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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
FOXP1_chr3_70949708_71588728	71091129	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04199.hp2 HG01516.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0039 a0001c0001t0011g0001 a0001c0001t0008g0039 a0001c0001t0011g0001	2	96	0.0208	26	c.282 others(45): Show c.282+21406_282+21407insTACACACACACACACACACACACACA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	7/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71406403	G G	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03704.hp2 NA18522.hp1 HG02055.hp1 HG03704.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0035 a0001c0001t0069 a0001c0001t0008 a0001c0001t0035 a0001c0001t0069	a0001c0001t0008g0036 a0001c0001t0035g0082 a0001c0001t0069g0027 a0001c0001t0008g0036 a0001c0001t0035g0082 a0001c0001t0069g0027	3	96	0.0313	26	c.-16 others(47): Show c.-167-47160_-167-47159insTATATATATATATATATATATACA TA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP2_chr7_114409815_114698765	114419713	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0169 a0001c0001t0016g0169	1	174	0.0058	26	c.-11 others(43): Show c.-11+4362_-11+4387dupACACACACACACACACACACACACAC	FOXP2	ENSG00000128573.28	transcript	ENST00000350908.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXP4_chr6_41541381_41607384	41570079	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03225.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0015 a0001c0002t0002 a0001c0004t0015	a0001c0002t0002g0057 a0001c0004t0015g0252 a0001c0004t0015g0254 a0001c0002t0002g0057 a0001c0004t0015g0252 a0001c0004t0015g0254	3	356	0.0084	26	c.204 others(43): Show c.204+4128_204+4153dupACACACACACACACACACACACACAC	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
FRAS1_chr4_78052323_78549269	78065081	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0063 a0063	a0063c0085 a0063c0085	a0063c0085t0001 a0063c0085t0001	a0063c0085t0001g0089 a0063c0085t0001g0089	1	178	0.0056	26	c.77- others(39): Show c.77-901_77-900insTATATATATATATACACACACACATA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78065081	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp1 HG03239.hp2 others(3): Show HG02280.hp1 HG03225.hp1 HG03239.hp2 HG04199.hp2 NA18983.hp2 NA19030.hp1	a0005 a0006 a0008 others(3): Show a0005 a0006 a0008 a0024 a0076 a0077	a0005c0004 a0006c0016 a0008c0006 others(3): Show a0005c0004 a0006c0016 a0008c0006 a0024c0024 a0076c0094 a0077c0108	a0005c0004t0003 a0006c0016t0008 a0008c0006t0042 others(3): Show a0005c0004t0003 a0006c0016t0008 a0008c0006t0042 a0024c0024t0001 a0076c0094t0001 a0077c0108t0001	a0005c0004t0003g0077 a0006c0016t0008g0111 a0008c0006t0042g0109 others(3): Show a0005c0004t0003g0077 a0006c0016t0008g0111 a0008c0006t0042g0109 a0024c0024t0001g0113 a0076c0094t0001g0110 a0077c0108t0001g0078	6	178	0.0337	26	c.77- others(39): Show c.77-901_77-900insTATATATATATATATACACACACATA	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78140658	T T	TATATACA others(19): Show TATATACATATGTGTATATGTATATGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18950.hp2 HG02056.hp2 NA18950.hp2	a0010 a0084 a0010 a0084	a0010c0071 a0084c0097 a0010c0071 a0084c0097	a0010c0071t0001 a0084c0097t0001 a0010c0071t0001 a0084c0097t0001	a0010c0071t0001g0003 a0084c0097t0001g0004 a0010c0071t0001g0003 a0084c0097t0001g0004	2	178	0.0112	26	c.108 others(45): Show c.108+74662_108+74687dupTATATGCATATACATATGTGTATATG	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
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	178	0.0112	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 a0018 a0061 a0003 a0018 a0061	a0003c0002 a0018c0090 a0061c0083 a0003c0002 a0018c0090 a0061c0083	a0003c0002t0001 a0003c0002t0002 a0018c0090t0033 others(1): Show a0003c0002t0001 a0003c0002t0002 a0018c0090t0033 a0061c0083t0041	a0003c0002t0001g0060 a0003c0002t0002g0012 a0018c0090t0033g0163 others(1): Show a0003c0002t0001g0060 a0003c0002t0002g0012 a0018c0090t0033g0163 a0061c0083t0041g0112	4	178	0.0225	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	346	0.0058	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	346	0.0029	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 a0040 a0067 a0006 a0040 a0067	a0006c0014 a0040c0136 a0040c0185 others(1): Show a0006c0014 a0040c0136 a0040c0185 a0067c0165	a0006c0014t0001 a0040c0136t0001 a0040c0185t0002 others(1): Show a0006c0014t0001 a0040c0136t0001 a0040c0185t0002 a0067c0165t0006	a0006c0014t0001g0087 a0006c0014t0001g0108 a0006c0014t0001g0109 others(3): Show a0006c0014t0001g0087 a0006c0014t0001g0108 a0006c0014t0001g0109 a0040c0136t0001g0093 a0040c0185t0002g0243 a0067c0165t0006g0069	6	346	0.0173	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	a0039 a0113 a0039 a0113	a0039c0137 a0113c0140 a0039c0137 a0113c0140	a0039c0137t0004 a0113c0140t0001 a0039c0137t0004 a0113c0140t0001	a0039c0137t0004g0057 a0113c0140t0001g0211 a0039c0137t0004g0057 a0113c0140t0001g0211	2	346	0.0058	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	346	0.0029	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	a0017 a0018 a0023 others(2): Show a0017 a0018 a0023 a0027 a0089	a0017c0019 a0017c0102 a0018c0106 others(5): Show a0017c0019 a0017c0102 a0018c0106 a0018c0226 a0023c0133 a0027c0034 a0027c0105 a0089c0132	a0017c0019t0001 a0017c0102t0001 a0018c0106t0001 others(5): Show a0017c0019t0001 a0017c0102t0001 a0018c0106t0001 a0018c0226t0002 a0023c0133t0001 a0027c0034t0001 a0027c0105t0001 a0089c0132t0003	a0017c0019t0001g0142 a0017c0019t0001g0143 a0017c0102t0001g0271 others(6): Show a0017c0019t0001g0142 a0017c0019t0001g0143 a0017c0102t0001g0271 a0018c0106t0001g0290 a0018c0226t0002g0123 a0023c0133t0001g0333 a0027c0034t0001g0182 a0027c0105t0001g0303 a0089c0132t0003g0296	9	346	0.0260	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	a0085 a0085	a0085c0202 a0085c0202	a0085c0202t0002 a0085c0202t0002	a0085c0202t0002g0137 a0085c0202t0002g0137	1	346	0.0029	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	a0086 a0086	a0086c0128 a0086c0128	a0086c0128t0001 a0086c0128t0001	a0086c0128t0001g0036 a0086c0128t0001g0036	1	346	0.0029	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	a0045 a0045	a0045c0058 a0045c0058	a0045c0058t0004 a0045c0058t0004	a0045c0058t0004g0101 a0045c0058t0004g0101	1	346	0.0029	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	262	0.0115	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	410	0.0024	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	242	0.0041	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	242	0.0083	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	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0021 a0004c0007t0021	a0004c0007t0021g0013 a0004c0007t0021g0013	1	242	0.0041	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	242	0.0041	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	134	0.0075	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	134	0.0448	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	134	0.0075	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	134	0.0075	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	134	0.0075	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	134	0.0224	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	134	0.0075	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	134	0.0224	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	a0001c0001t0040 a0002c0002t0021 a0001c0001t0040 a0002c0002t0021	a0001c0001t0040g0061 a0002c0002t0021g0182 a0001c0001t0040g0061 a0002c0002t0021g0182	2	224	0.0089	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	a0002c0002t0041 a0004c0006t0007 a0002c0002t0041 a0004c0006t0007	a0002c0002t0041g0201 a0004c0006t0007g0073 a0002c0002t0041g0201 a0004c0006t0007g0073	2	224	0.0089	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	146	0.0069	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	a0003c0004t0004g0120 a0003c0004t0004g0120	1	209	0.0048	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	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	366	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	a0002c0002t0003g0099 a0003c0016t0001g0217 a0002c0002t0003g0099 a0003c0016t0001g0217	2	250	0.0080	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	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0005 a0008c0010t0001g0005	1	250	0.0040	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	a0001c0001t0002g0022 a0001c0001t0002g0022	1	174	0.0058	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	174	0.0058	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	a0001c0001t0001g0035 a0001c0007t0001g0086 a0002c0004t0001g0007 others(2): Show a0001c0001t0001g0035 a0001c0007t0001g0086 a0002c0004t0001g0007 a0002c0005t0001g0067 a0002c0011t0001g0039	5	174	0.0287	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	a0001c0001t0002g0156 a0001c0002t0001g0162 a0001c0001t0002g0156 a0001c0002t0001g0162	2	174	0.0115	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	a0001c0001t0002g0156 a0001c0001t0002g0156	1	174	0.0058	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	a0002c0004t0001g0027 a0002c0004t0001g0027	1	174	0.0058	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	a0001c0001t0023 a0001c0001t0062 a0001c0001t0023 a0001c0001t0062	a0001c0001t0023g0299 a0001c0001t0023g0303 a0001c0001t0023g0305 others(2): Show a0001c0001t0023g0299 a0001c0001t0023g0303 a0001c0001t0023g0305 a0001c0001t0023g0306 a0001c0001t0062g0296	5	430	0.0116	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	a0001c0001t0002g0284 a0001c0001t0002g0284	1	342	0.0029	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	342	0.0029	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	342	0.0380	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

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