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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
FRMD3_chr9_83239622_83543401	83357220	TATATTTT others(19): Show TATATTTTATATATATATAATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0087 a0001c0001t0009g0087	1	242	0.0041	-26	c.296 others(43): Show c.296-7489_296-7464delGTATGTATTATATATATATAAAATAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83378450	ATATATAT others(19): Show ATATATATATAATATACATATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(73): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18951.hp1 NA18967.hp1 NA18998.hp1 NA19011.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0059 a0001c0001t0063 a0001c0002t0003 a0001c0002t0007 a0001c0002t0028 a0001c0002t0030 a0001c0002t0032 a0001c0002t0045 a0001c0002t0046 a0001c0002t0065 a0003c0006t0001 a0004c0007t0021	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0158 others(73): Show a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0182 a0001c0001t0002g0215 a0001c0001t0004g0134 a0001c0001t0005g0131 a0001c0001t0005g0133 a0001c0001t0005g0169 a0001c0001t0005g0200 a0001c0001t0005g0214 a0001c0001t0006g0029 a0001c0001t0006g0068 a0001c0001t0006g0076 a0001c0001t0008g0021 a0001c0001t0008g0034 a0001c0001t0008g0054 a0001c0001t0008g0090 a0001c0001t0009g0035 a0001c0001t0009g0061 a0001c0001t0009g0087 a0001c0001t0010g0056 a0001c0001t0010g0089 a0001c0001t0011g0020 a0001c0001t0012g0159 a0001c0001t0013g0102 a0001c0001t0015g0153 a0001c0001t0016g0031 a0001c0001t0016g0057 a0001c0001t0016g0082 a0001c0001t0018g0097 a0001c0001t0018g0190 a0001c0001t0019g0154 a0001c0001t0019g0225 a0001c0001t0022g0019 a0001c0001t0022g0023 a0001c0001t0025g0105 a0001c0001t0025g0222 a0001c0001t0026g0116 a0001c0001t0026g0117 a0001c0001t0033g0003 a0001c0001t0034g0002 a0001c0001t0035g0001 a0001c0001t0036g0004 a0001c0001t0041g0059 a0001c0001t0042g0042 a0001c0001t0051g0012 a0001c0001t0059g0156 a0001c0001t0063g0175 a0001c0002t0003g0026 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0048 a0001c0002t0003g0060 a0001c0002t0003g0095 a0001c0002t0007g0135 a0001c0002t0007g0142 a0001c0002t0007g0194 a0001c0002t0028g0155 a0001c0002t0028g0157 a0001c0002t0030g0118 a0001c0002t0032g0112 a0001c0002t0045g0040 a0001c0002t0046g0025 a0001c0002t0065g0228 a0003c0006t0001g0183 a0004c0007t0021g0013	76	242	0.3141	-26	c.253 others(43): Show c.253-5521_253-5496delAATTTTATATGTATATTATATATATA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	2/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83461665	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01071.hp2 HG02004.hp2 others(15): Show HG00423.hp1 HG01071.hp2 HG02004.hp2 HG02074.hp1 HG02129.hp1 HG03579.hp1 HG03942.hp1 NA18747.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp2 NA18980.hp2 NA18988.hp1 NA19005.hp2 NA19011.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0031 a0001c0002t0029 a0001c0002t0047	a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0173 others(15): Show a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0002g0132 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0004g0134 a0001c0001t0004g0168 a0001c0001t0004g0220 a0001c0001t0005g0130 a0001c0001t0005g0169 a0001c0001t0005g0204 a0001c0001t0008g0022 a0001c0001t0013g0167 a0001c0001t0031g0170 a0001c0002t0029g0241 a0001c0002t0047g0039	18	242	0.0744	-26	c.148 others(45): Show c.148-71983_148-71958delAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83488972	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0241 a0001c0002t0029g0241	1	242	0.0041	-26	c.147 others(45): Show c.147+49087_147+49112delCACACACACACACACACACACACACA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13867686	TATATAAT others(19): Show TATATAATATAATATATAATAAATAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0004 a0002c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014 a0001c0002t0025 a0001c0003t0001 a0001c0003t0003 a0001c0003t0018 a0001c0005t0003 a0001c0008t0001 a0001c0009t0002 a0001c0011t0002 a0002c0004t0002 a0002c0004t0010 a0002c0006t0010 a0004c0007t0003	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0027 others(108): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0003g0021 a0001c0001t0003g0079 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0052 a0001c0001t0004g0070 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0005g0023 a0001c0001t0005g0056 a0001c0001t0005g0109 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0035 a0001c0001t0006g0044 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0113 a0001c0001t0007g0015 a0001c0001t0007g0060 a0001c0001t0007g0094 a0001c0001t0007g0107 a0001c0001t0008g0022 a0001c0001t0008g0036 a0001c0001t0008g0077 a0001c0001t0008g0102 a0001c0001t0008g0106 a0001c0001t0009g0047 a0001c0001t0009g0055 a0001c0001t0009g0098 a0001c0001t0009g0099 a0001c0001t0011g0018 a0001c0001t0011g0032 a0001c0001t0011g0090 a0001c0001t0012g0069 a0001c0001t0013g0040 a0001c0001t0015g0037 a0001c0001t0016g0002 a0001c0001t0019g0064 a0001c0001t0020g0026 a0001c0001t0021g0059 a0001c0001t0022g0051 a0001c0001t0023g0075 a0001c0001t0026g0120 a0001c0001t0028g0134 a0001c0001t0029g0133 a0001c0002t0001g0116 a0001c0002t0002g0049 a0001c0002t0004g0108 a0001c0002t0007g0126 a0001c0002t0014g0082 a0001c0002t0025g0063 a0001c0003t0001g0010 a0001c0003t0001g0071 a0001c0003t0001g0105 a0001c0003t0003g0080 a0001c0003t0018g0011 a0001c0005t0003g0003 a0001c0008t0001g0061 a0001c0009t0002g0006 a0001c0011t0002g0101 a0002c0004t0002g0084 a0002c0004t0002g0095 a0002c0004t0010g0012 a0002c0004t0010g0053 a0002c0006t0010g0058 a0004c0007t0003g0068	111	134	0.8284	-26	c.46- others(41): Show c.46-8800_46-8775delGTTATTTATTATATATTATATTATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13910888	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	134	0.0075	-26	c.46- others(43): Show c.46-52002_46-51977delTTTTTTTTTTTTTTTTTTTTTTTTTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14125901	AAAACAGG others(19): Show AAAACAGGGTACAACACAGTATGATAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	134	0.0075	-26	c.45+ others(45): Show c.45+204131_45+204156delCTATCATACTGTGTTGTACCCTGTTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69234040	AGTTCCAG others(19): Show AGTTCCAGACCAGCCTGGCCAAATGGT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19009.hp2 NA18945.hp1 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0154 a0003c0003t0003g0125 a0001c0001t0001g0154 a0003c0003t0003g0125	2	224	0.0089	-26	c.582 others(43): Show c.582-9376_582-9351delACCATTTGGCCAGGCTGGTCTGGAAC	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	7/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267589	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04199.hp1 HG03453.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0023 a0003c0012t0012 a0001c0001t0023 a0003c0012t0012	a0001c0001t0023g0203 a0003c0012t0012g0186 a0001c0001t0023g0203 a0003c0012t0012g0186	2	224	0.0089	-26	c.502 others(45): Show c.502-17516_502-17491delTATATATATATATATATATACACACA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267618	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03490.hp2 HG04184.hp1 HG00639.hp1 HG03490.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0001g0218 a0001c0001t0002g0128 a0001c0001t0001g0159 a0001c0001t0001g0218 a0001c0001t0002g0128	3	224	0.0134	-26	c.502 others(45): Show c.502-17545_502-17520delCTCTCTCTATATATATATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267620	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	224	0.0045	-26	c.502 others(45): Show c.502-17547_502-17522delCTCTCTCTCTATATATATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267622	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp1 others(3): Show HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01981.hp1 HG03041.hp2 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0005 a0001c0001 a0001c0009 a0003c0005	a0001c0001t0002 a0001c0001t0026 a0001c0009t0001 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0009t0001 a0003c0005t0007	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0172 others(3): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0172 a0001c0001t0026g0131 a0001c0009t0001g0160 a0003c0005t0007g0052	6	224	0.0268	-26	c.502 others(45): Show c.502-17549_502-17524delCTCTCTCTCTCTATATATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267624	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18945.hp2 NA18955.hp1 HG02165.hp1 NA18945.hp2 NA18955.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0025 a0002c0002t0002g0214 a0003c0003t0003g0107 a0001c0001t0001g0025 a0002c0002t0002g0214 a0003c0003t0003g0107	3	224	0.0134	-26	c.502 others(45): Show c.502-17551_502-17526delCTCTCTCTCTCTCTATATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267626	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02922.hp2 others(2): Show HG02895.hp1 HG02897.hp1 HG02922.hp2 NA18960.hp2 NA18984.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0004t0039	a0001c0001t0001g0140 a0001c0001t0002g0098 a0002c0002t0002g0059 others(2): Show a0001c0001t0001g0140 a0001c0001t0002g0098 a0002c0002t0002g0059 a0002c0002t0002g0060 a0004c0004t0039g0173	5	224	0.0223	-26	c.502 others(45): Show c.502-17553_502-17528delCTCTCTCTCTCTCTCTATATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267628	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19007.hp2 NA19054.hp1 HG00423.hp1 NA19007.hp2 NA19054.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0003 a0001c0001t0002 a0002c0002t0002 a0003c0003t0003	a0001c0001t0002g0084 a0002c0002t0002g0004 a0003c0003t0003g0108 a0001c0001t0002g0084 a0002c0002t0002g0004 a0003c0003t0003g0108	3	224	0.0134	-26	c.502 others(45): Show c.502-17555_502-17530delCTCTCTCTCTCTCTCTCTATATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267630	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02165.hp2 HG01496.hp2 HG02165.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0190 a0002c0002t0002g0165 a0001c0001t0002g0190 a0002c0002t0002g0165	2	224	0.0089	-26	c.502 others(45): Show c.502-17557_502-17532delCTCTCTCTCTCTCTCTCTCTATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267632	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	224	0.0045	-26	c.502 others(45): Show c.502-17559_502-17534delCTCTCTCTCTCTCTCTCTCTCTATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267634	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	224	0.0045	-26	c.502 others(45): Show c.502-17561_502-17536delCTCTCTCTCTCTCTCTCTCTCTCTAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69375242	CCCATCCA others(19): Show CCCATCCATCCATCCACCCCATCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02040.hp1 HG03195.hp2 others(1): Show HG01433.hp1 HG02040.hp1 HG03195.hp2 HG06807.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0015 a0007c0016 a0001c0001 a0006c0015 a0007c0016	a0001c0001t0001 a0001c0001t0026 a0006c0015t0004 others(1): Show a0001c0001t0001 a0001c0001t0026 a0006c0015t0004 a0007c0016t0017	a0001c0001t0001g0210 a0001c0001t0026g0206 a0006c0015t0004g0079 others(1): Show a0001c0001t0001g0210 a0001c0001t0026g0206 a0006c0015t0004g0079 a0007c0016t0017g0003	4	224	0.0179	-26	c.162 others(45): Show c.162+10560_162+10585delATGGGATGGGGTGGATGGATGGATGG	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMPD4_chrX_12133473_12729523	12410513	TGCTCCTT others(19): Show TGCTCCTTTTATTATGGAGTCATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	174	0.0058	-26	c.42- others(43): Show c.42-88164_42-88139delTCCTTTTATTATGGAGTCATAAAAGC	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12720023	AGGAAAGG others(19): Show AGGAAAGGAAAGGAAAGGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0008 a0001c0008t0004g0008	1	174	0.0058	-26	c.396 others(43): Show c.3965-509_3965-484delGAAAGGAAAGGAAAGGAAAGGAAAGG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRRS1_chr1_99698970_99771635	99708623	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0021 a0001c0002t0129g0021	1	318	0.0031	-26	c.37 others(35): Show c.379_*404delATATATATATATATATATATATATTT	FRRS1	ENSG00000156869.14	transcript	ENST00000646001.2	protein_coding	17/17	379		chr1	TogoVar
FRS2_chr12_69465388_69584793	69483829	TTTAATCT others(19): Show TTTAATCTTGAAATGTGGTTAAATTGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02723.hp1 others(3): Show HG02145.hp2 HG02630.hp1 HG02723.hp1 HG03195.hp2 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0009g0338 others(3): Show a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0009g0338 a0001c0001t0009g0339 a0001c0001t0009g0340 a0001c0001t0009g0341	6	342	0.0175	-26	c.-26 others(47): Show c.-261+13302_-261+13327delAATCTTGAAATGTGGTTAAATTGC TT	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69530161	TAACAATT others(19): Show TAACAATTAATGATAATAATTGCTTAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02615.hp1 others(3): Show HG00639.hp2 HG02055.hp1 HG02615.hp1 HG03486.hp1 NA18980.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 others(3): Show a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0220 a0001c0002t0024g0219	6	342	0.0175	-26	c.-26 others(43): Show c.-260-682_-260-657delCTTACAACAATTAATGATAATAATTG	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRZB_chr2_182828275_182871637	182871385	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01192.hp1 HG01361.hp2 HG01071.hp2 HG01192.hp1 HG01361.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0011 a0004c0005t0003 a0001c0001t0002 a0001c0001t0011 a0004c0005t0003	a0001c0001t0002g0003 a0001c0001t0011g0122 a0004c0005t0003g0023 a0001c0001t0002g0003 a0001c0001t0011g0122 a0004c0005t0003g0023	3	370	0.0081	-26	c.-48 others(37): Show c.-4859_-4834delTTTTTTTTTTTTTTTTTTTTTTTTTT	FRZB	ENSG00000162998.5	transcript	ENST00000295113.5	protein_coding		4749		chr2	TogoVar
FSHR_chr2_48957157_49159515	49030271	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(54): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02486.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18960.hp2 NA18972.hp1 NA18975.hp1 NA18990.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19083.hp2 NA19086.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0190 a0001c0001t0001g0257 a0001c0001t0001g0293 others(54): Show a0001c0001t0001g0190 a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0096 a0002c0002t0001g0205 a0002c0002t0001g0212 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0295 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0312 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0330 a0002c0002t0001g0349 a0002c0002t0002g0001 a0002c0002t0002g0005 a0003c0003t0001g0139	57	350	0.1629	-26	c.225 others(45): Show c.225-10137_225-10112delACACACACACACACACACACACACAC	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL1_chr3_120387293_120455992	120412812	ACACATGT others(19): Show ACACATGTGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0253 a0001c0001t0011g0253	1	332	0.0030	-26	c.169 others(41): Show c.169-855_169-830delCGCGCGCGCGCGCGCGCGCACATGTG	FSTL1	ENSG00000163430.13	transcript	ENST00000295633.8	protein_coding	3/10			chr3	TogoVar
FSTL4_chr5_133191455_133617541	133352319	TATATATA others(19): Show TATATATACACACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(35): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02602.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG04228.hp2 NA18942.hp2 NA18963.hp2 NA18970.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18991.hp1 NA19009.hp2 NA19043.hp2 NA19063.hp2 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0002c0002t0002 a0002c0002t0017 a0003c0004t0002 a0007c0013t0003	a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 others(35): Show a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0036 a0001c0001t0003g0074 a0001c0001t0003g0113 a0001c0001t0003g0130 a0001c0001t0003g0151 a0001c0001t0003g0164 a0001c0001t0004g0087 a0001c0001t0006g0133 a0001c0001t0009g0169 a0001c0001t0010g0056 a0001c0001t0013g0158 a0001c0001t0020g0107 a0002c0002t0002g0026 a0002c0002t0002g0035 a0002c0002t0002g0048 a0002c0002t0002g0073 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0089 a0002c0002t0002g0119 a0002c0002t0002g0142 a0002c0002t0002g0163 a0002c0002t0002g0167 a0002c0002t0017g0108 a0003c0004t0002g0125 a0007c0013t0003g0161	38	176	0.2159	-26	c.410 others(45): Show c.410-35693_410-35668delGTGTATATATATATGTGTGTATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161686305	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	142	0.0070	-26	c.728 others(45): Show c.728-29837_728-29812delATATATATATATATATATATATATAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686322	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0118 a0001c0001t0015g0118	1	142	0.0070	-26	c.728 others(45): Show c.728-29854_728-29829delAATATATATATATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686326	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	142	0.0070	-26	c.728 others(45): Show c.728-29858_728-29833delAAAAAATATATATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686330	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	142	0.0070	-26	c.728 others(45): Show c.728-29862_728-29837delAAAAAAAAAATATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161779759	TTATATAT others(19): Show TTATATATATATATATGTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG00642.hp2 HG01243.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0004 a0001c0001t0004 a0002c0004t0004	a0001c0001t0004g0133 a0002c0004t0004g0121 a0001c0001t0004g0133 a0002c0004t0004g0121	2	142	0.0141	-26	c.410 others(43): Show c.410-3711_410-3686delTATATATATACATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162153632	AATAATAT others(19): Show AATAATATATGTATATTATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp2 HG02895.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0013 a0001c0001t0001 a0001c0003t0013	a0001c0001t0001g0097 a0001c0003t0013g0102 a0001c0001t0001g0097 a0001c0003t0013g0102	2	142	0.0141	-26	c.-17 others(43): Show c.-17+9957_-17+9982delATACATATATAATATACATATATTAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FTO_chr16_53699156_54126941	53760205	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 NA20300.hp2 HG03098.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0027 a0001c0003t0016 a0001c0001t0006 a0001c0001t0027 a0001c0003t0016	a0001c0001t0006g0017 a0001c0001t0027g0144 a0001c0003t0016g0117 a0001c0001t0006g0017 a0001c0001t0027g0144 a0001c0003t0016g0117	3	194	0.0155	-26	c.46- others(43): Show c.46-49904_46-49879delGTGTGTGTGTGTGTGTGTGTGTGTGT	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUNDC1_chrX_44518639_44547859	44531285	CGGCTTTC others(19): Show CGGCTTTCAGATGAAGATTCATGTTGG	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	313	0.0032	-26	c.262 others(43): Show c.262-3946_262-3921delCCAACATGAATCTTCATCTGAAAGCC	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4			chrX	TogoVar
FUT10_chr8_33365824_33478146	33380024	TATACTAT others(19): Show TATACTATATATATACGATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(61): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18997.hp2 NA19001.hp1 NA19004.hp1 NA19012.hp1 NA19066.hp2 NA19088.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0002 a0007c0010 a0009c0019 a0002c0002 a0007c0010 a0009c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0021 a0007c0010t0001 a0009c0019t0001	a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 others(61): Show a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0128 a0002c0002t0001g0143 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0199 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0249 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0259 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0009g0010 a0002c0002t0009g0018 a0002c0002t0021g0268 a0007c0010t0001g0138 a0007c0010t0001g0139 a0007c0010t0001g0141 a0007c0010t0001g0142 a0009c0019t0001g0085	64	268	0.2388	-26	c.121 others(45): Show c.1213-7246_1213-7221delGTATATATATCGTATATATATAGTAT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4			chr8	TogoVar
FUT10_chr8_33365824_33478146	33431547	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	268	0.0037	-26	c.376 others(45): Show c.376+21643_376+21668delTTTTTTTTTTTTTTTTTTTTTTTTTT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	3/4			chr8	TogoVar
FUT6_chr19_5825408_5844702	5828928	CCCCAGCG others(19): Show CCCCAGCGTCTCCCTGTCCGCACTGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(169): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0009 a0002c0002 others(10): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0005c0010 a0005c0015 a0007c0012 a0009c0013 a0011c0016 a0012c0018 a0013c0020 a0014c0019 a0015c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(35): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0058 a0001c0001t0061 a0001c0009t0015 a0001c0009t0033 a0001c0009t0047 a0001c0009t0059 a0002c0002t0001 a0002c0002t0010 a0004c0004t0039 a0005c0010t0011 a0005c0015t0037 a0007c0012t0002 a0009c0013t0027 a0011c0016t0011 a0012c0018t0004 a0013c0020t0004 a0014c0019t0006 a0015c0021t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0021 others(60): Show a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0004g0004 a0001c0001t0004g0019 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0006g0102 a0001c0001t0006g0129 a0001c0001t0013g0012 a0001c0001t0014g0031 a0001c0001t0014g0101 a0001c0001t0014g0103 a0001c0001t0014g0113 a0001c0001t0017g0030 a0001c0001t0020g0061 a0001c0001t0020g0146 a0001c0001t0021g0049 a0001c0001t0022g0100 a0001c0001t0022g0108 a0001c0001t0023g0050 a0001c0001t0024g0051 a0001c0001t0026g0046 a0001c0001t0032g0060 a0001c0001t0034g0062 a0001c0001t0035g0140 a0001c0001t0035g0145 a0001c0001t0042g0107 a0001c0001t0043g0110 a0001c0001t0044g0099 a0001c0001t0045g0109 a0001c0001t0046g0097 a0001c0001t0058g0139 a0001c0001t0061g0147 a0001c0009t0015g0020 a0001c0009t0015g0130 a0001c0009t0033g0063 a0001c0009t0047g0070 a0001c0009t0059g0149 a0002c0002t0001g0001 a0002c0002t0010g0053 a0004c0004t0039g0067 a0005c0010t0011g0033 a0005c0015t0037g0065 a0007c0012t0002g0052 a0007c0012t0002g0105 a0009c0013t0027g0048 a0011c0016t0011g0133 a0012c0018t0004g0143 a0013c0020t0004g0148 a0014c0019t0006g0112 a0015c0021t0002g0106	172	436	0.3945	-26	c.25 others(37): Show c.2534_*2559delATCAGTGCGGACAGGGAGACGCTGGG	FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding		1479		chr19	TogoVar
FUT8_chr14_65407730_65749121	65602341	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	374	0.0027	-26	c.204 others(45): Show c.204-13635_204-13610delTCACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611197	ACGCGCGC others(19): Show ACGCGCGCGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	374	0.0027	-26	c.204 others(43): Show c.204-4779_204-4754delGCGCGCGCGCGCGCGCGCGCGCGCGC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611205	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0359 a0001c0001t0003g0359	1	374	0.0027	-26	c.204 others(43): Show c.204-4771_204-4746delGCGCGCGCGCGCGCGCGCACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611207	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	374	0.0027	-26	c.204 others(43): Show c.204-4769_204-4744delGCGCGCGCGCGCGCGCACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	374	0.0027	-26	c.204 others(43): Show c.204-4767_204-4742delGCGCGCGCGCGCGCACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(19): Show GCGCGCGCGCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0348 a0002c0003t0001g0348	1	374	0.0027	-26	c.204 others(43): Show c.204-4765_204-4740delGCGCGCGCGCGCACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(19): Show GCGCGCGCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	374	0.0027	-26	c.204 others(43): Show c.204-4763_204-4738delGCGCGCGCGCACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65618010	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG03195.hp1 HG02622.hp2 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0102	3	374	0.0080	-26	c.482 others(43): Show c.482+1656_482+1681delATATATATATATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677150	GTGCGCGC others(19): Show GTGCGCGCGCGCATGCGCGCGCACGTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02572.hp1 others(11): Show HG01891.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0006g0147 others(11): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0163 a0001c0001t0008g0088 a0001c0001t0008g0210 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0008g0287 a0001c0001t0021g0162	14	374	0.0374	-26	c.835 others(43): Show c.835+7673_835+7698delCGCGCGCGCATGCGCGCGCACGTATG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXR2_chr17_7586230_7619897	7609941	CATGTATA others(19): Show CATGTATATGTATACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00733.hp2 others(23): Show HG00280.hp1 HG00323.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02145.hp1 HG02148.hp2 HG02738.hp1 HG03834.hp1 HG04184.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0030 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0152	26	426	0.0610	-26	c.82- others(41): Show c.82-3818_82-3793delATGTATATATATGTATACATATACAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXR2_chr17_7586230_7619897	7609955	CATATATA others(19): Show CATATATATACATGTATATGTATACAT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	426	0.0024	-26	c.82- others(41): Show c.82-3832_82-3807delATGTATACATATACATGTATATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 6759 hits)