Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
APOD_chr3_195563705_195588940	195586554	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01071.hp1 others(29): Show HG00280.hp1 HG00738.hp1 HG01071.hp1 HG01257.hp1 HG01358.hp1 HG02027.hp2 HG02071.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03688.hp2 HG03710.hp2 NA18522.hp2 NA18956.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA19030.hp1 NA19054.hp1 NA19067.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0129 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0108 a0001c0001t0003g0020 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0069 a0001c0001t0003g0141 a0001c0001t0003g0216 a0001c0001t0003g0256 a0001c0001t0004g0008 a0001c0001t0004g0046 a0001c0001t0004g0112 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0070 a0001c0001t0005g0098 a0001c0001t0005g0155 a0001c0001t0009g0064 a0001c0001t0013g0130	32	438	0.0731	12	c.-27 others(23): Show c.-2712_-2711insAAAAAAAAAAAA	APOD	ENSG00000189058.9	transcript	ENST00000343267.8	protein_coding		2615		chr3	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	AAAATATA others(5): Show AAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	278	0.0036	12	c.-46 others(21): Show c.-467_-466insATATATATATTT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOH_chr17_66207033_66234415	66221266	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18970.hp1 NA19009.hp2 HG02293.hp2 NA18970.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0142	3	386	0.0078	12	c.416 others(27): Show c.416-536_416-525dupCCTTCCTTCCTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66222113	A A	ACCGTGGT others(5): Show ACCGTGGTTCACG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	386	0.0026	12	c.416 others(29): Show c.416-1383_416-1372dupCGTGAACCACGG	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOL1_chr22_36248133_36272525	36269734	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02809.hp1 NA18959.hp1 others(1): Show HG01346.hp1 HG02809.hp1 NA18959.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0107 a0001c0001t0003g0001 a0001c0001t0010g0088 others(1): Show a0001c0001t0001g0107 a0001c0001t0003g0001 a0001c0001t0010g0088 a0001c0001t0020g0010	4	414	0.0097	12	c.37 others(23): Show c.3701_*3702insTTTGTTTGTTTG	APOL1	ENSG00000100342.22	transcript	ENST00000397278.8	protein_coding		2210		chr22	TogoVar
APOL3_chr22_36135329_36165755	36145976	C C	CCCTGTCT others(5): Show CCCTGTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 NA18522.hp1 HG02055.hp1 HG02922.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0001 a0002c0009t0005 a0001c0003t0001 a0002c0009t0005	a0001c0003t0001g0065 a0002c0009t0005g0196 a0002c0009t0005g0197 a0001c0003t0001g0065 a0002c0009t0005g0196 a0002c0009t0005g0197	3	366	0.0082	12	c.11- others(25): Show c.11-378_11-377insAAGAGAGACAGG	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AATATATA others(5): Show AATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02080.hp2 NA18963.hp1 others(6): Show HG00544.hp1 HG02080.hp2 NA18963.hp1 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19054.hp1 NA19056.hp2 NA19077.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	9	401	0.0224	12	c.-63 others(21): Show c.-637_-636insATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL6_chr22_35643446_35673404	35659753	C C	CTGTTTGT others(5): Show CTGTTTGTTTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG02165.hp1 others(7): Show HG00597.hp2 HG02071.hp1 HG02165.hp1 NA18522.hp1 NA18940.hp2 NA18962.hp1 NA18966.hp1 NA18975.hp1 NA18991.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0030 others(3): Show a0001c0001t0008 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0008g0011 a0001c0001t0008g0069 a0001c0001t0008g0073 others(6): Show a0001c0001t0008g0011 a0001c0001t0008g0069 a0001c0001t0008g0073 a0001c0001t0008g0075 a0001c0001t0029g0052 a0001c0001t0030g0072 a0001c0001t0031g0059 a0001c0001t0032g0014 a0001c0001t0033g0053	10	386	0.0259	12	c.17 others(21): Show c.179_*190dupGTTTGTTTGTTT	APOL6	ENSG00000221963.6	transcript	ENST00000409652.5	protein_coding	3/3	191	INFO_REALIGN_3_PRIME	chr22	TogoVar
APOL6_chr22_35643446_35673404	35672421	A A	AAACAGGG others(5): Show AAACAGGGATGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	386	0.0026	12	c.12 others(25): Show c.12825_*12826insAACAGGGATGAC	APOL6	ENSG00000221963.6	transcript	ENST00000409652.5	protein_coding		4018		chr22	TogoVar
APOM_chr6_31650894_31663210	31652320	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02083.hp1 HG02155.hp2 others(3): Show HG01261.hp1 HG02083.hp1 HG02155.hp2 HG02683.hp1 HG03239.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	419	0.0143	12	c.-36 others(23): Show c.-3647_-3646insACACACACACAC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3573		chr6	TogoVar
APOM_chr6_31650894_31663210	31652357	A A	ACACACAC others(5): Show ACACACACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	12	c.-36 others(23): Show c.-3610_-3609insCACACACCCACC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3536		chr6	TogoVar
APOOL_chrX_84998877_85098315	85005394	A A	ACGCCCCC others(5): Show ACGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0215 a0001c0001t0115g0215	1	256	0.0039	12	c.15+ others(27): Show c.15+1468_15+1469insGCCCCCCCCCCC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85008535	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00733.hp2 others(38): Show HG00438.hp2 HG00609.hp1 HG00733.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02965.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18969.hp2 NA18998.hp1 NA19007.hp1 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057	a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0112 others(38): Show a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0003g0097 a0001c0001t0003g0122 a0001c0001t0003g0180 a0001c0001t0005g0088 a0001c0001t0005g0142 a0001c0001t0005g0184 a0001c0001t0012g0188 a0001c0001t0013g0181 a0001c0001t0018g0168 a0001c0001t0018g0197 a0001c0001t0020g0185 a0001c0001t0052g0148 a0001c0001t0053g0152 a0001c0001t0054g0141 a0001c0001t0056g0150 a0001c0001t0057g0114	41	256	0.1602	12	c.15+ others(27): Show c.15+4636_15+4647dupGTGTGTGTGTGT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85015542	A A	ATATTTAT others(5): Show ATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0150 a0001c0001t0056g0150	1	256	0.0039	12	c.15+ others(29): Show c.15+11647_15+11658dupTTATTTATTTAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829571	A A	AATATATA others(5): Show AATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	269	0.0037	12	c.40 others(23): Show c.4070_*4071insATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3781		chrX	TogoVar
APOO_chrX_23828353_23912938	23837958	C C	CCTATCTA others(5): Show CCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0195 a0001c0001t0002g0166 a0001c0001t0002g0195	2	269	0.0074	12	c.29 others(29): Show c.29+2343_*29+2354dupATAGATAGATAG	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	8/8			chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp1 HG02027.hp1 others(30): Show HG00673.hp1 HG01884.hp1 HG02027.hp1 HG02056.hp1 HG02165.hp1 HG02258.hp1 HG02572.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03471.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18940.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18999.hp1 NA19012.hp1 NA19077.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0132 a0001c0001t0003g0267	33	269	0.1227	12	c.561 others(29): Show c.561+6707_561+6718dupTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APOO_chrX_23828353_23912938	23872521	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18946.hp2 NA18982.hp1 others(1): Show HG02886.hp2 NA18946.hp2 NA18982.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0248 others(1): Show a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0248 a0001c0001t0003g0255	4	269	0.0149	12	c.292 others(29): Show c.292+1870_292+1881dupTATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	4/8			chrX	TogoVar
APOO_chrX_23828353_23912938	23880699	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0083 a0001c0001t0001g0091	2	269	0.0074	12	c.117 others(27): Show c.117+134_117+145dupATTTATTTATTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	2/8			chrX	TogoVar
APPBP2_chr17_60438158_60531242	60475648	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG02572.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0061 a0001c0001t0005g0064	2	144	0.0139	12	c.503 others(29): Show c.503+3488_503+3499dupGTGTGTGTGTGT	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	4/12			chr17	TogoVar
APPBP2_chr17_60438158_60531242	60505676	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0141 a0002c0003t0039g0141	1	144	0.0069	12	c.139 others(29): Show c.139-5201_139-5190dupAAAAAAAAAAAA	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPBP2_chr17_60438158_60531242	60518503	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	144	0.0069	12	c.138 others(29): Show c.138+7279_138+7290dupACACACACACAC	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPBP2_chr17_60438158_60531242	60524610	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0039 a0001c0001t0023g0039	1	144	0.0069	12	c.138 others(29): Show c.138+1172_138+1183dupTTTTTTTTTTTT	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL2_chr12_105168300_105241174	105200831	C C	CGTATGTA others(5): Show CGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18979.hp2 HG01169.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0336 a0001c0001t0001g0294 a0001c0001t0001g0336	2	392	0.0051	12	c.705 others(29): Show c.705-1312_705-1301dupATACATACATAC	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20			chr12	TogoVar
APPL2_chr12_105168300_105241174	105200864	G G	GTATCTAT others(5): Show GTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0239 a0001c0005t0005g0239	1	392	0.0026	12	c.705 others(29): Show c.705-1345_705-1334dupGATAGATAGATA	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20			chr12	TogoVar
APPL2_chr12_105168300_105241174	105200864	G G	GTATGTAT others(5): Show GTATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02647.hp1 HG02071.hp2 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0006 a0001c0005t0005 a0001c0004t0006 a0001c0005t0005	a0001c0004t0006g0106 a0001c0005t0005g0135 a0001c0004t0006g0106 a0001c0005t0005g0135	2	392	0.0051	12	c.705 others(29): Show c.705-1334_705-1333insGATAGATACATA	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20			chr12	TogoVar
APPL2_chr12_105168300_105241174	105203010	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	392	0.0026	12	c.704 others(27): Show c.704+681_704+692dupGTGTGTGTGTGT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20			chr12	TogoVar
AQP11_chr11_77584953_77615356	77587701	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02647.hp1 others(1): Show HG02109.hp2 HG02572.hp1 HG02647.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0219 a0001c0001t0001g0224	4	432	0.0093	12	c.-22 others(23): Show c.-2292_-2291insAAAAAAAAAAAA	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding		2251		chr11	TogoVar
AQP11_chr11_77584953_77615356	77588441	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	432	0.0023	12	c.-15 others(23): Show c.-1552_-1551insTTGTTGTTGTTG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding		1511		chr11	TogoVar
AQP11_chr11_77584953_77615356	77589772	C C	CCGCGCCT others(5): Show CCGCGCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	432	0.0023	12	c.-22 others(21): Show c.-221_-220insCGCGCCTCCCCG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding		180		chr11	TogoVar
AQP11_chr11_77584953_77615356	77596456	A A	AAAAATAT others(5): Show AAAAATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	432	0.0023	12	c.619 others(29): Show c.619+5845_619+5846insAAAATATATATG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQP11_chr11_77584953_77615356	77596456	A A	AAATATAT others(5): Show AAATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	432	0.0023	12	c.619 others(29): Show c.619+5845_619+5846insAATATATATATG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQP11_chr11_77584953_77615356	77596459	T T	TATATATA others(5): Show TATATATATGTAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	432	0.0046	12	c.619 others(29): Show c.619+5856_619+5857insGTAAATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG02273.hp2 others(1): Show HG00639.hp2 HG01074.hp1 HG02273.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0210 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0210	4	432	0.0093	12	c.619 others(29): Show c.619+5941_619+5952dupATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP12B_chr2_240671418_240687885	240680497	C C	CCCCAGCC others(5): Show CCCCAGCCCTGGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	179	0.0056	12	c.608 others(25): Show c.608-30_608-29insACCAGGGCTGGG	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/2			chr2	TogoVar
AQP4_chr18_26847043_26870707	26847501	A A	AACACACA others(5): Show AACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18949.hp2 HG02615.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0005g0073 a0001c0001t0001g0009 a0001c0001t0005g0073	2	438	0.0046	12	c.87 others(23): Show c.8709_*8710insGTGTGTGTGTGT	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding		4541		chr18	TogoVar
AQP7_chr9_33378191_33407568	33378848	G G	GTTGTTTT others(5): Show GTTGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0353 a0001c0001t0009g0353	1	438	0.0023	12	c.61 others(23): Show c.6156_*6157insAAAAAAAAACAA	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding		4342		chr9	TogoVar
AQP7_chr9_33378191_33407568	33378848	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03225.hp1 HG03225.hp2 HG01255.hp1 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0017 a0001c0001t0024g0297 a0001c0001t0001g0017 a0001c0001t0024g0297	3	438	0.0069	12	c.61 others(23): Show c.6156_*6157insAAAAAAAAAAAA	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding		4342		chr9	TogoVar
AQP8_chr16_25211947_25233932	25214446	T T	TATCCATC others(5): Show TATCCATCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG06807.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	420	0.0048	12	c.-26 others(23): Show c.-2600_-2599insATCCATCCATCC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		2500		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216076	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02148.hp1 others(9): Show HG02015.hp2 HG02040.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 NA18942.hp2 NA18955.hp1 NA18978.hp1 NA18990.hp1 NA19054.hp1 NA19075.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0153 a0001c0001t0001g0187 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0153 a0001c0001t0001g0187 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0019 a0002c0002t0002g0106 a0002c0002t0002g0141 a0002c0002t0002g0177 a0002c0002t0003g0042	12	420	0.0286	12	c.-97 others(21): Show c.-970_-969insTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		870		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTCTTT others(5): Show TTCTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA19009.hp1 HG02129.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0064 a0002c0002t0004g0130 a0001c0001t0001g0064 a0002c0002t0004g0130	2	420	0.0048	12	c.-83 others(21): Show c.-831_-830insTCTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTCT others(5): Show TTCTTTCTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0133 a0002c0002t0003g0133	1	420	0.0024	12	c.-83 others(21): Show c.-831_-830insTCTTTCTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTCT others(5): Show TTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	420	0.0024	12	c.-83 others(21): Show c.-831_-830insTCTTTCTTTCTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTCT others(5): Show TTCTTTCTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18966.hp2 HG02040.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0016 a0001c0001t0001g0001 a0002c0002t0002g0016	2	420	0.0048	12	c.-83 others(21): Show c.-831_-830insTCTTTCTTTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTTT others(5): Show TTCTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	420	0.0024	12	c.-83 others(21): Show c.-831_-830insTCTTTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	12	c.-83 others(21): Show c.-831_-830insTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQR_chr15_34846782_34974742	34893607	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0200 a0001c0001t0014g0200	1	312	0.0032	12	c.257 others(27): Show c.2571+44_2571+55dupTGTGTGTGTGTG	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	23/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895159	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0263 a0001c0001t0016g0263	1	312	0.0032	12	c.246 others(31): Show c.2461-1398_2461-1387dupTTTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895185	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0034 a0002c0013t0034	a0002c0013t0034g0181 a0002c0013t0034g0181	1	312	0.0032	12	c.246 others(31): Show c.2461-1413_2461-1412insATATATATATAT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0269 a0001c0001t0016g0269	1	312	0.0032	12	c.246 others(31): Show c.2461-1415_2461-1414insATATTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar

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