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.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02818.hp2 others(3): Show HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG04184.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0055 a0001c0004t0065 a0001c0005t0010 others(2): Show a0001c0001t0055 a0001c0004t0065 a0001c0005t0010 a0001c0005t0029 a0001c0007t0030	a0001c0001t0055g0087 a0001c0004t0065g0172 a0001c0005t0010g0082 others(3): Show a0001c0001t0055g0087 a0001c0004t0065g0172 a0001c0005t0010g0082 a0001c0005t0010g0148 a0001c0005t0029g0008 a0001c0007t0030g0013	6	190	0.0316	-24	c.963 others(43): Show c.963-21667_963-21644delTTTCTTTCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073614	GGAAGAGA others(17): Show GGAAGAGAAGAGAAGAGAAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	190	0.0053	-24	c.962 others(43): Show c.962+36447_962+36470delTCTTCTTTCTCTTCTCTTCTCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096616	GAAGGAGG others(17): Show GAAGGAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0183 a0001c0003t0025g0183	1	190	0.0053	-24	c.962 others(43): Show c.962+13445_962+13468delTCCTTCCTTCCTTCCTTCCTCCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096652	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18962.hp1 NA18978.hp2 others(1): Show NA18957.hp1 NA18962.hp1 NA18978.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0002t0054	a0001c0001t0001g0113 a0001c0001t0003g0114 a0001c0002t0004g0110 others(1): Show a0001c0001t0001g0113 a0001c0001t0003g0114 a0001c0002t0004g0110 a0001c0002t0054g0111	4	190	0.0211	-24	c.962 others(43): Show c.962+13409_962+13432delCCCTTCCTTCCTTCCTTCCTTCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096656	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00558.hp1 others(56): Show HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02809.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 NA18941.hp1 NA18950.hp1 NA18952.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0037 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0022 a0001c0002t0042 a0001c0002t0048 a0001c0002t0067 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0011 a0001c0004t0015 a0001c0005t0002 a0001c0005t0010 a0001c0005t0057 a0001c0006t0001 a0001c0008t0016 a0001c0013t0018 a0003c0012t0001	a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0136 others(56): Show a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0139 a0001c0001t0004g0109 a0001c0001t0004g0128 a0001c0001t0004g0143 a0001c0001t0005g0100 a0001c0001t0006g0131 a0001c0001t0006g0144 a0001c0001t0006g0156 a0001c0001t0007g0142 a0001c0001t0007g0150 a0001c0001t0008g0102 a0001c0001t0008g0117 a0001c0001t0009g0159 a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0011g0155 a0001c0001t0037g0157 a0001c0001t0047g0127 a0001c0001t0050g0151 a0001c0001t0051g0134 a0001c0001t0052g0108 a0001c0002t0002g0097 a0001c0002t0002g0129 a0001c0002t0007g0099 a0001c0002t0007g0121 a0001c0002t0007g0147 a0001c0002t0010g0149 a0001c0002t0022g0122 a0001c0002t0022g0137 a0001c0002t0042g0124 a0001c0002t0048g0031 a0001c0002t0067g0180 a0001c0003t0002g0098 a0001c0003t0002g0106 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0007g0133 a0001c0004t0001g0101 a0001c0004t0011g0138 a0001c0004t0015g0158 a0001c0005t0002g0115 a0001c0005t0010g0125 a0001c0005t0010g0148 a0001c0005t0057g0132 a0001c0006t0001g0135 a0001c0008t0016g0163 a0001c0013t0018g0164 a0003c0012t0001g0161	59	190	0.3105	-24	c.962 others(43): Show c.962+13405_962+13428delCCCTCCCTTCCTTCCTTCCTTCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT2_chr11_44090678_44256962	44119153	TATATATA others(17): Show TATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA20752.hp1 HG01099.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0251 a0001c0001t0031g0287 a0001c0001t0002g0251 a0001c0001t0031g0287	2	334	0.0060	-24	c.743 others(41): Show c.743+4854_743+4877delTATATATATATATATACACATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA2_chr20_46889843_47193844	46905939	TCTTCAGG others(17): Show TCTTCAGGTAGCTACCGTTTGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0002c0005t0001g0031 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0002c0005t0001g0031 a0002c0005t0001g0032 a0002c0005t0001g0033	5	238	0.0210	-24	c.-11 others(43): Show c.-11+10956_-11+10979delCAGGTAGCTACCGTTTGGGGACTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987954	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	238	0.0042	-24	c.-10 others(41): Show c.-10-2045_-10-2022delCTCTCTCTCTATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47080419	AGGGAGGG others(17): Show AGGGAGGGAGGGAAATGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02572.hp2 others(6): Show HG01891.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp2 HG02818.hp2 HG03209.hp1 HG06807.hp1 NA19043.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0006c0010t0001 a0001c0001t0001 a0001c0002t0001 a0006c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0002t0001g0122 a0006c0010t0001g0168	9	238	0.0378	-24	c.661 others(41): Show c.661+6109_661+6132delGGGAGGGAGGGAAATGAGGGAGGG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47135830	AAAAAAAA others(17): Show AAAAAAAAAAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01884.hp2 HG02451.hp2 others(16): Show HG00609.hp2 HG01884.hp2 HG02451.hp2 HG03927.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp1 NA18990.hp1 NA18992.hp2 NA19004.hp2 NA19010.hp1 NA19066.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001	a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0003g0051 others(16): Show a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0003g0051 a0001c0002t0001g0003 a0001c0002t0001g0063 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0001g0080 a0001c0003t0003g0111 a0001c0004t0001g0001 a0001c0004t0001g0076 a0001c0004t0001g0123 a0001c0004t0001g0127	19	238	0.0798	-24	c.889 others(41): Show c.889-7222_889-7199delAAAAACAAACAAACAAACAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156039	CACACACA others(17): Show CACACACACACACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00735.hp1 others(66): Show HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18990.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19066.hp2 NA19082.hp1 NA19090.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0003c0007 a0004c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0009t0001 a0001c0012t0001 a0003c0007t0001 a0004c0008t0001 a0004c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0091 others(66): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0235 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0081 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0217 a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0162 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0001g0080 a0001c0003t0001g0098 a0001c0003t0001g0103 a0001c0003t0002g0056 a0001c0003t0002g0186 a0001c0003t0002g0233 a0001c0003t0003g0018 a0001c0003t0003g0045 a0001c0003t0003g0111 a0001c0003t0003g0218 a0001c0004t0001g0001 a0001c0004t0001g0076 a0001c0004t0001g0123 a0001c0004t0001g0127 a0001c0009t0001g0095 a0001c0012t0001g0024 a0003c0007t0001g0007 a0003c0007t0001g0023 a0004c0008t0001g0147 a0004c0011t0001g0099	69	238	0.2899	-24	c.978 others(43): Show c.978+12905_978+12928delTATATATACATACACACACACACA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156125	CACATATA others(17): Show CACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG03453.hp1 others(1): Show HG01243.hp2 HG01358.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0002g0106 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0002g0106 a0001c0003t0001g0166	4	238	0.0168	-24	c.978 others(43): Show c.978+12979_979-12989delCATATATATATATATATATATATA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28020667	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18964.hp1 HG02735.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0242 a0001c0001t0026g0243 a0001c0001t0002g0242 a0001c0001t0026g0243	2	392	0.0051	-24	c.500 others(41): Show c.500-3452_500-3429delACACACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	7/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084579	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	392	0.0026	-24	c.-69 others(41): Show c.-69+3921_-69+3944delAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084581	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02071.hp1 HG02293.hp1 others(7): Show HG01928.hp2 HG02071.hp1 HG02293.hp1 NA18951.hp2 NA18964.hp2 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA18985.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012	a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0358 others(7): Show a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0004g0363 a0001c0001t0006g0357 a0001c0001t0006g0359 a0001c0001t0006g0361 a0001c0001t0012g0356 a0001c0001t0012g0362	10	392	0.0255	-24	c.-69 others(41): Show c.-69+3919_-69+3942delAAAAAAAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084583	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0383 a0001c0001t0004g0383	1	392	0.0026	-24	c.-69 others(41): Show c.-69+3917_-69+3940delAAAAAAAAAAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133385389	CTCTGTGT others(17): Show CTCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0047 a0001c0001t0042g0095 a0001c0001t0001g0047 a0001c0001t0042g0095	2	264	0.0076	-24	c.83+ others(39): Show c.83+2950_83+2973delCTGTGTGTGTGTGTGTGTGTGTGT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133385391	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG03540.hp1 HG02717.hp1 HG03486.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0001c0001t0028 a0002c0002t0001 a0001c0001t0020 a0001c0001t0028 a0002c0002t0001	a0001c0001t0020g0089 a0001c0001t0028g0142 a0002c0002t0001g0149 a0001c0001t0020g0089 a0001c0001t0028g0142 a0002c0002t0001g0149	3	264	0.0114	-24	c.83+ others(39): Show c.83+2977_83+3000delTGTGTGTGTGTGTGTGTGTGTGTG	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63798959	ATGTGTAT others(17): Show ATGTGTATATATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0004 a0014c0004	a0014c0004t0002 a0014c0004t0002	a0014c0004t0002g0024 a0014c0004t0002g0024	1	24	0.0417	-24	c.741 others(43): Show c.7411+7207_7411+7230delCATATACATATATATATATACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	37/42			chr6	TogoVar
EYS_chr6_63714980_65712226	63937345	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2	a0001 a0005 a0018 a0001 a0005 a0018	a0001c0009 a0005c0010 a0018c0016 a0001c0009 a0005c0010 a0018c0016	a0001c0009t0001 a0005c0010t0001 a0018c0016t0001 a0001c0009t0001 a0005c0010t0001 a0018c0016t0001	a0001c0009t0001g0012 a0005c0010t0001g0015 a0018c0016t0001g0003 a0001c0009t0001g0012 a0005c0010t0001g0015 a0018c0016t0001g0003	3	24	0.1250	-24	c.705 others(45): Show c.7055+47014_7055+47037delAAAAAAAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	35/42			chr6	TogoVar
F10_chr13_113117799_113154529	113148354	ATATATAT others(17): Show ATATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18959.hp2 NA18999.hp1 others(1): Show NA18947.hp1 NA18959.hp2 NA18999.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0236 a0001c0002t0001g0241 others(1): Show a0001c0002t0001g0200 a0001c0002t0001g0236 a0001c0002t0001g0241 a0001c0002t0001g0326	4	412	0.0097	-24	c.866 others(39): Show c.866-552_866-529delGTATATATATATGTGTATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113152617	AAGAGAGA others(17): Show AAGAGAGACAGAGACAGAGAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01516.hp2 HG02559.hp2 others(1): Show HG01257.hp1 HG01516.hp2 HG02559.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0322 a0001c0001t0001g0355 a0001c0002t0001g0025 others(1): Show a0001c0001t0001g0322 a0001c0001t0001g0355 a0001c0002t0001g0025 a0003c0005t0001g0027	4	412	0.0097	-24	c.31 others(35): Show c.3101_*3124delAGAGAGACAGAGACAGAGAGAAAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		3089		chr13	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA19240.hp2 others(1): Show HG01070.hp1 HG01071.hp2 NA19240.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0001c0001t0004 a0006c0014t0003 a0001c0001t0001 a0001c0001t0004 a0006c0014t0003	a0001c0001t0001g0024 a0001c0001t0004g0002 a0006c0014t0003g0213 others(1): Show a0001c0001t0001g0024 a0001c0001t0004g0002 a0006c0014t0003g0213 a0006c0014t0003g0214	4	292	0.0137	-24	c.130 others(41): Show c.130+2433_130+2456delATATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F2RL2_chr5_76610482_76628403	76614759	ATTTTGAT others(17): Show ATTTTGATTCCTAGAAGTTTCCAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01928.hp2 others(28): Show HG00558.hp1 HG00741.hp2 HG01928.hp2 HG01981.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp2 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19055.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 others(2): Show a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 a0002c0002t0028 a0002c0006t0005	a0002c0002t0005g0006 a0002c0002t0005g0042 a0002c0002t0005g0045 others(12): Show a0002c0002t0005g0006 a0002c0002t0005g0042 a0002c0002t0005g0045 a0002c0002t0005g0088 a0002c0002t0005g0097 a0002c0002t0005g0098 a0002c0002t0005g0133 a0002c0002t0010g0043 a0002c0002t0010g0044 a0002c0002t0010g0122 a0002c0002t0011g0083 a0002c0002t0011g0110 a0002c0002t0011g0130 a0002c0002t0028g0139 a0002c0006t0005g0099	31	474	0.0654	-24	c.27 others(35): Show c.2799_*2822delACTGGAAACTTCTAGGAATCAAAA	F2RL2	ENSG00000164220.7	transcript	ENST00000296641.5	protein_coding		722		chr5	TogoVar
F5_chr1_169506951_169591481	169577560	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG01256.hp1 HG01496.hp1	a0002 a0006 a0002 a0006	a0002c0010 a0006c0028 a0002c0010 a0006c0028	a0002c0010t0001 a0006c0028t0005 a0002c0010t0001 a0006c0028t0005	a0002c0010t0001g0210 a0006c0028t0005g0219 a0002c0010t0001g0210 a0006c0028t0005g0219	2	306	0.0065	-24	c.250 others(41): Show c.250+4847_250+4870delATATATATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577581	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18522.hp1 NA18957.hp2 HG02155.hp2 NA18522.hp1 NA18957.hp2	a0001 a0032 a0001 a0032	a0001c0004 a0032c0060 a0001c0004 a0032c0060	a0001c0004t0002 a0032c0060t0005 a0001c0004t0002 a0032c0060t0005	a0001c0004t0002g0023 a0001c0004t0002g0024 a0032c0060t0005g0297 a0001c0004t0002g0023 a0001c0004t0002g0024 a0032c0060t0005g0297	3	306	0.0098	-24	c.250 others(41): Show c.250+4826_250+4849delCATATATATATATATATATATATA	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F8_chrX_154830792_155027723	154935304	TAGAATTA others(17): Show TAGAATTAGCTATAAGAATTTATAG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0063	1	233	0.0043	-24	c.211 others(43): Show c.2114-3652_2114-3629delCTATAAATTCTTATAGCTAATTCT	F8	ENSG00000185010.15	transcript	ENST00000360256.9	protein_coding	13/25			chrX	TogoVar
F8_chrX_154830792_155027723	154935981	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp1 HG03704.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0076 a0001c0001t0001g0106	2	233	0.0086	-24	c.211 others(43): Show c.2114-4329_2114-4306delGTGTGTGTGTGTGTGTGTGTGTGT	F8	ENSG00000185010.15	transcript	ENST00000360256.9	protein_coding	13/25			chrX	TogoVar
F9_chrX_139525739_139568459	139536216	CATATATA others(17): Show CATATATATGTACACACATATATGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp1 NA19043.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	2	263	0.0076	-24	c.89- others(37): Show c.89-761_89-738delGTACACACATATATGTATATATAT	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57306855	ATATATAT others(17): Show ATATATATACACACTATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	282	0.0036	-24	c.276 others(41): Show c.276-3726_276-3703delACTATATATACACTATATATACAC	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP100_chr17_81534891_81557353	81535812	TCCATCAC others(17): Show TCCATCACCATCCCCCTCTCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	436	0.0023	-24	c.49 others(35): Show c.4983_*5006delGGATGGAGAGGGGGATGGTGATGG	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4078		chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542186	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp2 HG02717.hp1 others(8): Show HG01167.hp2 HG02257.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0127 a0002c0002t0005g0012 a0002c0002t0005g0058 others(3): Show a0001c0001t0001g0127 a0002c0002t0005g0012 a0002c0002t0005g0058 a0002c0002t0005g0262 a0002c0002t0005g0263 a0002c0002t0005g0264	11	436	0.0252	-24	c.242 others(41): Show c.2428-815_2428-792delATATATATATTTTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542188	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp2 NA19056.hp2 HG01106.hp2 HG03098.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0156	3	436	0.0069	-24	c.242 others(41): Show c.2428-817_2428-794delATATATATATATTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542190	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	436	0.0023	-24	c.242 others(41): Show c.2428-819_2428-796delATATATATATATATTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FABP3_chr1_31360253_31378076	31366058	ATGTATGT others(17): Show ATGTATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	388	0.0026	-24	c.349 others(39): Show c.349-143_349-120delCACACACACACACACACACATACA	FABP3	ENSG00000121769.8	transcript	ENST00000373713.7	protein_coding	3/3			chr1	TogoVar
FAF1_chr1_50432028_50965267	50490384	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0129 a0001c0001t0026g0129	1	190	0.0053	-24	c.165 others(41): Show c.1653+180_1653+203delCCTTCCTTCCTTCCTTCCTTCCTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	17/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746247	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp1 HG02129.hp1 others(10): Show HG01175.hp2 HG02027.hp1 HG02129.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0099 a0001c0001t0001g0166 a0001c0001t0001g0172 others(10): Show a0001c0001t0001g0099 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0007g0054 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0008g0143 a0001c0001t0009g0176	13	190	0.0684	-24	c.368 others(41): Show c.368-1496_368-1473delATATATATATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746270	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0160 a0001c0001t0008g0160	1	190	0.0053	-24	c.368 others(41): Show c.368-1519_368-1496delAATATATATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746272	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20752.hp2 HG02895.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0014 a0001c0001t0025g0111 a0001c0001t0015g0014 a0001c0001t0025g0111	2	190	0.0105	-24	c.368 others(41): Show c.368-1521_368-1498delAAAATATATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746274	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	190	0.0053	-24	c.368 others(41): Show c.368-1523_368-1500delAAAAAATATATATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746280	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18970.hp1 HG02132.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0035 a0001c0001t0017g0034 a0001c0001t0003g0035 a0001c0001t0017g0034	2	190	0.0105	-24	c.368 others(41): Show c.368-1529_368-1506delAAAAAAAAAAAATATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746282	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18979.hp1 NA18957.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0039 a0001c0001t0011g0038 a0001c0001t0003g0039 a0001c0001t0011g0038	2	190	0.0105	-24	c.368 others(41): Show c.368-1531_368-1508delAAAAAAAAAAAAAATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819717	GTATATAT others(17): Show GTATATATATATACATATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	190	0.0053	-24	c.115 others(43): Show c.115-18064_115-18041delTGTATATATATGTATATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819730	CATATATA others(17): Show CATATATATACATATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 NA19043.hp1 HG02723.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0008g0123 a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0008g0123	3	190	0.0158	-24	c.115 others(43): Show c.115-18077_115-18054delATGTATATATATATGTATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819741	ATATATAT others(17): Show ATATATATATACATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0190 a0001c0001t0043g0190	1	190	0.0053	-24	c.115 others(43): Show c.115-18088_115-18065delCGTATATATATATGTATATATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAIM2_chr12_49861896_49908900	49879469	CATGTGTA others(17): Show CATGTGTATGTGCATGTGAGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0002t0001 a0001c0002t0004 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0023 a0001c0002t0038 a0001c0002t0041 a0002c0003t0014 a0003c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0052 others(289): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0265 a0001c0001t0003g0281 a0001c0001t0003g0289 a0001c0001t0003g0309 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0338 a0001c0001t0003g0358 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0282 a0001c0001t0004g0286 a0001c0001t0004g0306 a0001c0001t0004g0337 a0001c0001t0004g0341 a0001c0001t0004g0357 a0001c0001t0004g0363 a0001c0001t0004g0366 a0001c0001t0005g0005 a0001c0001t0005g0248 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0329 a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0006g0003 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0056 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0121 a0001c0001t0006g0130 a0001c0001t0006g0134 a0001c0001t0006g0167 a0001c0001t0006g0180 a0001c0001t0006g0194 a0001c0001t0006g0197 a0001c0001t0006g0206 a0001c0001t0006g0210 a0001c0001t0006g0212 a0001c0001t0006g0218 a0001c0001t0006g0221 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0007g0007 a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0057 a0001c0001t0007g0060 a0001c0001t0007g0064 a0001c0001t0007g0069 a0001c0001t0007g0075 a0001c0001t0007g0078 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0089 a0001c0001t0007g0094 a0001c0001t0007g0207 a0001c0001t0007g0215 a0001c0001t0007g0231 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0243 a0001c0001t0008g0245 a0001c0001t0008g0254 a0001c0001t0008g0261 a0001c0001t0008g0274 a0001c0001t0008g0277 a0001c0001t0008g0287 a0001c0001t0008g0291 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0008g0297 a0001c0001t0008g0305 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0323 a0001c0001t0009g0077 a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0009g0112 a0001c0001t0009g0118 a0001c0001t0009g0122 a0001c0001t0009g0129 a0001c0001t0009g0144 a0001c0001t0009g0152 a0001c0001t0009g0158 a0001c0001t0009g0159 a0001c0001t0009g0162 a0001c0001t0009g0169 a0001c0001t0009g0172 a0001c0001t0009g0184 a0001c0001t0009g0240 a0001c0001t0010g0018 a0001c0001t0010g0020 a0001c0001t0010g0059 a0001c0001t0010g0190 a0001c0001t0010g0208 a0001c0001t0012g0298 a0001c0001t0012g0353 a0001c0001t0013g0116 a0001c0001t0013g0119 a0001c0001t0013g0120 a0001c0001t0013g0195 a0001c0001t0014g0009 a0001c0001t0015g0027 a0001c0001t0015g0209 a0001c0001t0015g0225 a0001c0001t0015g0232 a0001c0001t0016g0098 a0001c0001t0016g0099 a0001c0001t0016g0136 a0001c0001t0016g0236 a0001c0001t0016g0237 a0001c0001t0017g0022 a0001c0001t0017g0214 a0001c0001t0018g0011 a0001c0001t0018g0154 a0001c0001t0019g0104 a0001c0001t0019g0124 a0001c0001t0019g0150 a0001c0001t0020g0025 a0001c0001t0020g0145 a0001c0001t0021g0260 a0001c0001t0021g0275 a0001c0001t0021g0365 a0001c0001t0023g0024 a0001c0001t0024g0008 a0001c0001t0025g0034 a0001c0001t0025g0273 a0001c0001t0026g0039 a0001c0001t0026g0325 a0001c0001t0027g0097 a0001c0001t0027g0161 a0001c0001t0029g0127 a0001c0001t0029g0160 a0001c0001t0030g0109 a0001c0001t0030g0125 a0001c0001t0031g0084 a0001c0001t0031g0087 a0001c0001t0032g0023 a0001c0001t0033g0131 a0001c0001t0033g0148 a0001c0001t0034g0146 a0001c0001t0034g0238 a0001c0001t0035g0271 a0001c0001t0035g0342 a0001c0001t0036g0359 a0001c0001t0037g0132 a0001c0001t0040g0156 a0001c0001t0044g0241 a0001c0001t0045g0211 a0001c0001t0046g0196 a0001c0001t0047g0081 a0001c0001t0049g0183 a0001c0001t0050g0058 a0001c0001t0051g0173 a0001c0001t0052g0095 a0001c0001t0053g0220 a0001c0001t0055g0061 a0001c0001t0056g0354 a0001c0001t0058g0310 a0001c0001t0059g0263 a0001c0001t0061g0364 a0001c0001t0062g0311 a0001c0001t0063g0362 a0001c0001t0064g0299 a0001c0001t0065g0242 a0001c0001t0066g0316 a0001c0001t0067g0266 a0001c0001t0068g0321 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0004g0250 a0001c0002t0014g0093 a0001c0002t0017g0138 a0001c0002t0019g0143 a0001c0002t0020g0106 a0001c0002t0023g0157 a0001c0002t0038g0140 a0001c0002t0041g0142 a0002c0003t0014g0019 a0003c0004t0001g0227	349	436	0.8005	-24	c.801 others(41): Show c.801+7893_801+7916delATACACTCACATGCACATACACAT	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
FAIM2_chr12_49861896_49908900	49880374	ATGTGTGT others(17): Show ATGTGTGTCTATGTGTGCATGTGAG	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0172 a0001c0001t0009g0172	1	436	0.0023	-24	c.801 others(41): Show c.801+6988_801+7011delCTCACATGCACACATAGACACACA	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
FAM107B_chr10_14513557_14779897	14594538	AAATGCAT others(17): Show AAATGCATTCTCCAACTGGAATCCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	272	0.0037	-24	c.470 others(43): Show c.470-64047_470-64024delGGGATTCCAGTTGGAGAATGCATT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767077	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp2 HG02895.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0148 a0001c0001t0003g0003 a0001c0001t0003g0148	2	272	0.0074	-24	c.411 others(41): Show c.411+7152_411+7175delGTCTCTCTCTCTCTCTCTCTCTCT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767321	ACCTCATA others(17): Show ACCTCATATGATTCACCCACGTCAG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	272	0.0037	-24	c.411 others(41): Show c.411+6908_411+6931delCTGACGTGGGTGAATCATATGAGG	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)