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
FRYL_chr4_48492357_48785279	48645122	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	282	0.0036	22	c.-80 others(41): Show c.-80-10633_-80-10632insTATATATATATATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01928.hp2 NA18747.hp2 others(3): Show HG00735.hp2 HG01928.hp2 NA18747.hp2 NA18980.hp1 NA19043.hp2 NA21309.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0027 a0001c0001 a0017c0027	a0001c0001t0001 a0017c0027t0001 a0001c0001t0001 a0017c0027t0001	a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0169 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0246 a0017c0027t0001g0210	6	282	0.0213	22	c.-80 others(41): Show c.-80-10656_-80-10635dupTATATATATATATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRY_chr13_32026774_32304125	32032023	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 NA19030.hp2 HG02109.hp1 HG02896.hp2 NA19030.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0054 a0002c0018 a0009c0057 a0001c0054 a0002c0018 a0009c0057	a0001c0054t0001 a0002c0018t0011 a0009c0057t0006 a0001c0054t0001 a0002c0018t0011 a0009c0057t0006	a0001c0054t0001g0233 a0002c0018t0011g0234 a0009c0057t0006g0232 a0001c0054t0001g0233 a0002c0018t0011g0234 a0009c0057t0006g0232	3	236	0.0127	22	c.70+ others(35): Show c.70+159_70+160insCTTTCTTTCTTTCTTTCTTTCT	FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	1/60		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRY_chr13_32026774_32304125	32245721	G G	GGCCATGG others(15): Show GGCCATGGGAGTAGTGCAGGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01167.hp1 others(18): Show HG00323.hp2 HG00735.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp1 HG03239.hp1 HG03831.hp2 NA19056.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0006 a0002c0011 others(4): Show a0002c0003 a0002c0006 a0002c0011 a0002c0012 a0002c0028 a0002c0030 a0005c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(10): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0011t0002 a0002c0012t0002 a0002c0028t0006 a0002c0030t0016 a0005c0016t0004	a0002c0003t0001g0055 a0002c0003t0001g0165 a0002c0003t0001g0166 others(18): Show a0002c0003t0001g0055 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0002g0112 a0002c0003t0002g0117 a0002c0003t0005g0201 a0002c0003t0011g0114 a0002c0006t0001g0087 a0002c0006t0001g0088 a0002c0006t0001g0184 a0002c0006t0002g0085 a0002c0006t0002g0086 a0002c0006t0002g0183 a0002c0006t0003g0121 a0002c0006t0004g0047 a0002c0011t0002g0168 a0002c0012t0002g0186 a0002c0028t0006g0033 a0002c0030t0016g0155 a0005c0016t0004g0043 a0005c0016t0004g0048	21	236	0.0890	22	c.682 others(41): Show c.6828+1540_6828+1561dupGCCATGGGAGTAGTGCAGGGCC	FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	47/60		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRY_chr13_32026774_32304125	32268503	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	236	0.0042	22	c.813 others(41): Show c.8136+1145_8136+1146insTATATATATATATATATATATA	FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	55/60		INFO_REALIGN_3_PRIME	chr13	TogoVar
FSCN2_chr17_81523377_81542130	81525425	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0028 a0001c0007t0001g0028	1	432	0.0023	22	c.-31 others(33): Show c.-3107_-3106insAAAAAAAAAAAAAAAAAAAAAA	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding		2951		chr17	TogoVar
FSD1L_chr9_105443034_105557433	105481141	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02040.hp2 HG00323.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0036 a0001c0001t0009g0197 a0001c0001t0002g0036 a0001c0001t0009g0197	2	380	0.0053	22	c.464 others(39): Show c.464+1782_464+1803dupTGTGTGTGTGTGTGTGTGTGTG	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02615.hp1 others(5): Show HG00558.hp1 HG02074.hp1 HG02615.hp1 HG02809.hp1 HG02965.hp2 NA18522.hp1 NA18963.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0001t0032	a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0001t0002g0059 others(5): Show a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0007g0194 a0001c0001t0022g0170 a0001c0001t0022g0173 a0001c0001t0032g0163	8	380	0.0211	22	c.102 others(41): Show c.1026-1074_1026-1053dupTTTTTTTTTTTTTTTTTTTTTT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSD2_chr15_82750362_82811069	82778127	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp2 others(2): Show HG01070.hp1 HG01071.hp2 HG01261.hp2 HG02647.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0031 a0001c0001t0002 a0001c0001t0024 a0001c0001t0031	a0001c0001t0002g0274 a0001c0001t0024g0374 a0001c0001t0024g0375 others(2): Show a0001c0001t0002g0274 a0001c0001t0024g0374 a0001c0001t0024g0375 a0001c0001t0024g0376 a0001c0001t0031g0218	5	384	0.0130	22	c.111 others(39): Show c.1111+617_1111+638dupATATATATATATATATATATAT	FSD2	ENSG00000186628.12	transcript	ENST00000334574.12	protein_coding	6/12			chr15	TogoVar
FSHR_chr2_48957157_49159515	49013497	T T	TATAAATA others(15): Show TATAAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02559.hp1 others(3): Show HG01891.hp1 HG02145.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp1 NA19030.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0002 a0003c0003t0001 a0005c0005t0002	a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0161 others(3): Show a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0005c0005t0002g0018	6	350	0.0171	22	c.374 others(39): Show c.374+3991_374+3992insTTATATATATATATATATTTAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	4/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021831	T T	TTTTCTCT others(15): Show TTTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	350	0.0029	22	c.225 others(39): Show c.225-1672_225-1671insGAGAGAGAGAGAGAGAGAGAAA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021861	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	350	0.0029	22	c.225 others(39): Show c.225-1702_225-1701insTATATATATATATATATATATA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0161 a0003c0003t0001g0161	1	350	0.0029	22	c.225 others(39): Show c.225-1704_225-1703insTATATATATATATAGAGAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	350	0.0029	22	c.225 others(39): Show c.225-1704_225-1703insTATATATATAGAGAGAGAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0172 a0002c0006t0001g0172	1	350	0.0029	22	c.225 others(39): Show c.225-1727_225-1726insCTCTCTCTCTCTCTATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02630.hp1 HG02897.hp2 HG02135.hp2 HG02630.hp1 HG02897.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0004c0004t0002 a0005c0005t0002 a0001c0001t0001 a0004c0004t0002 a0005c0005t0002	a0001c0001t0001g0144 a0004c0004t0002g0133 a0005c0005t0002g0018 a0001c0001t0001g0144 a0004c0004t0002g0133 a0005c0005t0002g0018	3	350	0.0086	22	c.225 others(39): Show c.225-1727_225-1726insCTCTCTCTCTATATATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0132 a0004c0004t0002g0132	1	350	0.0029	22	c.225 others(39): Show c.225-1727_225-1726insCTCTCTATATATATATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSIP1_chr15_39595031_39787841	39744777	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18981.hp1 NA18998.hp1 others(1): Show HG02165.hp2 NA18981.hp1 NA18998.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0233	4	254	0.0158	22	c.560 others(39): Show c.560-2899_560-2878dupTGTGTGTGTGTGTGTGTGTGTG	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	5/11			chr15	TogoVar
FSIP1_chr15_39595031_39787841	39749263	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0010 a0006c0006t0003 a0006c0006t0010	a0006c0006t0003g0249 a0006c0006t0010g0251 a0006c0006t0003g0249 a0006c0006t0010g0251	2	254	0.0079	22	c.560 others(39): Show c.560-7364_560-7363insTTTTTTTTTTTTTTTTTTTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	5/11			chr15	TogoVar
FSTL3_chr19_671392_688385	675681	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG02055.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0042 a0001c0001t0013g0042	2	434	0.0046	22	c.-74 others(31): Show c.-743_-742insCACACACACACACACACACACA	FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding		710		chr19	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02738.hp2 HG01167.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0040 a0002c0002t0005g0010 a0002c0002t0002g0040 a0002c0002t0005g0010	2	176	0.0114	22	c.409 others(41): Show c.409+25446_409+25447insATATATATATATATATATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517437	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0158 a0001c0001t0013g0158	1	176	0.0057	22	c.160 others(41): Show c.160+49748_160+49749insATATATATATATATATATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	176	0.0057	22	c.160 others(41): Show c.160+49738_160+49739insATATATATATATATTTTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133541927	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	176	0.0057	22	c.160 others(41): Show c.160+25237_160+25258dupGTGTGTGTGTGTGTGTGTGTGT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	142	0.0070	22	c.184 others(43): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161556844	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20805.hp2 HG01192.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0058 a0001c0002t0001g0044 a0001c0001t0001g0058 a0001c0002t0001g0044	2	142	0.0141	22	c.101 others(43): Show c.1016-14152_1016-14151insTATATATATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	8/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161695424	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0013	1	142	0.0070	22	c.728 others(41): Show c.728-38952_728-38931dupACACACACACACACACACACAC	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162066298	T T	TTTTCTTC others(15): Show TTTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	142	0.0070	22	c.127 others(41): Show c.127-32662_127-32641dupGAAGAAGAAGAAGAAGAAGAAA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	2/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162066299	T T	TTTCTTCT others(15): Show TTTCTTCTTCTTCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02109.hp2 HG02615.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0042 a0005c0007t0001g0094 a0001c0001t0001g0042 a0005c0007t0001g0094	2	142	0.0141	22	c.127 others(41): Show c.127-32642_127-32641insGAAAGAAGAAGAAGAAGAAGAA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	2/15			chr4	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp2 others(58): Show HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG02109.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03831.hp2 HG03942.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18980.hp2 NA18994.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19084.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0072 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0004g0014 a0001c0001t0010g0070	61	462	0.1320	22	c.-47 others(33): Show c.-4757_-4756insTATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01516.hp1 others(2): Show HG00642.hp1 HG01167.hp2 HG01516.hp1 HG01517.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0002g0049 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0002g0049 a0001c0002t0002g0003	5	462	0.0108	22	c.-47 others(33): Show c.-4757_-4756insTTTATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FTHL17_chrX_31066233_31077041	31066888	C C	CACACATG others(15): Show CACACATGTGTATATACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 NA18950.hp1 HG01261.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	336	0.0060	22	c.45 others(33): Show c.4513_*4514insATGTGTGTATATACACATGTGT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4344		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067493	T T	TATATATA others(15): Show TATATATACATATGTATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp2 NA18965.hp1 others(6): Show HG02257.hp2 HG03516.hp2 NA18965.hp1 NA18975.hp2 NA18987.hp2 NA18999.hp2 NA19003.hp1 NA19054.hp2 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0005 a0001c0002 a0002c0003 a0003c0005	a0001c0002t0001 a0002c0003t0001 a0003c0005t0001 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0002t0001g0000 a0002c0003t0001g0000 a0003c0005t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 a0003c0005t0001g0000	9	336	0.0268	22	c.39 others(33): Show c.3908_*3909insGTATATATACATATGTATATAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		3739		chrX	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02698.hp2 NA18962.hp2 HG00738.hp2 HG02698.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0036 a0001c0001t0005g0134 a0001c0001t0008g0161 a0001c0001t0003g0036 a0001c0001t0005g0134 a0001c0001t0008g0161	3	194	0.0155	22	c.136 others(43): Show c.1364+16049_1364+16070dupAAAAAAAAAAAAAAAAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG03654.hp2 others(3): Show HG02886.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp1 NA19056.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0002c0004t0001	a0001c0001t0002g0222 a0001c0001t0003g0248 a0001c0001t0005g0247 others(3): Show a0001c0001t0002g0222 a0001c0001t0003g0248 a0001c0001t0005g0247 a0001c0001t0014g0099 a0002c0004t0001g0269 a0002c0004t0001g0270	6	374	0.0160	22	c.-32 others(43): Show c.-326+20583_-326+20604dupTCTCTCTCTCTCTCTCTCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65439954	G G	GTGTACAT others(15): Show GTGTACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	374	0.0027	22	c.-32 others(43): Show c.-325-15666_-325-15665insGTACATATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65439954	G G	GTGTACGT others(15): Show GTGTACGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG00544.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0066 a0001c0001t0023g0049 a0001c0001t0002g0066 a0001c0001t0023g0049	2	374	0.0054	22	c.-32 others(43): Show c.-325-15666_-325-15665insGTACGTATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65439954	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18953.hp1 HG01884.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0093 a0001c0001t0025g0360 a0001c0001t0001g0093 a0001c0001t0025g0360	2	374	0.0054	22	c.-32 others(43): Show c.-325-15666_-325-15665insGTATATATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65439954	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18954.hp2 HG02698.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0266 a0002c0004t0001g0252 a0001c0001t0002g0266 a0002c0004t0001g0252	2	374	0.0054	22	c.-32 others(43): Show c.-325-15666_-325-15665insGTGTATATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01168.hp1 others(16): Show HG00323.hp2 HG00423.hp2 HG01168.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG02258.hp1 HG03209.hp2 HG03239.hp1 NA18946.hp1 NA18949.hp1 NA18961.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0003c0005t0001	a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0177 others(16): Show a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0039 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0004g0001 a0001c0001t0004g0006 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0006g0149 a0001c0001t0006g0163 a0003c0005t0001g0168 a0003c0005t0001g0169 a0003c0005t0001g0172 a0003c0005t0001g0186	19	374	0.0508	22	c.-22 others(43): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611260	C C	CCCCAAGT others(15): Show CCCCAAGTAATAGCCTTGATTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	374	0.0027	22	c.204 others(39): Show c.204-4718_204-4717insCCCAAGTAATAGCCTTGATTTT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10			chr14	TogoVar
FUT8_chr14_65407730_65749121	65643665	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	374	0.0027	22	c.597 others(41): Show c.597+14088_597+14109dupACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677151	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	374	0.0027	22	c.835 others(39): Show c.835+7672_835+7673insTGTGTGTGTGCGCGCGCGCGCG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677151	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	374	0.0027	22	c.835 others(39): Show c.835+7672_835+7673insTGTGTGTGTGTGTGTGCGCGCG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT9_chr6_96010974_96220612	96096684	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18967.hp1 NA18973.hp1 others(6): Show HG03017.hp1 NA18967.hp1 NA18973.hp1 NA18981.hp2 NA18995.hp2 NA19058.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0046	a0001c0001t0002g0307 a0001c0001t0005g0096 a0001c0001t0005g0152 others(6): Show a0001c0001t0002g0307 a0001c0001t0005g0096 a0001c0001t0005g0152 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0258 a0001c0001t0005g0310 a0001c0001t0009g0183 a0001c0001t0046g0153	9	320	0.0281	22	c.-97 others(41): Show c.-97-17353_-97-17332dupGTGTGTGTGTGTGTGTGTGTGT	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
FXR1_chr3_180907670_180987753	180926506	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA21309.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0297 a0001c0001t0015g0298 a0001c0001t0015g0297 a0001c0001t0015g0298	2	320	0.0063	22	c.52- others(37): Show c.52-6827_52-6826insATATATATTTTTTTTTTTTTTT	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXR2_chr17_7586230_7619897	7609931	T T	TATATATA others(15): Show TATATATACATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0062 a0001c0002t0001g0063	2	426	0.0047	22	c.82- others(37): Show c.82-3783_82-3782insGTATACATATACATGTATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7609931	T T	TATATATA others(15): Show TATATATATACGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19089.hp1 HG01099.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0001t0001g0077 a0001c0001t0001g0181	2	426	0.0047	22	c.82- others(37): Show c.82-3783_82-3782insGTATACATATACGTATATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7609959	T T	TATATATA others(15): Show TATATATACATGCATATGTATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01109.hp1 others(23): Show HG00544.hp2 HG00673.hp1 HG01109.hp1 HG01192.hp2 HG01516.hp1 HG02148.hp1 HG02523.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18967.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18997.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA19080.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0041 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0176	26	426	0.0610	22	c.82- others(37): Show c.82-3811_82-3810insGTATACATATGCATGTATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7609961	T T	TACATGTA others(15): Show TACATGTATATGTATACATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp1 HG02602.hp2 others(7): Show HG00733.hp1 HG01496.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG03239.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0179 a0001c0001t0001g0180	10	426	0.0235	22	c.82- others(37): Show c.82-3813_82-3812insGTATATGTATACATATACATGT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar

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