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	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
ALMS1_chr2_73380836_73614916	73568995	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp1 HG03225.hp2 others(24): Show HG02698.hp2 HG03017.hp1 HG03225.hp2 HG03927.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19074.hp2 NA19089.hp1 NA20905.hp2	a0003 a0022 a0039 others(2): Show a0003 a0022 a0039 a0041 a0054	a0003c0002 a0022c0028 a0039c0037 others(2): Show a0003c0002 a0022c0028 a0039c0037 a0041c0035 a0054c0069	a0003c0002t0001 a0022c0028t0001 a0039c0037t0001 others(2): Show a0003c0002t0001 a0022c0028t0001 a0039c0037t0001 a0041c0035t0001 a0054c0069t0001	a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 others(24): Show a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0022c0028t0001g0009 a0022c0028t0001g0010 a0039c0037t0001g0032 a0041c0035t0001g0016 a0054c0069t0001g0162	27	248	0.1089	-15	c.103 others(36): Show c.10385-3244_10385-3230delTTTTTTTTTTTTTTT		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12B_chr17_8067636_8092716	8072359	CAAGGTCC others(8): Show CAAGGTCCCAGCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	462	0.0022	-15	c.39 others(24): Show c.397_*411delAAAGGCTGGGACCTT		ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding					276		chr17	TogoVar
ALOX5AP_chr13_30730543_30769426	30741103	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01884.hp1 HG02109.hp1 HG01168.hp2 HG01884.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0176 a0001c0001t0002g0177 a0001c0001t0001g0068 a0001c0001t0001g0176 a0001c0001t0002g0177	3	422	0.0071	-15	c.71- others(30): Show c.71-2936_71-2922delTTTTTTTTTTTTTTT		ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr13	TogoVar
ALOX5_chr10_45369216_45451117	45391015	TCCCATCT others(8): Show TCCCATCTCCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0140 a0001c0009t0001g0140	1	345	0.0029	-15	c.350 others(32): Show c.350-4836_350-4822delATCTCCCCTCTCCCC		ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107937	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19065.hp1 NA19087.hp2 HG02083.hp2 NA19065.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0207 a0001c0002t0001g0212 a0001c0002t0001g0303 a0001c0001t0002g0207 a0001c0002t0001g0212 a0001c0002t0001g0303	3	422	0.0071	-15	c.168 others(32): Show c.1684+516_1684+530delTTTCTTTCTTTCTTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107959	AAGGAAGG others(8): Show AAGGAAGGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0359 a0001c0001t0002g0359	1	422	0.0024	-15	c.168 others(32): Show c.1684+494_1684+508delCTCTCTCTCCTTCCT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPI_chr2_232451153_232465753	232465431	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 NA18954.hp1 NA18961.hp1 others(1): Show HG01069.hp1 NA18954.hp1 NA18961.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0004g0004 a0001c0001t0005g0004 a0001c0001t0001g0002 a0001c0001t0004g0004 a0001c0001t0005g0004	4	446	0.0090	-15	c.62 others(26): Show c.6286_*6300delTTTTATTTTATTTTA		ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding					4679		chr2	TogoVar
ALPK2_chr18_58476247_58634091	58478675	CTAAGTAT others(8): Show CTAAGTATATACACTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0021 a0039 a0021 a0039	a0021c0073 a0039c0095 a0021c0073 a0039c0095	a0021c0073t0001 a0039c0095t0001 a0021c0073t0001 a0039c0095t0001	a0021c0073t0001g0168 a0039c0095t0001g0142 a0021c0073t0001g0168 a0039c0095t0001g0142	2	320	0.0063	-15	c.31 others(26): Show c.3133_*3147delTAGTGTATATACTTA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					2571		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58512954	TTGTATGT others(8): Show TTGTATGTGTGGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0022 a0020c0019t0022	a0020c0019t0022g0233 a0020c0019t0022g0233	1	320	0.0031	-15	c.602 others(34): Show c.6029+2024_6029+2038delCACACCACACATACA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	10/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58537155	ACAGTTGA others(8): Show ACAGTTGATGTGTCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0002 a0004 a0011 others(26): Show a0002 a0004 a0011 a0012 a0013 a0015 a0016 a0017 a0020 a0022 a0024 a0026 a0028 a0030 a0032 a0033 a0035 a0038 a0041 a0048 a0050 a0052 a0054 a0055 a0056 a0061 a0062 a0063 a0064	a0002c0002 a0002c0014 a0002c0079 others(40): Show a0002c0002 a0002c0014 a0002c0079 a0002c0080 a0004c0004 a0004c0056 a0004c0068 a0011c0020 a0011c0021 a0012c0023 a0012c0083 a0012c0092 a0012c0093 a0013c0009 a0015c0013 a0016c0018 a0016c0067 a0017c0017 a0017c0052 a0020c0019 a0022c0022 a0024c0025 a0026c0042 a0026c0043 a0028c0054 a0028c0055 a0030c0030 a0032c0076 a0032c0078 a0033c0038 a0035c0036 a0038c0044 a0041c0065 a0048c0053 a0050c0050 a0052c0075 a0054c0072 a0055c0090 a0056c0091 a0061c0084 a0062c0077 a0063c0081 a0064c0082	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(71): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0014t0001 a0002c0014t0004 a0002c0014t0020 a0002c0079t0001 a0002c0080t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0011 a0004c0004t0018 a0004c0004t0021 a0004c0056t0006 a0004c0068t0002 a0011c0020t0002 a0011c0020t0003 a0011c0020t0008 a0011c0021t0001 a0011c0021t0006 a0012c0023t0001 a0012c0023t0010 a0012c0023t0013 a0012c0083t0010 a0012c0092t0003 a0012c0093t0001 a0013c0009t0001 a0013c0009t0003 a0013c0009t0006 a0015c0013t0005 a0015c0013t0009 a0016c0018t0005 a0016c0018t0012 a0016c0067t0009 a0017c0017t0010 a0017c0017t0012 a0017c0017t0023 a0017c0052t0013 a0020c0019t0002 a0020c0019t0005 a0020c0019t0022 a0022c0022t0004 a0024c0025t0010 a0024c0025t0014 a0026c0042t0001 a0026c0043t0008 a0028c0054t0005 a0028c0055t0005 a0030c0030t0001 a0030c0030t0006 a0032c0076t0010 a0032c0078t0008 a0033c0038t0004 a0035c0036t0003 a0035c0036t0013 a0038c0044t0002 a0041c0065t0011 a0048c0053t0001 a0050c0050t0006 a0052c0075t0002 a0054c0072t0003 a0055c0090t0001 a0056c0091t0003 a0061c0084t0004 a0062c0077t0005 a0063c0081t0005 a0064c0082t0005	a0002c0002t0001g0126 a0002c0002t0001g0146 a0002c0002t0001g0147 others(134): Show a0002c0002t0001g0126 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0166 a0002c0002t0001g0174 a0002c0002t0001g0178 a0002c0002t0001g0185 a0002c0002t0001g0200 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0002g0002 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0072 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0148 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0301 a0002c0002t0003g0318 a0002c0002t0004g0121 a0002c0002t0004g0280 a0002c0002t0004g0297 a0002c0002t0005g0289 a0002c0002t0005g0307 a0002c0002t0007g0061 a0002c0002t0007g0075 a0002c0014t0001g0249 a0002c0014t0004g0133 a0002c0014t0004g0134 a0002c0014t0020g0089 a0002c0079t0001g0220 a0002c0080t0001g0300 a0004c0004t0001g0154 a0004c0004t0001g0207 a0004c0004t0001g0216 a0004c0004t0001g0229 a0004c0004t0001g0235 a0004c0004t0001g0260 a0004c0004t0001g0302 a0004c0004t0002g0034 a0004c0004t0002g0035 a0004c0004t0002g0067 a0004c0004t0002g0068 a0004c0004t0002g0078 a0004c0004t0002g0079 a0004c0004t0003g0125 a0004c0004t0003g0184 a0004c0004t0003g0226 a0004c0004t0003g0227 a0004c0004t0003g0253 a0004c0004t0003g0310 a0004c0004t0003g0311 a0004c0004t0004g0165 a0004c0004t0004g0208 a0004c0004t0004g0209 a0004c0004t0004g0257 a0004c0004t0005g0228 a0004c0004t0006g0033 a0004c0004t0006g0037 a0004c0004t0011g0094 a0004c0004t0018g0025 a0004c0004t0021g0117 a0004c0056t0006g0088 a0004c0068t0002g0076 a0011c0020t0002g0014 a0011c0020t0003g0254 a0011c0020t0008g0143 a0011c0021t0001g0274 a0011c0021t0001g0275 a0011c0021t0006g0066 a0012c0023t0001g0137 a0012c0023t0010g0097 a0012c0023t0013g0092 a0012c0083t0010g0103 a0012c0092t0003g0320 a0012c0093t0001g0140 a0013c0009t0001g0290 a0013c0009t0003g0306 a0013c0009t0006g0006 a0013c0009t0006g0008 a0013c0009t0006g0016 a0015c0013t0005g0224 a0015c0013t0009g0007 a0015c0013t0009g0009 a0015c0013t0009g0013 a0016c0018t0005g0144 a0016c0018t0005g0158 a0016c0018t0012g0098 a0016c0067t0009g0042 a0017c0017t0010g0105 a0017c0017t0012g0096 a0017c0017t0023g0139 a0017c0052t0013g0115 a0020c0019t0002g0051 a0020c0019t0005g0141 a0020c0019t0022g0233 a0022c0022t0004g0138 a0022c0022t0004g0145 a0022c0022t0004g0150 a0024c0025t0010g0110 a0024c0025t0014g0109 a0024c0025t0014g0111 a0026c0042t0001g0244 a0026c0043t0008g0159 a0028c0054t0005g0152 a0028c0055t0005g0163 a0030c0030t0001g0242 a0030c0030t0006g0081 a0032c0076t0010g0114 a0032c0078t0008g0284 a0033c0038t0004g0281 a0033c0038t0004g0282 a0035c0036t0003g0319 a0035c0036t0013g0107 a0038c0044t0002g0011 a0041c0065t0011g0095 a0048c0053t0001g0309 a0050c0050t0006g0080 a0052c0075t0002g0046 a0054c0072t0003g0161 a0055c0090t0001g0132 a0056c0091t0003g0131 a0061c0084t0004g0199 a0062c0077t0005g0272 a0063c0081t0005g0269 a0064c0082t0005g0175	137	320	0.4281	-15	c.301 others(24): Show c.3017_3031delAGGACACATCAACTG	p.Glu others(15): Show p.Glu1006_Thr1010del	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	5/13	3379/7437	3017/6513	1006/2170			chr18	TogoVar
ALX3_chr1_110054870_110075672	110062630	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02257.hp2 HG02280.hp1 others(12): Show HG00642.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03209.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0077 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0099	15	422	0.0356	-15	c.595 others(32): Show c.595-1082_595-1068delCACACACACACACAC		ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3						chr1	TogoVar
ALX4_chr11_44255440_44315139	44302643	TGAGCCTG others(8): Show TGAGCCTGGTCACAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02922.hp1 others(9): Show HG01243.hp2 HG02572.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0004c0009 a0004c0023 others(2): Show a0001c0002 a0004c0009 a0004c0023 a0004c0024 a0006c0022	a0001c0002t0013 a0004c0009t0007 a0004c0009t0009 others(6): Show a0001c0002t0013 a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 a0004c0009t0013 a0004c0009t0016 a0004c0023t0044 a0004c0024t0001 a0006c0022t0009	a0001c0002t0013g0268 a0004c0009t0007g0170 a0004c0009t0009g0168 others(9): Show a0001c0002t0013g0268 a0004c0009t0007g0170 a0004c0009t0009g0168 a0004c0009t0009g0169 a0004c0009t0009g0172 a0004c0009t0009g0174 a0004c0009t0011g0176 a0004c0009t0013g0171 a0004c0009t0016g0175 a0004c0023t0044g0167 a0004c0024t0001g0173 a0006c0022t0009g0166	12	388	0.0309	-15	c.466 others(32): Show c.466+6939_466+6953delTTTGTGACCAGGCTC		ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	160	0.0063	-15	c.340 others(34): Show c.3404-2545_3404-2531delAAAAAAAAAAAAAAA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46411100	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	160	0.0063	-15	c.311 others(32): Show c.3117-747_3117-733delCTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	15/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46530170	AACGTATT others(8): Show AACGTATTTGCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp2 HG03225.hp2 others(1): Show HG02280.hp2 HG02818.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(1): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007	4	160	0.0250	-15	c.207 others(36): Show c.2072+11760_2072+11774delGTGCTGCAAATACGT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	160	0.0125	-15	c.-12 others(34): Show c.-120-3883_-120-3869delTTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG02258.hp1 others(2): Show HG01261.hp2 HG02129.hp2 HG02258.hp1 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0002t0002g0147 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0153	5	160	0.0313	-15	c.-18 others(26): Show c.-1843_-1829delTTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding					1513		chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2516352	TCCACCTG others(8): Show TCCACCTGCTTCTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	318	0.0031	-15	c.-41 others(26): Show c.-4106_-4092delCCACCTGCTTCTGCC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					4018		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2520549	CGGGCCGG others(8): Show CGGGCCGGGGACTGCG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	318	0.0031	-15	c.83+ others(26): Show c.83+13_83+27delCGGGGACTGCGGGGC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2526138	GCTTGCCC others(8): Show GCTTGCCCAGGCTGCC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19240.hp2 NA20129.hp1 HG03579.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0009g0086 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0009g0086	3	318	0.0094	-15	c.361 others(32): Show c.361-1422_361-1408delCTTGCCCAGGCTGCC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	3/10						chr16	TogoVar
AMHR2_chr12_53418855_53436672	53436176	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	356	0.0028	-15	c.47 others(26): Show c.4704_*4718delAAAAAAAAAGAAAAG		AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding					4505		chr12	TogoVar
AMOTL1_chr11_94763356_94881748	94787687	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01256.hp2 others(10): Show HG00642.hp2 HG01106.hp1 HG01256.hp2 HG01515.hp2 HG01978.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02809.hp1 NA18951.hp1 NA18956.hp1 NA18992.hp1 NA19005.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0032 a0001c0002t0019 a0005c0008t0015	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0015g0212 a0001c0001t0019g0064 a0001c0001t0020g0220 a0001c0001t0032g0068 a0001c0002t0019g0104 a0005c0008t0015g0224	13	246	0.0529	-15	c.50- others(30): Show c.50-7298_50-7284delAAAAAAAAAAAAAAA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPD1_chr1_114668098_114700546	114689308	ACTTGGTG others(8): Show ACTTGGTGATATGCTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	358	0.0028	-15	c.35- others(28): Show c.35-582_35-568delCAGCATATCACCAAG		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	2/15						chr1	TogoVar
AMPD3_chr11_10450264_10512579	10450268	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0159 a0001c0002t0003g0159	1	390	0.0026	-15	c.-51 others(26): Show c.-5185_-5171delTGTGTGTGTGTGTGT		AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding					4995		chr11	TogoVar
AMPH_chr7_38378704_38636373	38610323	AAAGAAAA others(8): Show AAAGAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	288	0.0035	-15	c.69+ others(32): Show c.69+20945_69+20959delCTTTTTTCTTTTCTT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38610367	AGAAAAGA others(8): Show AGAAAAGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	288	0.0035	-15	c.69+ others(32): Show c.69+20901_69+20915delCTTTCCTTTCTTTTC		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
AMTN_chr4_70513569_70537743	70521640	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0088 a0001c0001t0004g0086 a0001c0001t0001g0088 a0001c0001t0004g0086	2	458	0.0044	-15	c.55- others(30): Show c.55-1093_55-1079delTTTTTTTTTTTTTTT		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145098735	AAACCTGC others(8): Show AAACCTGCTGGAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02486.hp1 others(5): Show HG01261.hp1 HG02055.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02896.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113	8	336	0.0238	-15	c.-64 others(24): Show c.-643_-629delCCTCTCCAGCAGGTT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding					540		chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218160	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG02523.hp2 others(1): Show HG01074.hp1 HG01074.hp2 HG02523.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0005g0231 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0005g0231 a0001c0001t0008g0106	4	352	0.0114	-15	c.-28 others(32): Show c.-28+2024_-28+2038delAAAAATATATATATA		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218162	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	352	0.0028	-15	c.-28 others(32): Show c.-28+2026_-28+2040delAAATATATATATATA		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218166	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	352	0.0028	-15	c.-28 others(32): Show c.-28+2029_-28+2043delTATATATATATATAT		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3						chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72223082	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	352	0.0028	-15	c.-27 others(30): Show c.-27-793_-27-779delTTTTTTTTTTTTTTT		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC5_chr12_121303245_121357411	121331926	TGAATTCC others(8): Show TGAATTCCTGGACTCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	278	0.0036	-15	c.951 others(30): Show c.951-513_951-499delTGAGTCCAGGAATTC		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding	7/16						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0298 a0001c0001t0012g0298	1	298	0.0034	-15	c.58 others(26): Show c.5821_*5835delTTTTTTTTTTTTTTT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding					4591		chr12	TogoVar
ANGEL1_chr14_76781009_76817882	76799278	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	396	0.0025	-15	c.161 others(34): Show c.1618+4078_1618+4092delAAAAAAAAAAAAAAA		ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9						chr14	TogoVar
ANGPTL5_chr11_101885674_101921522	101911094	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0189 a0001c0001t0001g0044 a0001c0001t0001g0189	3	422	0.0071	-15	c.-92 others(32): Show c.-92-3108_-92-3094delAAAAAAAAAAAAAAA		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding	1/8						chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10088953	TATAATAA others(8): Show TATAATAATAATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	462	0.0022	-15	c.36 others(26): Show c.3621_*3635delTATTATTATTATTAT		ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding					3384		chr19	TogoVar
ANK1_chr8_41648225_41802622	41721656	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(47): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp1 NA18973.hp2 NA18981.hp2 NA18988.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19067.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0018 a0001c0040 a0010c0048	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(16): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0014 a0001c0003t0019 a0001c0005t0001 a0001c0005t0003 a0001c0005t0028 a0001c0005t0029 a0001c0006t0001 a0001c0006t0003 a0001c0006t0005 a0001c0009t0002 a0001c0012t0001 a0001c0018t0001 a0001c0018t0026 a0001c0040t0001 a0010c0048t0001	a0001c0001t0001g0214 a0001c0003t0001g0049 a0001c0003t0001g0057 others(47): Show a0001c0001t0001g0214 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0093 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0221 a0001c0003t0001g0237 a0001c0003t0001g0261 a0001c0003t0002g0067 a0001c0003t0002g0163 a0001c0003t0002g0199 a0001c0003t0009g0170 a0001c0003t0014g0065 a0001c0003t0019g0068 a0001c0005t0001g0083 a0001c0005t0001g0101 a0001c0005t0003g0032 a0001c0005t0028g0112 a0001c0005t0029g0111 a0001c0006t0001g0100 a0001c0006t0003g0005 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0005g0015 a0001c0009t0002g0046 a0001c0009t0002g0047 a0001c0009t0002g0052 a0001c0009t0002g0059 a0001c0009t0002g0061 a0001c0009t0002g0069 a0001c0009t0002g0082 a0001c0012t0001g0138 a0001c0018t0001g0147 a0001c0018t0001g0156 a0001c0018t0026g0113 a0001c0040t0001g0087 a0010c0048t0001g0182	50	278	0.1799	-15	c.909 others(32): Show c.909+1454_909+1468delTTTTTTTTTTTTTTT		ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	9/42						chr8	TogoVar
ANK2_chr4_113044653_113388736	113233104	CTGTTTTT others(8): Show CTGTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02451.hp2 others(2): Show HG00738.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0178 a0002c0002t0001g0035 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0178 a0002c0002t0001g0035 a0002c0002t0001g0047 a0002c0002t0001g0088	5	178	0.0281	-15	c.483 others(30): Show c.483+847_483+861delGTTTTTTTTTTTTTT		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	5/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113334055	CAGCTAGA others(8): Show CAGCTAGACACTCAAG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 NA18980.hp1 HG00609.hp1 HG02056.hp2 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0119 a0002c0002t0001g0161 a0002c0002t0004g0156 a0002c0002t0001g0119 a0002c0002t0001g0161 a0002c0002t0004g0156	3	178	0.0169	-15	c.337 others(32): Show c.3379+851_3379+865delTAGACACTCAAGAGC		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60104357	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(39): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG01070.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18973.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19091.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0006 a0008 a0010 a0015 a0016 a0018 a0020 a0023 a0026	a0001c0001 a0001c0002 a0001c0007 others(25): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0025 a0001c0027 a0001c0041 a0001c0043 a0001c0054 a0001c0067 a0001c0068 a0001c0070 a0001c0074 a0001c0075 a0001c0085 a0003c0009 a0004c0010 a0006c0020 a0006c0090 a0008c0072 a0010c0053 a0010c0088 a0015c0049 a0016c0040 a0018c0031 a0020c0032 a0023c0042 a0026c0059	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0033 a0001c0001t0034 a0001c0002t0018 a0001c0007t0003 a0001c0007t0023 a0001c0008t0013 a0001c0025t0004 a0001c0027t0008 a0001c0041t0004 a0001c0043t0015 a0001c0054t0005 a0001c0067t0005 a0001c0068t0002 a0001c0070t0002 a0001c0074t0004 a0001c0075t0002 a0001c0085t0001 a0003c0009t0004 a0004c0010t0001 a0006c0020t0030 a0006c0090t0002 a0008c0072t0001 a0010c0053t0002 a0010c0088t0032 a0015c0049t0001 a0016c0040t0056 a0018c0031t0059 a0020c0032t0019 a0023c0042t0002 a0026c0059t0036	a0001c0001t0001g0133 a0001c0001t0001g0171 a0001c0001t0002g0043 others(39): Show a0001c0001t0001g0133 a0001c0001t0001g0171 a0001c0001t0002g0043 a0001c0001t0002g0075 a0001c0001t0002g0135 a0001c0001t0004g0085 a0001c0001t0004g0112 a0001c0001t0006g0003 a0001c0001t0009g0016 a0001c0001t0010g0019 a0001c0001t0033g0018 a0001c0001t0034g0058 a0001c0002t0018g0168 a0001c0007t0003g0021 a0001c0007t0003g0056 a0001c0007t0023g0061 a0001c0008t0013g0125 a0001c0025t0004g0022 a0001c0027t0008g0029 a0001c0041t0004g0184 a0001c0043t0015g0187 a0001c0054t0005g0151 a0001c0067t0005g0121 a0001c0068t0002g0138 a0001c0070t0002g0095 a0001c0074t0004g0150 a0001c0075t0002g0071 a0001c0085t0001g0091 a0003c0009t0004g0048 a0003c0009t0004g0186 a0004c0010t0001g0181 a0006c0020t0030g0002 a0006c0090t0002g0190 a0008c0072t0001g0128 a0010c0053t0002g0027 a0010c0088t0032g0005 a0015c0049t0001g0158 a0016c0040t0056g0137 a0018c0031t0059g0105 a0020c0032t0019g0191 a0023c0042t0002g0069 a0026c0059t0036g0183	42	192	0.2188	-15	c.332 others(34): Show c.3328+1533_3328+1547delTTTTTTTTTTTTTTT		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43						chr10	TogoVar
ANK3_chr10_60021298_60394875	60321399	GAAGAAAA others(8): Show GAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01361.hp1 others(26): Show HG00408.hp2 HG00544.hp2 HG01361.hp1 HG01928.hp1 HG01934.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03239.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 NA18942.hp1 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18994.hp1 NA18999.hp1 NA19005.hp1 NA19058.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0001c0039 a0001c0045 a0002c0004 a0003c0006 a0005c0003 a0005c0082	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0041 a0001c0002t0001 a0001c0002t0005 a0001c0002t0018 a0001c0002t0020 a0001c0015t0004 a0001c0015t0021 a0001c0039t0012 a0001c0045t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0003c0006t0002 a0005c0003t0002 a0005c0082t0027	a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0167 others(26): Show a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0003g0160 a0001c0001t0004g0154 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0166 a0001c0001t0017g0177 a0001c0001t0041g0162 a0001c0002t0001g0161 a0001c0002t0005g0134 a0001c0002t0018g0168 a0001c0002t0020g0164 a0001c0015t0004g0035 a0001c0015t0021g0149 a0001c0039t0012g0034 a0001c0045t0003g0169 a0002c0004t0001g0173 a0002c0004t0002g0156 a0002c0004t0004g0175 a0003c0006t0002g0157 a0005c0003t0002g0153 a0005c0003t0002g0170 a0005c0003t0002g0176 a0005c0082t0027g0097	29	192	0.1510	-15	c.115 others(34): Show c.115-41775_115-41761delTTCTTTTCTTTTCTT		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43						chr10	TogoVar
ANKAR_chr2_189669670_189751647	189725909	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	296	0.0034	-15	c.263 others(34): Show c.2636-1936_2636-1922delAAAAGAAAAGAAAAG		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189742966	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18990.hp2 HG02809.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0176 a0001c0001t0001g0052 a0001c0001t0001g0176	2	296	0.0068	-15	c.381 others(32): Show c.3811-307_3811-293delACACACACACACACC		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64954062	CTTTCTTC others(8): Show CTTTCTTCTTCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0145 a0002c0003t0002g0145	1	338	0.0030	-15	c.148 others(34): Show c.1484-3038_1484-3024delTCTTCTTCCTCTTTT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1B_chr5_75606453_75676846	75637240	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	372	0.0027	-15	c.798 others(32): Show c.798+1377_798+1391delAAAAAAAAAAAAAAA		ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75648253	TAAAAAAA others(8): Show TAAAAAAAAAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01884.hp2 others(3): Show HG01109.hp2 HG01167.hp1 HG01884.hp2 HG02145.hp2 HG03471.hp2 HG03516.hp1	a0002 a0011 a0025 a0002 a0011 a0025	a0002c0036 a0011c0012 a0025c0021 a0002c0036 a0011c0012 a0025c0021	a0002c0036t0003 a0011c0012t0004 a0025c0021t0022 a0002c0036t0003 a0011c0012t0004 a0025c0021t0022	a0002c0036t0003g0298 a0011c0012t0004g0299 a0011c0012t0004g0301 others(3): Show a0002c0036t0003g0298 a0011c0012t0004g0299 a0011c0012t0004g0301 a0011c0012t0004g0302 a0011c0012t0004g0303 a0025c0021t0022g0258	6	372	0.0161	-15	c.799 others(32): Show c.799-4876_799-4862delTTAAAAAAAAAAAAA		ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKFN1_chr17_56148475_56522016	56467776	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp2 NA19086.hp2 HG00639.hp2 HG02717.hp2 NA19086.hp2	a0002 a0011 a0002 a0011	a0002c0017 a0002c0030 a0011c0016 a0002c0017 a0002c0030 a0011c0016	a0002c0017t0010 a0002c0030t0001 a0011c0016t0012 a0002c0017t0010 a0002c0030t0001 a0011c0016t0012	a0002c0017t0010g0078 a0002c0030t0001g0047 a0011c0016t0012g0077 a0002c0017t0010g0078 a0002c0030t0001g0047 a0011c0016t0012g0077	3	112	0.0268	-15	c.177 others(34): Show c.1773+1223_1773+1237delGAAAGAAAGAAAGAA		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56467841	AGAAAGAA others(8): Show AGAAAGAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	112	0.0089	-15	c.177 others(34): Show c.1773+1272_1773+1286delAAAGAAAGAAAAAGG		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140419917	CCCCCTCC others(8): Show CCCCCTCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03669.hp2 HG04115.hp2 others(5): Show HG03540.hp1 HG03669.hp2 HG04115.hp2 NA18962.hp1 NA18963.hp2 NA18977.hp2 NA18978.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0108 others(5): Show a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0244	8	322	0.0248	-15	c.307 others(34): Show c.307-16140_307-16126delCCCTCCCCTCCCCTC		ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)