): Show ATATATATATAATATACATATAAAATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0062 a0001c0001t0008 a0001c0001t0062	a0001c0001t0008g0005 a0001c0001t0062g0148 a0001c0001t0008g0005 a0001c0001t0062g0148	2	75	0.0267	26	c.253 others(43): Show c.253-5521_253-5496dupAATTTTATATGTATATTATATATATA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	2/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479704	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0021 a0003c0007t0021	a0003c0007t0021g0013 a0003c0007t0021g0013	1	229	0.0044	26	c.147 others(45): Show c.147+58380_147+58381insTTCTTTCTTTCTTTCTTTCTTTCTTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83536930	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	80	0.0125	26	c.147 others(43): Show c.147+1154_147+1155insTTTTTTTTTTTTTTTTTTTTTTTTTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	54	0.0185	26	c.111 others(45): Show c.1118-4456_1118-4431dupGTGTGTGTGTGTGTGTGTGTGTGTGT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02132.hp2 others(3): Show HG01243.hp1 HG02055.hp1 HG02132.hp2 HG02897.hp2 NA18957.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0033 a0001c0001t0001g0115 a0001c0001t0003g0089 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0115 a0001c0001t0003g0089 a0001c0001t0004g0073 a0001c0001t0007g0060 a0001c0001t0007g0107	6	59	0.1017	26	c.111 others(45): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTGTAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13902456	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0082 a0001c0002t0014g0082	1	10	0.1000	26	c.46- others(43): Show c.46-43570_46-43545dupTCTCTCTCTCTCTCTCTCTCTCTCTC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13921262	C C	CTTTCTCT others(19): Show CTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0011 a0001c0003t0018g0011	1	134	0.0075	26	c.46- others(43): Show c.46-62351_46-62350insAAGAGAGAAAGAGAGAAAGAGAGAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14110125	T T	TTAAAAAA others(19): Show TTAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	42	0.0238	26	c.45+ others(45): Show c.45+219932_45+219933insTTTTTTTTTTTTTTTTTTTTTTTTTA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14227243	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	22	0.0455	26	c.45+ others(45): Show c.45+102814_45+102815insAAAAAAAAGAAAAAAAAAAAAAAAAA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319349	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01975.hp1 NA20300.hp1 HG01071.hp1 HG01975.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0004g0014 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0004g0014	3	60	0.0500	26	c.45+ others(43): Show c.45+10708_45+10709insAGAGAGAGAGAGAGAGAGAGAGAGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	100	0.0100	26	c.45+ others(43): Show c.45+10690_45+10691insTGTGTGAGAGAGAGAGAGAGAGAGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 NA18522.hp2 HG03130.hp1 HG03540.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0002c0004t0010 a0001c0001t0002 a0001c0001t0004 a0002c0004t0010	a0001c0001t0002g0054 a0001c0001t0004g0052 a0002c0004t0010g0053 a0001c0001t0002g0054 a0001c0001t0004g0052 a0002c0004t0010g0053	3	102	0.0294	26	c.45+ others(43): Show c.45+10690_45+10691insTGTGAGAGAGAGAGAGAGAGAGAGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69215284	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 HG02630.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0039 a0002c0002t0021 a0001c0001t0039 a0002c0002t0021	a0001c0001t0039g0059 a0002c0002t0021g0182 a0001c0001t0039g0059 a0002c0002t0021g0182	2	49	0.0408	26	c.876 others(41): Show c.876+953_876+978dupAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	11/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69325085	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp2 HG03540.hp1 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0038 a0004c0006t0007 a0002c0002t0038 a0004c0006t0007	a0002c0002t0038g0201 a0004c0006t0007g0073 a0002c0002t0038g0201 a0004c0006t0007g0073	2	19	0.1053	26	c.163 others(45): Show c.163-11569_163-11568insCTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD5_chr15_43865764_44200271	43914723	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	58	0.0172	26	c.329 others(43): Show c.329+4735_329+4736insAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	4/13			chr15	TogoVar
FRMD7_chrX_132071990_132133020	132107604	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0110 a0003c0004t0004g0110	1	145	0.0069	26	c.58- others(41): Show c.58-6914_58-6889dupTCTCTCTCTCTCTCTCTCTCTCTCTC	FRMD7	ENSG00000165694.11	transcript	ENST00000298542.9	protein_coding	1/11			chrX	TogoVar
FRMD8_chr11_65381637_65418525	65401322	C C	CTCCCTCC others(19): Show CTCCCTCCCCTGCTTCCCTCCCCTGCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	364	0.0055	26	c.107 others(43): Show c.1071+464_1071+465insTGCTTCCCTCCCCTGCTTCCCTCCCC	FRMD8	ENSG00000126391.14	transcript	ENST00000317568.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
FRMPD2_chr10_48151562_48279696	48181858	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19081.hp2 HG00280.hp1 NA19081.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0016 a0002c0002 a0003c0016	a0002c0002t0003 a0003c0016t0001 a0002c0002t0003 a0003c0016t0001	a0002c0002t0003g0097 a0003c0016t0001g0215 a0002c0002t0003g0097 a0003c0016t0001g0215	2	109	0.0183	26	c.258 others(43): Show c.2585-851_2585-850insATATATATATATATATATATATATAT	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28			chr10	TogoVar
FRMPD2_chr10_48151562_48279696	48183851	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0005 a0009c0010t0001g0005	1	112	0.0089	26	c.258 others(43): Show c.2584+714_2584+715insTTTTTTTTTTTTTTTTTTTTTTTTTT	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28			chr10	TogoVar
FRMPD4_chrX_12133473_12729523	12332060	A A	ATTTATAT others(19): Show ATTTATATACTATATATAATTTATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	158	0.0063	26	c.42- others(45): Show c.42-166620_42-166619insTTTATATACTATATATAATTTATATT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12388850	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0009	1	134	0.0075	26	c.42- others(45): Show c.42-109829_42-109828insTATATATATATATATATATACACACA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12479447	T T	TACATATA others(19): Show TACATATATACGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG03453.hp1 others(2): Show HG01071.hp2 HG01109.hp1 HG03453.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 others(2): Show a0001c0001 a0001c0007 a0002c0004 a0002c0005 a0002c0011	a0001c0001t0001 a0001c0007t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0002c0004t0001 a0002c0005t0001 a0002c0011t0001	a0001c0001t0001g0034 a0001c0007t0001g0086 a0002c0004t0001g0007 others(2): Show a0001c0001t0001g0034 a0001c0007t0001g0086 a0002c0004t0001g0007 a0002c0005t0001g0062 a0002c0011t0001g0037	5	171	0.0292	26	c.42- others(43): Show c.42-19232_42-19231insCATATATACGTATATATATATACACA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12481942	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp1 HG02027.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0153 a0001c0002t0001g0159 a0001c0001t0002g0153 a0001c0002t0001g0159	2	30	0.0667	26	c.42- others(43): Show c.42-16734_42-16709dupAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12553466	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	123	0.0081	26	c.158 others(45): Show c.158+54671_158+54672insATATATATATATATATATATATATCT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12720053	A A	AGGAAAGG others(19): Show AGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0024 a0002c0004t0001g0024	1	153	0.0065	26	c.396 others(43): Show c.3965-480_3965-479insGAAAGGAAAGGAAAGGAAAGGAAAGG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRRS1L_chr9_109125293_109172249	109131978	A A	ATTTTATT others(19): Show ATTTTATTTTATTTTATTTTATTTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG03834.hp1 HG04115.hp1 others(2): Show HG02074.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0051 a0001c0001t0005 a0001c0001t0051	a0001c0001t0005g0007 a0001c0001t0005g0296 a0001c0001t0005g0299 others(2): Show a0001c0001t0005g0007 a0001c0001t0005g0296 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0051g0293	5	277	0.0181	26	c.54 others(37): Show c.5476_*5477insATAAAATAAAATAAAATAAAATAAAA	FRRS1L	ENSG00000260230.5	transcript	ENST00000561981.5	protein_coding	5/5	5476		chr9	TogoVar
FRS2_chr12_69465388_69584793	69485085	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	323	0.0031	26	c.-26 others(47): Show c.-261+14578_-261+14579insGCGCACACACACACACACACACAC AC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485087	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	307	0.0033	26	c.-26 others(47): Show c.-261+14580_-261+14581insGCGCACACACACACACACACACAC AC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485089	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02148.hp1 others(10): Show HG00609.hp2 HG00673.hp1 HG02148.hp1 HG02683.hp2 HG03831.hp2 NA18943.hp1 NA18953.hp1 NA18966.hp2 NA18988.hp1 NA19006.hp1 NA19007.hp2 NA19055.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 others(10): Show a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0027g0268	13	337	0.0386	26	c.-26 others(47): Show c.-261+14582_-261+14583insGCGCACACACACACACACACACAC AC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485091	A A	ACACACAC others(19): Show ACACACACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	338	0.0030	26	c.-26 others(47): Show c.-261+14582_-261+14583insGCGCGCACACACACACACACACAC AC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69538197	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01346.hp2 others(7): Show HG00558.hp2 HG00735.hp2 HG01346.hp2 HG02135.hp1 HG02896.hp2 NA18612.hp2 NA18946.hp1 NA18991.hp1 NA18998.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0002t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0007	a0001c0001t0013g0153 a0001c0002t0001g0118 a0001c0002t0001g0125 others(7): Show a0001c0001t0013g0153 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0007g0154	10	186	0.0538	26	c.-12 others(45): Show c.-122+6142_-122+6167dupTATATATATATATATATATATATATA	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48592081	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	271	0.0037	26	c.133 others(45): Show c.1336-1252_1336-1251insATATATATATATATATATATATATAT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	16/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48592082	T T	TAATATAT others(19): Show TAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0011 a0001c0025t0011	a0001c0025t0011g0206 a0001c0025t0011g0206	1	8	0.1250	26	c.133 others(45): Show c.1336-1253_1336-1252insTATATATATATATATATATATATATT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	16/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48592082	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03098.hp1 HG03453.hp2 others(12): Show HG02897.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp1 HG03927.hp2 NA18522.hp1 NA18954.hp2 NA18965.hp2 NA18970.hp2 NA18980.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19030.hp2 NA19056.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0018	a0001c0002 a0001c0006 a0002c0004 others(2): Show a0001c0002 a0001c0006 a0002c0004 a0015c0017 a0018c0018	a0001c0002t0001 a0001c0002t0003 a0001c0006t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0006t0001 a0002c0004t0001 a0015c0017t0001 a0018c0018t0001	a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 others(12): Show a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0042 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0003g0076 a0001c0006t0001g0005 a0002c0004t0001g0214 a0015c0017t0001g0084 a0018c0018t0001g0078	15	22	0.6818	26	c.133 others(45): Show c.1336-1278_1336-1253dupTATATATATATATATATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	16/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG02145.hp1 others(4): Show HG00438.hp2 HG00558.hp1 HG02145.hp1 HG03540.hp2 NA18939.hp2 NA18974.hp1 NA18983.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0004 a0017c0033 a0001c0001 a0002c0004 a0017c0033	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0017c0033t0002	a0001c0001t0001g0123 a0001c0001t0001g0189 a0001c0001t0001g0198 others(4): Show a0001c0001t0001g0123 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0002g0263 a0001c0001t0002g0275 a0002c0004t0001g0213 a0017c0033t0002g0271	7	16	0.4375	26	c.-80 others(45): Show c.-80-10660_-80-10635dupTATATATATATATATATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FSD1L_chr9_105443034_105557433	105481141	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	155	0.0065	26	c.464 others(43): Show c.464+1778_464+1803dupTGTGTGTGTGTGTGTGTGTGTGTGTG	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results