Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FRMD1_chr6_168048095_168084212	168078540	GGCCCTGC others(29): Show GGCCCTGCTCACCCCCACGGCTCTGCTCACCCTCACA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19030.hp1 HG02523.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0193 a0001c0002t0009g0105 a0001c0001t0001g0193 a0001c0002t0009g0105	2	402	0.0050	-36	c.213 others(51): Show c.213+306_213+341delTGTGAGGGTGAGCAGAGCCGTGGGGGTGAG CAGGGC		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD3_chr9_83239622_83543401	83357214	AATATATA others(29): Show AATATATATATTTTATATATATATAATACATACATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG00738.hp2 others(14): Show HG00544.hp1 HG00735.hp1 HG00738.hp2 HG02257.hp2 HG02735.hp1 HG03654.hp2 HG04228.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18970.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA19065.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0031 a0001c0001t0041 a0001c0001t0052 a0001c0001t0053 a0001c0001t0062 a0001c0002t0003 a0001c0002t0065 a0001c0002t0067	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0004g0100 others(14): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0004g0100 a0001c0001t0004g0126 a0001c0001t0004g0231 a0001c0001t0005g0122 a0001c0001t0005g0130 a0001c0001t0005g0204 a0001c0001t0009g0035 a0001c0001t0031g0170 a0001c0001t0041g0059 a0001c0001t0052g0083 a0001c0001t0053g0075 a0001c0001t0062g0148 a0001c0002t0003g0026 a0001c0002t0065g0228 a0001c0002t0067g0127	17	242	0.0703	-36	c.296 others(53): Show c.296-7493_296-7458delATATGTATGTATTATATATATATAAAAT ATATATAT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479765	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG00140.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0051 a0001c0001t0005 a0001c0001t0051	a0001c0001t0005g0133 a0001c0001t0051g0012 a0001c0001t0005g0133 a0001c0001t0051g0012	2	242	0.0083	-36	c.147 others(55): Show c.147+58284_147+58319delTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCC		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13734831	CTTCTTTT others(29): Show CTTCTTTTTCTATTTATTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp1 HG01975.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0086 a0001c0001t0002g0039 a0001c0001t0002g0086	2	134	0.0149	-36	c.759 others(53): Show c.759+2977_759+3012delATAAATAAATAAATAAATAAATAAATAG AAAAAGAA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14199381	GATCTCAA others(29): Show GATCTCAACTCACTGCAATCTCCACCTCCCGGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG03041.hp1 others(1): Show HG02109.hp1 HG02970.hp2 HG03041.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0018	a0001c0001t0002g0004 a0001c0001t0004g0070 a0001c0003t0001g0071 others(1): Show a0001c0001t0002g0004 a0001c0001t0004g0070 a0001c0003t0001g0071 a0001c0003t0018g0011	4	134	0.0299	-36	c.45+ others(55): Show c.45+130641_45+130676delTGAGCCCGGGAGGTGGAGATTGCAGT GAGTTGAGAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69267614	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG01346.hp1 HG02135.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0008 a0001c0001t0001 a0004c0004t0008	a0001c0001t0001g0148 a0004c0004t0008g0094 a0001c0001t0001g0148 a0004c0004t0008g0094	2	224	0.0089	-36	c.502 others(55): Show c.502-17551_502-17516delCTCTCTCTCTCTCTATATATATATAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267616	TATATATA others(29): Show TATATATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03834.hp2 NA18977.hp2 others(1): Show HG02132.hp2 HG03834.hp2 NA18977.hp2 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0002c0002t0001 a0003c0003t0008 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0008 a0004c0004t0019	a0001c0001t0002g0096 a0002c0002t0001g0126 a0003c0003t0008g0093 others(1): Show a0001c0001t0002g0096 a0002c0002t0001g0126 a0003c0003t0008g0093 a0004c0004t0019g0149	4	224	0.0179	-36	c.502 others(55): Show c.502-17553_502-17518delCTCTCTCTCTCTCTCTATATATATAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267618	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02897.hp2 HG02015.hp1 HG02897.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0004 a0003c0005 a0004c0004	a0003c0005t0009 a0004c0004t0038 a0003c0005t0009 a0004c0004t0038	a0003c0005t0009g0207 a0004c0004t0038g0118 a0003c0005t0009g0207 a0004c0004t0038g0118	2	224	0.0089	-36	c.502 others(55): Show c.502-17555_502-17520delCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267620	TATATATA others(29): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	224	0.0045	-36	c.502 others(55): Show c.502-17557_502-17522delCTCTCTCTCTCTCTCTCTCTATATAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267622	TATATATA others(29): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0223 a0004c0004t0003g0223	1	224	0.0045	-36	c.502 others(55): Show c.502-17559_502-17524delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267624	TATATATA others(29): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	224	0.0045	-36	c.502 others(55): Show c.502-17561_502-17526delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRYL_chr4_48492357_48785279	48506615	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0211 a0002c0004t0001g0211	1	282	0.0036	-36	c.839 others(55): Show c.8395-1036_8395-1001delATATATATATATATATATATATATAT ATATATATAT		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	59/63						chr4	TogoVar
FRY_chr13_32026774_32304125	32268489	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0014 a0015	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0052 a0001c0054 a0002c0003 a0002c0006 a0002c0018 a0003c0005 a0003c0007 a0003c0048 a0004c0051 a0006c0056 a0009c0057 a0012c0024 a0014c0047 a0015c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0008t0001 a0001c0008t0005 a0001c0009t0004 a0001c0009t0005 a0001c0009t0009 a0001c0010t0002 a0001c0010t0004 a0001c0010t0006 a0001c0010t0014 a0001c0010t0023 a0001c0013t0003 a0001c0013t0006 a0001c0013t0008 a0001c0015t0002 a0001c0040t0003 a0001c0043t0004 a0001c0045t0001 a0001c0046t0003 a0001c0052t0001 a0001c0054t0001 a0002c0003t0001 a0002c0003t0011 a0002c0006t0001 a0002c0018t0003 a0003c0005t0001 a0003c0005t0002 a0003c0005t0004 a0003c0005t0017 a0003c0007t0001 a0003c0007t0002 a0003c0007t0005 a0003c0007t0025 a0003c0048t0003 a0004c0051t0002 a0006c0056t0010 a0009c0057t0006 a0012c0024t0004 a0014c0047t0002 a0015c0036t0001	a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0080 others(104): Show a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0002g0015 a0001c0001t0002g0051 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0195 a0001c0001t0002g0218 a0001c0001t0003g0070 a0001c0001t0003g0214 a0001c0001t0004g0081 a0001c0001t0004g0167 a0001c0001t0005g0111 a0001c0001t0005g0217 a0001c0001t0006g0063 a0001c0001t0009g0104 a0001c0001t0011g0093 a0001c0001t0013g0024 a0001c0001t0013g0027 a0001c0002t0001g0091 a0001c0002t0001g0210 a0001c0002t0002g0082 a0001c0002t0002g0113 a0001c0002t0002g0143 a0001c0002t0002g0193 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0231 a0001c0002t0003g0228 a0001c0002t0004g0100 a0001c0002t0004g0140 a0001c0002t0004g0148 a0001c0002t0005g0160 a0001c0002t0005g0230 a0001c0002t0006g0134 a0001c0002t0009g0179 a0001c0002t0012g0219 a0001c0002t0021g0139 a0001c0002t0022g0178 a0001c0002t0024g0176 a0001c0004t0001g0215 a0001c0004t0001g0222 a0001c0004t0002g0207 a0001c0004t0003g0060 a0001c0004t0003g0089 a0001c0004t0003g0119 a0001c0004t0004g0185 a0001c0004t0004g0216 a0001c0004t0005g0188 a0001c0004t0005g0191 a0001c0008t0001g0122 a0001c0008t0001g0194 a0001c0008t0005g0009 a0001c0009t0004g0189 a0001c0009t0005g0125 a0001c0009t0005g0129 a0001c0009t0009g0196 a0001c0010t0002g0124 a0001c0010t0004g0172 a0001c0010t0006g0008 a0001c0010t0006g0120 a0001c0010t0014g0130 a0001c0010t0023g0054 a0001c0013t0003g0001 a0001c0013t0006g0031 a0001c0013t0008g0029 a0001c0015t0002g0021 a0001c0040t0003g0017 a0001c0043t0004g0200 a0001c0045t0001g0057 a0001c0046t0003g0150 a0001c0052t0001g0040 a0001c0054t0001g0233 a0002c0003t0001g0165 a0002c0003t0011g0114 a0002c0006t0001g0088 a0002c0018t0003g0136 a0003c0005t0001g0090 a0003c0005t0001g0094 a0003c0005t0001g0126 a0003c0005t0001g0224 a0003c0005t0002g0084 a0003c0005t0004g0076 a0003c0005t0017g0045 a0003c0007t0001g0203 a0003c0007t0002g0171 a0003c0007t0002g0182 a0003c0007t0002g0187 a0003c0007t0002g0198 a0003c0007t0005g0103 a0003c0007t0005g0190 a0003c0007t0025g0095 a0003c0048t0003g0223 a0004c0051t0002g0181 a0006c0056t0010g0026 a0009c0057t0006g0232 a0012c0024t0004g0133 a0014c0047t0002g0052 a0015c0036t0001g0053	107	236	0.4534	-36	c.813 others(55): Show c.8136+1132_8136+1167delAAAAAAAAAAAAAAAATATATATATA TATATATATA		FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	55/60					INFO_REALIGN_3_PRIME	chr13	TogoVar
FSHR_chr2_48957157_49159515	49127794	TTCTTCTT others(29): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp1 HG01361.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0178 a0002c0002t0001g0200 a0001c0001t0001g0178 a0002c0002t0001g0200	2	350	0.0057	-36	c.152 others(55): Show c.152+26436_152+26471delGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FSTL5_chr4_161378897_162169000	161776517	ATATATAT others(29): Show ATATATATATGTACGTATATGCATACATATACGTATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00621.hp2 others(46): Show HG00140.hp2 HG00558.hp1 HG00621.hp2 HG01109.hp2 HG01123.hp2 HG01256.hp2 HG01952.hp2 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18964.hp1 NA18983.hp1 NA19002.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0004c0006 a0004c0009 a0005c0007 a0005c0011 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0013 a0001c0003t0019 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0005t0009 a0004c0006t0002 a0004c0009t0006 a0005c0007t0001 a0005c0011t0001 a0006c0008t0001	a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0045 others(46): Show a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0007g0020 a0001c0001t0011g0006 a0001c0001t0013g0076 a0001c0001t0014g0101 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0008g0103 a0001c0002t0016g0135 a0001c0002t0017g0080 a0001c0002t0021g0134 a0001c0003t0001g0026 a0001c0003t0001g0032 a0001c0003t0001g0056 a0001c0003t0001g0085 a0001c0003t0002g0003 a0001c0003t0002g0008 a0001c0003t0007g0053 a0001c0003t0013g0102 a0001c0003t0019g0105 a0002c0004t0001g0066 a0002c0004t0002g0013 a0002c0004t0003g0107 a0003c0005t0009g0128 a0004c0006t0002g0001 a0004c0009t0006g0140 a0005c0007t0001g0094 a0005c0011t0001g0027 a0006c0008t0001g0030	49	142	0.3451	-36	c.410 others(51): Show c.410-479_410-444delCATACGTATATGTATGCATATACGTACATA TATATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15						chr4	TogoVar
FSTL5_chr4_161378897_162169000	161779759	TTATATAT others(29): Show TTATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG03486.hp2 HG02572.hp2 HG02717.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0005c0007t0001 a0001c0001t0001 a0001c0003t0001 a0005c0007t0001	a0001c0001t0001g0029 a0001c0003t0001g0041 a0005c0007t0001g0096 a0001c0001t0001g0029 a0001c0003t0001g0041 a0005c0007t0001g0096	3	142	0.0211	-36	c.410 others(53): Show c.410-3721_410-3686delTATATATATATATATATATACATATATA TATATATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15						chr4	TogoVar
FSTL5_chr4_161378897_162169000	161992894	ATATGTGT others(29): Show ATATGTGTGTGTATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0021 a0005c0011t0001 a0001c0002t0021 a0005c0011t0001	a0001c0002t0021g0134 a0005c0011t0001g0027 a0001c0002t0021g0134 a0005c0011t0001g0027	2	142	0.0141	-36	c.160 others(55): Show c.160+40695_160+40730delCACACATATATATATATATATATATA CACACACATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15						chr4	TogoVar
FUBP3_chr9_130574577_130643352	130589665	GTATGTGT others(29): Show GTATGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01515.hp2 HG01934.hp1 others(5): Show HG01070.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG03453.hp1 NA18963.hp2 NA18994.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0202 a0001c0001t0001g0206	8	378	0.0212	-36	c.85- others(51): Show c.85-5814_85-5779delGTGTGTGTATATATATATATATATATATAT ATATAT		FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
FUNDC1_chrX_44518639_44547859	44531279	CACACACG others(29): Show CACACACGGCTTTCAGATGAAGATTCATGTTGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0206 a0001c0001t0001g0221	2	313	0.0064	-36	c.262 others(53): Show c.262-3950_262-3915delCTGGCCAACATGAATCTTCATCTGAAAG CCGTGTGT		FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4						chrX	TogoVar
FUT1_chr19_48743011_48757641	48750745	TTCCCGGA others(29): Show TTCCCGGAGATGGTGGAAGAAAGTCCAAGAGCAGGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0048 a0005c0005t0005g0048	1	438	0.0023	-36	c.501 others(43): Show c.501_536delCCCCTGCTCTTGGACTTTCTTCCACCATCTCCGGGA	p.Phe others(19): Show p.Phe167_Glu179delinsLeu	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding	2/2	690/3425	501/1098	167/365			chr19	TogoVar
FUT8_chr14_65407730_65749121	65611187	ACACACAC others(29): Show ACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	374	0.0027	-36	c.204 others(53): Show c.204-4779_204-4744delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611207	GCGCGCGC others(29): Show GCGCGCGCGCGCGCGCGCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	374	0.0027	-36	c.204 others(53): Show c.204-4769_204-4734delGCGCGCGCGCGCGCGCACACACACACAC ACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(29): Show GCGCGCGCGCGCGCGCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp2 HG01069.hp1 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0012 a0001c0002t0007 a0001c0002t0012	a0001c0002t0007g0308 a0001c0002t0012g0306 a0001c0002t0007g0308 a0001c0002t0012g0306	2	374	0.0054	-36	c.204 others(53): Show c.204-4767_204-4732delGCGCGCGCGCGCGCACACACACACACAC ACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(29): Show GCGCGCGCGCGCGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19080.hp2 NA19086.hp1 HG03098.hp2 NA19080.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0012 a0002c0003t0001 a0002c0003t0002 a0001c0002t0012 a0002c0003t0001 a0002c0003t0002	a0001c0002t0012g0309 a0002c0003t0001g0350 a0002c0003t0002g0276 a0001c0002t0012g0309 a0002c0003t0001g0350 a0002c0003t0002g0276	3	374	0.0080	-36	c.204 others(53): Show c.204-4765_204-4730delGCGCGCGCGCGCACACACACACACACAC ACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(29): Show GCGCGCGCGCGCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02922.hp1 HG00323.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0239 a0001c0002t0001g0274 a0001c0001t0005g0239 a0001c0002t0001g0274	2	374	0.0054	-36	c.204 others(53): Show c.204-4763_204-4728delGCGCGCGCGCACACACACACACACACAC ACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FYB1_chr5_39100252_39224563	39148153	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	326	0.0031	-36	c.129 others(55): Show c.1292+5259_1292+5294delTATATATATATATATATATATATATA TATATATAAA		FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18						chr5	TogoVar
FYCO1_chr3_45912903_46000824	45977350	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG03195.hp1 HG02257.hp1 HG02922.hp2 HG03195.hp1	a0008 a0008	a0008c0016 a0008c0040 a0008c0016 a0008c0040	a0008c0016t0013 a0008c0040t0001 a0008c0016t0013 a0008c0040t0001	a0008c0016t0013g0207 a0008c0016t0013g0214 a0008c0040t0001g0213 a0008c0016t0013g0207 a0008c0016t0013g0214 a0008c0040t0001g0213	3	336	0.0089	-36	c.289 others(53): Show c.289-2041_289-2006delATATATATATATATATATATATATATAT ATATATAT		FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding	4/17						chr3	TogoVar
FZD10_chr12_130157464_130170740	130166624	TCAGCCTG others(29): Show TCAGCCTGGTAAACATAAGATCACCCATCAACACTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	450	0.0022	-36	c.19 others(47): Show c.1937_*1972delCAGCCTGGTAAACATAAGATCACCCATCAACACT AG		FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding					885		chr12	TogoVar
FZD2_chr17_44552484_44566262	44565135	CTTCCTTC others(29): Show CTTCCTTCTGATGTCAGGAGCTGCCCAAGTAATAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-36	c.57 others(47): Show c.5750_*5785delTTCCTTCTGATGTCAGGAGCTGCCCAAGTAATAA AT		FZD2	ENSG00000180340.7	transcript	ENST00000315323.5	protein_coding					3874		chr17	TogoVar
FZD7_chr2_202028855_202043441	202030871	CTAGATAA others(29): Show CTAGATAAACCTGGGACTTGGCCAAAATAAGTAGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0000 a0003c0009t0001g0000	1	420	0.0024	-36	c.-37 others(47): Show c.-3776_-3741delTAGATAAACCTGGGACTTGGCCAAAATAAGTAGC AT		FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding					2983		chr2	TogoVar
FZR1_chr19_3501311_3543334	3529099	TGAGCGGA others(29): Show TGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02895.hp1 others(3): Show HG02145.hp2 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0032 a0001c0001t0010 a0001c0001t0032	a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0053 others(3): Show a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0032g0052	6	314	0.0191	-36	c.654 others(53): Show c.654+1316_654+1351delATGGGAGAGCGGATGGGAGAGCGGATGG GAGAGCGG		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
FZR1_chr19_3501311_3543334	3529183	AGAGCGGA others(29): Show AGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(5): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 NA18948.hp1 NA18955.hp2 NA18990.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0196 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0227	8	314	0.0255	-36	c.654 others(53): Show c.654+1395_654+1430delAGTGGATGGTTGAGCGGATGGGAGAGCG GATGAGAG		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
FZR1_chr19_3501311_3543334	3530393	TGAGCGGA others(29): Show TGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04228.hp1 HG00673.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0100 a0001c0007t0002g0135 a0001c0001t0002g0100 a0001c0007t0002g0135	2	314	0.0064	-36	c.655 others(51): Show c.655-364_655-329delGAGAGCGGATGGGAGAGCGCATGGGAGAGC GCATGG		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GAB3_chrX_154670249_154756077	154672331	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0016 a0001c0001t0017g0016	1	257	0.0039	-36	c.58 others(47): Show c.5811_*5846delAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG		GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding					2917		chrX	TogoVar
GABPB1_chr15_50270389_50360198	50340852	TTATTACA others(29): Show TTATTACATATGGTTTATTACCATATGTAATATTACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(92): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02300.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG03239.hp2 HG03490.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(92): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0315 a0001c0001t0001g0349 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0354 a0001c0001t0009g0357 a0001c0001t0009g0358 a0001c0001t0009g0359 a0001c0001t0017g0144 a0001c0001t0019g0356	95	366	0.2596	-36	c.-1+ others(53): Show c.-1+14097_-1+14132delTGTAATATTACATATGGTAATAAACCAT ATGTAATA		GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8						chr15	TogoVar
GABRB1_chr4_47026567_47431447	47195420	ATAGATAG others(29): Show ATAGATAGATAGATAGATAGATAGATGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0028 a0001c0003t0010g0028	1	158	0.0063	-36	c.461 others(55): Show c.461+33957_461+33992delAGATAGATAGATAGATAGATGATAGA TAGATTAGAT		GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195437	TAGATAGA others(29): Show TAGATAGATGATAGATAGATTAGATGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG03139.hp2 HG02145.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 a0001c0001t0002 a0001c0001t0003 a0001c0005t0003	a0001c0001t0002g0136 a0001c0001t0003g0006 a0001c0005t0003g0012 a0001c0001t0002g0136 a0001c0001t0003g0006 a0001c0005t0003g0012	3	158	0.0190	-36	c.461 others(55): Show c.461+33969_461+34004delAGATAGATGATAGATAGATTAGATGA TAGATAGATA		GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8						chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195445	TGATAGAT others(29): Show TGATAGATAGATTAGATGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01255.hp1 others(21): Show HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp1 HG02071.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04204.hp1 NA18953.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0003 a0001c0006t0005 a0002c0011t0002	a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0075 others(21): Show a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0003g0085 a0001c0001t0004g0150 a0001c0001t0005g0119 a0001c0002t0001g0089 a0001c0002t0002g0093 a0001c0002t0003g0071 a0001c0002t0007g0099 a0001c0003t0002g0086 a0001c0003t0002g0103 a0001c0003t0002g0148 a0001c0003t0003g0005 a0001c0004t0001g0115 a0001c0005t0003g0009 a0001c0005t0003g0054 a0001c0005t0003g0144 a0001c0006t0005g0100 a0002c0011t0002g0096	24	158	0.1519	-36	c.461 others(55): Show c.461+33988_461+34023delTAGATGATAGATAGATAGATAGATAG ATAGATAGAT		GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161463551	TTATTTAT others(29): Show TTATTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0247 a0001c0002t0011g0247	1	266	0.0038	-36	c.238 others(53): Show c.238-3743_238-3708delTATATATATATATATATATATATATATA TATAAATA		GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9						chr5	TogoVar
GABRB3_chr15_26538552_26778066	26764167	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	204	0.0049	-36	c.240 others(53): Show c.240+8199_240+8234delATATATATATATATATATATATATTTTT TTTTTTTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRG1_chr4_46030769_46129054	46117884	ATCTATAT others(29): Show ATCTATATACATATATACATATGTATACATGTGTATC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02622.hp1 others(1): Show HG02145.hp1 HG02572.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0055 a0001c0002t0007g0052 a0001c0002t0007g0053 others(1): Show a0001c0001t0001g0055 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054	4	308	0.0130	-36	c.104 others(53): Show c.104+5890_104+5925delGATACACATGTATACATATGTATATATG TATATAGA		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GADL1_chr3_30721197_30899661	30740985	TATATATT others(29): Show TATATATTATATATTAATATATATTATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00673.hp2 others(50): Show HG00544.hp1 HG00639.hp2 HG00673.hp2 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp2 NA18747.hp1 NA18951.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0011	a0001c0001 a0002c0002 a0008c0011 others(2): Show a0001c0001 a0002c0002 a0008c0011 a0010c0006 a0011c0013	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 others(13): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0002t0003 a0008c0011t0003 a0010c0006t0040 a0011c0013t0014	a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0036 others(50): Show a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0103 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0143 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0208 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0248 a0001c0001t0003g0262 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0008g0101 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0014g0015 a0001c0001t0015g0033 a0001c0001t0015g0040 a0001c0001t0016g0279 a0001c0001t0016g0280 a0001c0001t0021g0012 a0001c0001t0024g0206 a0001c0001t0033g0065 a0001c0001t0034g0213 a0001c0001t0035g0141 a0001c0001t0036g0100 a0001c0001t0037g0021 a0002c0002t0003g0114 a0002c0002t0003g0216 a0002c0002t0003g0218 a0008c0011t0003g0269 a0010c0006t0040g0282 a0011c0013t0014g0013	53	282	0.1879	-36	c.139 others(57): Show c.1393-12606_1393-12571delTATATAATATATAATATATATTAA TATATAATATAT		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14						chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805638	TCCCCCCT others(29): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	314	0.0032	-36	c.14 others(47): Show c.1473_*1508delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TC		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1352		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806305	CTCCCCCC others(29): Show CTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	314	0.0032	-36	c.21 others(47): Show c.2140_*2175delTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCAC CT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2019		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806765	CCCCTCAG others(29): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	314	0.0032	-36	c.26 others(47): Show c.2600_*2635delCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2479		chr2	TogoVar
GALK2_chr15_49165247_49336882	49259214	TTTTAGGG others(29): Show TTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTAC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0316 a0001c0001t0027g0316	1	348	0.0029	-36	c.504 others(55): Show c.504+19848_504+19883delTTTAGGGTACATGTGCACAATGTGCA GGTTAGTTAC		GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9						chr15	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(29): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp1 NA19010.hp1 others(1): Show HG01074.hp2 HG01123.hp1 NA19010.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0191 a0001c0001t0001g0289 a0001c0001t0001g0303 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0289 a0001c0001t0001g0303 a0001c0004t0001g0045	4	404	0.0099	-36	c.100 others(53): Show c.1002+757_1002+792delCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831306	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01243.hp1 others(13): Show HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02148.hp1 HG02258.hp1 HG02602.hp1 HG02818.hp1 HG02886.hp1 HG03453.hp1 HG03516.hp1 NA18982.hp1 NA18983.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0011 a0002c0003 a0003c0006 a0001c0011 a0002c0003 a0003c0006	a0001c0011t0002 a0002c0003t0001 a0003c0006t0001 others(1): Show a0001c0011t0002 a0002c0003t0001 a0003c0006t0001 a0003c0006t0006	a0001c0011t0002g0174 a0002c0003t0001g0002 a0002c0003t0001g0023 others(12): Show a0001c0011t0002g0174 a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0223 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0375 a0003c0006t0001g0022 a0003c0006t0006g0393 a0003c0006t0006g0396 a0003c0006t0006g0397	16	404	0.0396	-36	c.100 others(53): Show c.1002+656_1002+691delTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831342	AGCGTGGG others(29): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 NA18993.hp1 HG02976.hp2 HG03486.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0215 a0001c0001t0001g0384 a0001c0001t0019g0235 a0001c0001t0001g0215 a0001c0001t0001g0384 a0001c0001t0019g0235	3	404	0.0074	-36	c.100 others(53): Show c.1002+620_1002+655delACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831594	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01243.hp1 others(13): Show HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp1 HG02602.hp1 HG02818.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0002g0011 a0001c0002t0001g0070 a0001c0002t0002g0143 others(12): Show a0001c0001t0002g0011 a0001c0002t0001g0070 a0001c0002t0002g0143 a0001c0002t0002g0370 a0001c0002t0002g0371 a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0223 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0375	16	404	0.0396	-36	c.100 others(53): Show c.1002+368_1002+403delTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar

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Search Results (Total: 3870 hits)