Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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	status	chr	external
FGD1_chrX_54440454_54501234	54448910	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0013 a0004c0007t0011g0013	1	264	0.0038	1	c.233 others(10): Show c.2331_2332insG	p.Ser others(5): Show p.Ser778fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	16/18	3133/4343	2331/2886	777/961		chrX	TogoVar
FGD1_chrX_54440454_54501234	54449175	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0013 a0004c0007t0011g0013	1	264	0.0038	1	c.224 others(5): Show c.2241dupC	p.Lys others(5): Show p.Lys748fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	15/18	3043/4343	2241/2886	747/961		chrX	TogoVar
FGD1_chrX_54440454_54501234	54449242	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0013 a0004c0007t0011g0013	1	264	0.0038	1	c.217 others(5): Show c.2174dupC	p.Thr others(5): Show p.Thr726fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	15/18	2976/4343	2174/2886	725/961		chrX	TogoVar
FGD1_chrX_54440454_54501234	54449660	GGA GGA	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0143 a0003c0005t0001g0143	1	264	0.0038	-2	c.214 others(11): Show c.2145_2146delTC	p.Pro others(5): Show p.Pro716fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	14/18	2948/4343	2145/2886	715/961		chrX	TogoVar
FGD1_chrX_54440454_54501234	54449720	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0013 a0004c0007t0011g0013	1	264	0.0038	1	c.208 others(5): Show c.2086dupG	p.Glu others(5): Show p.Glu696fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	14/18	2888/4343	2086/2886	696/961		chrX	TogoVar
FGD1_chrX_54440454_54501234	54470714	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19005.hp1 NA19005.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0141 a0005c0008t0001g0141	1	264	0.0038	1	c.527 others(4): Show c.527dupC	p.Leu others(5): Show p.Leu177fs	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	3/18	1329/4343	527/2886	176/961		chrX	TogoVar
FGF11_chr17_7434512_7449937	7442621	AAGGAGTG others(13): Show AAGGAGTGTGTCTTTGAGAAT	A A	frameshift_variant frameshift_variant	HIGH	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0001 a0003c0005t0011g0001	1	350	0.0029	-20	c.437 others(27): Show c.437_456delAGGAGTGTGTCTTTGAGAAT	p.Lys others(5): Show p.Lys146fs	FGF11	ENSG00000161958.11	transcript	ENST00000293829.9	protein_coding	4/5	546/2578	437/678	146/225		chr17	TogoVar
FGF13_chrX_138609727_138716717	138632981	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0108 a0002c0002t0108	a0002c0002t0108g0024 a0002c0002t0108g0024	1	240	0.0042	-1	c.606 others(4): Show c.606delC	p.Met others(5): Show p.Met203fs	FGF13	ENSG00000129682.16	transcript	ENST00000315930.11	protein_coding	5/5	1320/19575	606/738	202/245		chrX	TogoVar
FGF16_chrX_77442389_77462278	77447834	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0041 a0003c0003t0004g0041	1	309	0.0032	-1	c.163 others(4): Show c.163delC	p.His others(4): Show p.His55fs	FGF16	ENSG00000196468.8	transcript	ENST00000439435.3	protein_coding	1/3	449/1666	163/624	55/207	INFO_REALIGN_3_PRIME	chrX	TogoVar
FGF17_chr8_22037820_22053809	22046603	TATGAACA others(10): Show TATGAACAAGAGGGGCAA	T T	frameshift_variant frameshift_variant	HIGH	NA18969.hp1 NA18969.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0077 a0000c0005t0001g0077	1	454	0.0022	-17	c.328 others(24): Show c.328_344delATGAACAAGAGGGGCAA	p.Met others(5): Show p.Met110fs	FGF17	ENSG00000158815.11	transcript	ENST00000359441.4	protein_coding	4/5	437/1320	328/651	110/216		chr8	TogoVar
FGF22_chr19_634879_649373	643527	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(26): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01175.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG02615.hp1 HG02897.hp2 HG03654.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18950.hp1 NA18953.hp1 NA18967.hp2 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19090.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 others(3): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0007 a0000c0002t0009 a0000c0002t0010	a0000c0002t0001g0001 a0000c0002t0001g0004 a0000c0002t0001g0035 others(15): Show a0000c0002t0001g0001 a0000c0002t0001g0004 a0000c0002t0001g0035 a0000c0002t0001g0038 a0000c0002t0001g0083 a0000c0002t0001g0091 a0000c0002t0001g0100 a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0008 a0000c0002t0002g0028 a0000c0002t0002g0036 a0000c0002t0002g0040 a0000c0002t0002g0076 a0000c0002t0004g0011 a0000c0002t0007g0007 a0000c0002t0009g0103 a0000c0002t0010g0016	29	434	0.0668	1	c.444 others(4): Show c.444dupG	p.Pro others(5): Show p.Pro149fs	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	3/3	492/1329	445/513	149/170	INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF3_chr11_69804968_69824416	69810674	A A	AAACTCGC others(6): Show AAACTCGCACTCGG	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0101 a0002c0005t0001g0101	1	422	0.0024	13	c.338 others(20): Show c.338_350dupCCGAGTGCGAGTT	p.Val others(5): Show p.Val118fs	FGF3	ENSG00000186895.4	transcript	ENST00000334134.4	protein_coding	3/3	833/1540	350/720	117/239		chr11	TogoVar
FGFBP3_chr10_91901584_91914486	91908779	A A	AGGAGCTG others(25): Show AGGAGCTGCCAGCTGCACGCGTGCTGCTCGGGG	frameshift_variant frameshift_variant	HIGH	HG03239.hp2 HG03239.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0019 a0008c0007t0001g0019	1	416	0.0024	32	c.159 others(39): Show c.159_190dupCCCCGAGCAGCACGCGTGCAGCTGGCAGCTCC	p.Leu others(4): Show p.Leu64fs	FGFBP3	ENSG00000174721.10	transcript	ENST00000311575.6	protein_coding	2/2	357/2553	190/777	64/258		chr10	TogoVar
FGFR3_chr4_1788293_1813867	1799521	CAGGTGAG others(24): Show CAGGTGAGCTCTGGGGCCACGCCAGCTACAGA	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0162 a0008c0022t0001g0162	1	380	0.0026	-31	c.379 others(41): Show c.379_379+30delGGTGAGCTCTGGGGCCACGCCAGCTACAGAA	p.Asp others(5): Show p.Asp127fs	FGFR3	ENSG00000068078.20	transcript	ENST00000440486.8	protein_coding	3/18	654/4301	379/2421	127/806	INFO_REALIGN_3_PRIME	chr4	TogoVar
FHAD1_chr1_15242223_15403328	15391209	G G	GAGACGAG others(16): Show GAGACGAGTATTTGTAGAGATGGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp1 HG03704.hp1	a0049 a0049	a0049c0052 a0049c0052	a0049c0052t0004 a0049c0052t0004	a0049c0052t0004g0120 a0049c0052t0004g0120	1	294	0.0034	23	c.427 others(32): Show c.4270_4292dupAGACGAGTATTTGTAGAGATGGT	p.Lys others(6): Show p.Lys1432fs	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	33/34	4480/5542	4293/4440	1431/1479	INFO_REALIGN_3_PRIME	chr1	TogoVar
FHL1_chrX_136142533_136216354	136207837	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0018 a0002c0003t0006g0018	1	212	0.0047	1	c.378 others(4): Show c.378dupC	p.Phe others(5): Show p.Phe127fs	FHL1	ENSG00000022267.19	transcript	ENST00000394155.8	protein_coding	5/8	575/2568	379/972	127/323	INFO_REALIGN_3_PRIME	chrX	TogoVar
FHL1_chrX_136192047_136216354	136207837	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0037 a0004c0003t0001g0037	1	296	0.0034	1	c.426 others(4): Show c.426dupC	p.Phe others(5): Show p.Phe143fs	FHL1	ENSG00000022267.19	transcript	ENST00000370683.6	protein_coding	4/6	493/2286	427/891	143/296	INFO_REALIGN_3_PRIME	chrX	TogoVar
FLG_chr1_152297165_152330239	152306864	T T	TTGTCCGT others(1942): Show TTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGT GGTGGGATCCATGTCTGTCTCCTGCACTTGATCTTGCCTGTTCATGGGAT GATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTG TCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGG ACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGA TGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCC CTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCC TGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCG GCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTC TCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTG ACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGA TGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCC CTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGAC CGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGG GATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTC AGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAG ACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGG GACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGA ATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCAC TGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTG GAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTGTCTCCTGCACT TGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCT GTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGA CCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAG CTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACC TCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTG GATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGC CTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCG ACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTT CTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCC CTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTA CCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGG TGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCT GTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCC CCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAG AGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGA CTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTG ACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTA CCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp1 HG02717.hp1	a0098 a0098	a0098c0108 a0098c0108	a0098c0108t0001 a0098c0108t0001	a0098c0108t0001g0196 a0098c0108t0001g0196	1	426	0.0024	1949	c.802 others(1958): Show c.8021_8022insGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACAC CGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGA CTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGC AGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACAT TCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTC CCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATG AGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGAC ACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCA CCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCC ACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCC AGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCAGGAGACGGCTC CAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCATGCCGACATCT CTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGC AGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGTGAGGGACATTC AGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAACCATCATGGAT CTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCAGGTCCCATCAA GAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCCAGACAATCAGG CACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGCATCATCCCATG AACAGGCAAGATCAAGTGCAGGAGACAGACATGGATCCCACCACCAGCAG TCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATC TGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTG ACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCAC GGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCG GTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCA CTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGA GGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTC AGCATCCCAAGACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCA GAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGA CACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGC CTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATG AGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAA GCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACA ATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGG ACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCT GCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTC CAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTG CAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGT GGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGACAG ACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCA TTGGGCACGGACA	p.Ala others(6): Show p.Ala2675fs	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8093/12793	8021/12186	2674/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152312392	A A	AGTGCCTG others(10): Show AGTGCCTGGAGTTGTCTC	frameshift_variant frameshift_variant	HIGH	HG03017.hp1 HG03017.hp1	a0079 a0079	a0079c0072 a0079c0072	a0079c0072t0001 a0079c0072t0001	a0079c0072t0001g0209 a0079c0072t0001g0209	1	426	0.0024	17	c.247 others(26): Show c.2477_2493dupGAGACAACTCCAGGCAC	p.Ser others(5): Show p.Ser832fs	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	2565/12793	2493/12186	831/4061		chr1	TogoVar
FLNA_chrX_154343531_154379634	154348892	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0000 a0000	a0000c0033 a0000c0033	a0000c0033t0001 a0000c0033t0001	a0000c0033t0001g0100 a0000c0033t0001g0100	1	279	0.0036	1	c.790 others(5): Show c.7900dupG	p.Asp others(6): Show p.Asp2634fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	48/48	8145/8507	7900/7944	2634/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154348892	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0065 a0014c0034t0001g0065	1	279	0.0036	-1	c.790 others(5): Show c.7900delG	p.Asp others(6): Show p.Asp2634fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	48/48	8145/8507	7900/7944	2634/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154349012	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0065 a0014c0034t0001g0065	1	279	0.0036	-1	c.778 others(5): Show c.7780delG	p.Val others(6): Show p.Val2594fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	48/48	8025/8507	7780/7944	2594/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154349481	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0011 a0013c0032t0011	a0013c0032t0011g0191 a0013c0032t0011g0191	1	279	0.0036	-1	c.763 others(5): Show c.7636delC	p.Gln others(6): Show p.Gln2546fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	47/48	7881/8507	7636/7944	2546/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154350977	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0065 a0014c0034t0001g0065	1	279	0.0036	1	c.708 others(5): Show c.7087dupG	p.Ala others(6): Show p.Ala2363fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	44/48	7332/8507	7087/7944	2363/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154353351	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18951.hp1 NA18951.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0002 a0016c0030t0002	a0016c0030t0002g0173 a0016c0030t0002g0173	1	279	0.0036	-1	c.596 others(5): Show c.5966delC	p.Pro others(6): Show p.Pro1989fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	37/48	6211/8507	5966/7944	1989/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154353572	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.584 others(5): Show c.5841delC	p.Phe others(6): Show p.Phe1948fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	36/48	6086/8507	5841/7944	1947/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354188	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	1	c.551 others(10): Show c.5519_5520insG	p.His others(6): Show p.His1840fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5764/8507	5519/7944	1840/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354194	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.551 others(5): Show c.5513delG	p.Gly others(6): Show p.Gly1838fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5758/8507	5513/7944	1838/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354198	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.550 others(5): Show c.5509delG	p.Ala others(6): Show p.Ala1837fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5754/8507	5509/7944	1837/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354245	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.546 others(5): Show c.5462delC	p.Thr others(6): Show p.Thr1821fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5707/8507	5462/7944	1821/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354254	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	1	c.545 others(10): Show c.5453_5454insG	p.Thr others(6): Show p.Thr1819fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5698/8507	5453/7944	1818/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354261	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.544 others(5): Show c.5446delG	p.Ala others(6): Show p.Ala1816fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	34/48	5691/8507	5446/7944	1816/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154354406	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18992.hp2 NA18992.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0002 a0018c0027t0002	a0018c0027t0002g0192 a0018c0027t0002g0192	1	279	0.0036	-1	c.539 others(5): Show c.5390delT	p.Phe others(6): Show p.Phe1797fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	33/48	5635/8507	5390/7944	1797/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154355055	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0068 a0005c0016t0001g0068	1	279	0.0036	1	c.498 others(5): Show c.4986dupC	p.Thr others(6): Show p.Thr1663fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	31/48	5231/8507	4986/7944	1662/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154357573	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0064 a0011c0026t0001g0064	1	279	0.0036	-1	c.480 others(5): Show c.4805delG	p.Gly others(6): Show p.Gly1602fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	29/48	5050/8507	4805/7944	1602/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154358212	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0068 a0005c0016t0001g0068	1	279	0.0036	-1	c.474 others(5): Show c.4741delG	p.Ala others(6): Show p.Ala1581fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	28/48	4986/8507	4741/7944	1581/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154359012	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0062 a0010c0024t0001g0062	1	279	0.0036	-1	c.444 others(5): Show c.4445delC	p.Pro others(6): Show p.Pro1482fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	26/48	4690/8507	4445/7944	1482/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154359608	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0068 a0005c0016t0001g0068	1	279	0.0036	1	c.401 others(5): Show c.4017dupC	p.Val others(6): Show p.Val1340fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	24/48	4262/8507	4017/7944	1339/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154361546	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	-1	c.296 others(5): Show c.2968delG	p.Glu others(5): Show p.Glu990fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	21/48	3213/8507	2968/7944	990/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154361552	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	1	c.296 others(5): Show c.2962dupG	p.Asp others(5): Show p.Asp988fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	21/48	3207/8507	2962/7944	988/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154361674	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	1	c.293 others(5): Show c.2939dupG	p.Glu others(5): Show p.Glu981fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	20/48	3184/8507	2939/7944	980/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154361723	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	1	c.289 others(5): Show c.2890dupG	p.Ala others(5): Show p.Ala964fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	20/48	3135/8507	2890/7944	964/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362124	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	1	c.268 others(5): Show c.2680dupC	p.His others(5): Show p.His894fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	19/48	2925/8507	2680/7944	894/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362134	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	1	c.267 others(5): Show c.2670dupC	p.Lys others(5): Show p.Lys891fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	19/48	2915/8507	2670/7944	890/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362276	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.262 others(5): Show c.2621delA	p.Lys others(5): Show p.Lys874fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	18/48	2866/8507	2621/7944	874/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362429	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	-1	c.255 others(5): Show c.2553delC	p.Phe others(5): Show p.Phe852fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	17/48	2798/8507	2553/7944	851/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362547	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	1	c.243 others(5): Show c.2435dupC	p.Gly others(5): Show p.Gly813fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	17/48	2680/8507	2435/7944	812/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154362705	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0148 a0020c0019t0006g0148	1	279	0.0036	-1	c.235 others(5): Show c.2359delC	p.His others(5): Show p.His787fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	16/48	2604/8507	2359/7944	787/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154364066	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.223 others(5): Show c.2235delC	p.Met others(5): Show p.Met746fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	15/48	2480/8507	2235/7944	745/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154364140	GCCTCCAC others(1): Show GCCTCCACA	G G	frameshift_variant frameshift_variant	HIGH	NA18957.hp2 NA18957.hp2	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0001 a0021c0042t0001	a0021c0042t0001g0098 a0021c0042t0001g0098	1	279	0.0036	-8	c.215 others(17): Show c.2154_2161delTGTGGAGG	p.Glu others(5): Show p.Glu720fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	15/48	2406/8507	2154/7944	718/2647		chrX	TogoVar

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