Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
ADRA1D_chr20_4215630_4254287	4227656	TTCCTTCC others(41): Show TTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCTCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG02698.hp2 others(2): Show HG00741.hp1 HG01169.hp1 HG02698.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001	a0001c0001t0004g0033 a0001c0001t0004g0362 a0001c0001t0005g0355 others(1): Show a0001c0001t0004g0033 a0001c0001t0004g0362 a0001c0001t0005g0355 a0001c0003t0001g0066	5	452	0.0111	-48	c.111 others(67): Show c.1112-5574_1112-5527delGGGAGGGAGGGAGGGAGAGAGGGAAG GAAGGAAGGAAGGAGGGAAGGA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
AGAP1_chr2_235489043_236136793	235992170	AGTTGCGT others(41): Show AGTTGCGTGGTTAGGAGCGCAGCGGAGGAGCCGGTCTTCCTGGGTCCAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0037 a0001c0009t0017g0037	1	98	0.0102	-48	c.164 others(69): Show c.1645+23592_1645+23639delCCATGTTGCGTGGTTAGGAGCGCA GCGGAGGAGCCGGTCTTCCTGGGT		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86827321	ACACATAT others(41): Show ACACATATATATATATATGTGTATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp2 HG03239.hp2 HG01070.hp2 HG01496.hp2 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0003c0022 a0001c0002 a0003c0011 a0003c0022	a0001c0002t0002 a0003c0011t0001 a0003c0022t0035 a0001c0002t0002 a0003c0011t0001 a0003c0022t0035	a0001c0002t0002g0127 a0003c0011t0001g0077 a0003c0022t0035g0087 a0001c0002t0002g0127 a0003c0011t0001g0077 a0003c0022t0035g0087	3	132	0.0227	-48	c.315 others(69): Show c.3159-79765_3159-79718delCACATATATATATATATGTGTATA TATATATATATATATATGTGTGTG		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22						chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827441	ATGTGTGT others(41): Show ATGTGTGTGTATATATATATATATATATACATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0050 a0002c0005t0050	a0002c0005t0050g0036 a0002c0005t0050g0036	1	132	0.0076	-48	c.315 others(69): Show c.3159-79644_3159-79597delGTGTGTGTATATATATATATATAT ATACATATATATATATATGTGTGT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGGF1_chr5_77025404_77070234	77042787	ACGGGGCG others(41): Show ACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0220 a0001c0004t0007g0220	1	438	0.0023	-48	c.870 others(65): Show c.870+3092_870+3139delCTGACCCCCCCACCTCCCTCCCGGGCGG GGCGGCTGGCCGGGCGGGGG		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15198226	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03453.hp2 HG02572.hp2 HG03453.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0014 a0001c0001 a0014c0014	a0001c0001t0001 a0014c0014t0001 a0001c0001t0001 a0014c0014t0001	a0001c0001t0001g0203 a0014c0014t0001g0180 a0001c0001t0001g0203 a0014c0014t0001g0180	2	236	0.0085	-48	c.30 others(59): Show c.3011_*3058delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding					2090		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354464	GTGTGTAT others(41): Show GTGTGTATACACACGTGTGTATATACACACGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	236	0.0042	-48	c.126 others(69): Show c.1263+11002_1263+11049delTATATATATATATATACACGTGTG TATATACACACGTGTGTATACACA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGO2_chr8_140515156_140640633	140607458	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0063 a0001c0002t0008g0063	1	338	0.0030	-48	c.23- others(65): Show c.23-22195_23-22148delTATATATATATATATATATATATATATA TATATATATATATATATATA		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AGPAT2_chr9_136668143_136692457	136671139	AGGCAGGC others(41): Show AGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18984.hp2 HG04228.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0115 a0001c0001t0001g0189 a0001c0001t0002g0115	2	374	0.0054	-48	c.25 others(59): Show c.2565_*2612delCCCCCGACGCCTCACCTCCTCCAGCAGGTCCACC CTGGACTGCCTGCC		AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding					2003		chr9	TogoVar
AGR2_chr7_16786811_16809999	16789668	GGCCGGGC others(41): Show GGCCGGGCAGGGGGCTGAGCCCCCCACCTCCCTCCCGGCGGAGCAGCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(327): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 others(168): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0233 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0004g0027 a0001c0001t0004g0042 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0004g0084 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0150 a0001c0001t0004g0191 a0001c0001t0004g0210 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0232 a0001c0001t0004g0240 a0001c0001t0005g0046 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0154 a0001c0001t0005g0218 a0001c0001t0006g0009 a0001c0001t0006g0013 a0001c0001t0006g0087 a0001c0001t0006g0101 a0001c0001t0006g0158 a0001c0001t0008g0023 a0001c0001t0008g0086 a0001c0001t0008g0091 a0001c0001t0008g0202 a0001c0001t0010g0064 a0001c0001t0012g0067 a0001c0001t0013g0167 a0001c0001t0015g0142 a0001c0001t0016g0094 a0001c0001t0019g0243 a0001c0001t0020g0250 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0214 a0001c0002t0001g0219 a0001c0002t0001g0227 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0242 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0002g0164 a0001c0002t0007g0038 a0001c0002t0007g0071 a0001c0002t0007g0095 a0001c0002t0007g0103 a0001c0002t0007g0186 a0001c0002t0007g0231 a0001c0002t0011g0059	330	460	0.7174	-48	c.31 others(59): Show c.3192_*3239delTAGCTGCTCCGCCGGGAGGGAGGTGGGGGGCTCA GCCCCCTGCCCGGC		AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding					2142		chr7	TogoVar
AGRN_chr1_1015120_1061116	1041712	TCCCCCGG others(41): Show TCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0138 a0012c0021t0001g0138	1	210	0.0048	-48	c.117 others(63): Show c.1177+15_1177+62delCGGGGGAGGGCTCCGGCCAGTGCCAGGGTC GAGGTGGGCGGCTCCCCC		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	6/35					INFO_REALIGN_3_PRIME	chr1	TogoVar
AHI1_chr6_135278532_135502740	135340637	GTACATAT others(41): Show GTACATATATATACATACATACATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG01891.hp1 HG02280.hp2 HG02976.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0016 a0004c0007 a0001c0003 a0001c0016 a0004c0007	a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 others(2): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 a0001c0016t0002 a0004c0007t0011	a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(5): Show a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0017 a0001c0003t0013g0046 a0001c0016t0002g0180 a0004c0007t0011g0072 a0004c0007t0011g0102	8	220	0.0364	-48	c.316 others(69): Show c.3166-17361_3166-17314delTATATATATATATATATATATATA TATGTATGTATGTATATATATGTA		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28						chr6	TogoVar
AHRR_chr5_316714_443285	391309	GGGCCAGA others(41): Show GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	268	0.0037	-48	c.351 others(67): Show c.351+14596_351+14643delCCAGAGCGTGCACGGGCGCAGGGCGA GGCGGGCGCAGGGCGAGGCAGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP6_chr14_32324298_32842684	32510404	GTATATAT others(41): Show GTATATATATGTATATATATACATATATATATGTGTATATATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02809.hp2 HG02280.hp1 HG02717.hp2 HG02809.hp2	a0001 a0012 a0027 a0001 a0012 a0027	a0001c0004 a0012c0048 a0027c0030 a0001c0004 a0012c0048 a0027c0030	a0001c0004t0007 a0012c0048t0034 a0027c0030t0001 a0001c0004t0007 a0012c0048t0034 a0027c0030t0001	a0001c0004t0007g0020 a0012c0048t0034g0118 a0027c0030t0001g0154 a0001c0004t0007g0020 a0012c0048t0034g0118 a0027c0030t0001g0154	3	154	0.0195	-48	c.325 others(67): Show c.325-25142_325-25095delATGTATATATATACATATATATATGT GTATATATATATACATATATAT		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKR1B15_chr7_134544110_134584869	134562398	TTGATTGG others(41): Show TTGATTGGTCCATTTTACAGAGTGCTGATTGGTCCATTTTACAGAGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	404	0.0025	-48	c.-22 others(65): Show c.-22-2190_-22-2143delCATTTTACAGAGTGCTGATTGGTCCATT TTACAGAGTGCTGATTGGTC		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT1_chr14_104764349_104800748	104788202	CCTAGACG others(41): Show CCTAGACGCAGCCTGGGGTTGACCCTCACCTGACAGCCTGGGAAAAACT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	386	0.0026	-48	c.46+ others(63): Show c.46+4348_46+4395delAGTTTTTCCCAGGCTGTCAGGTGAGGGTCA ACCCCAGGCTGCGTCTAG		AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	3/14						chr14	TogoVar
ALG10B_chr12_38311774_38334721	38330416	ACCCCCCA others(41): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGCTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(93): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0026 a0001c0001t0039 a0001c0001t0060 a0001c0001t0064 a0001c0001t0073 a0001c0001t0074 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0011g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0011g0001 a0001c0001t0026g0001 a0001c0001t0039g0001 a0001c0001t0060g0001 a0001c0001t0064g0001 a0001c0001t0073g0001 a0001c0001t0074g0001 a0001c0003t0001g0001	96	452	0.2124	-48	c.92 others(59): Show c.9204_*9251delCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGCTGAC		ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding					696		chr12	TogoVar
ALG6_chr1_63362627_63443553	63400235	ATATATAT others(41): Show ATATATATACGTATATATATGTATATATATATACGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0100 a0002c0002t0005g0100	1	388	0.0026	-48	c.168 others(65): Show c.168-2010_168-1963delCGTATATATATGTATATATATATACGTA TATATATATACGTATATATA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63400273	ATATATAT others(41): Show ATATATATACGTATATATATATACGTATATATATGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03927.hp2 HG02132.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0321 a0002c0002t0001g0329 a0002c0002t0001g0321 a0002c0002t0001g0329	2	388	0.0052	-48	c.168 others(65): Show c.168-1972_168-1925delCGTATATATATATACGTATATATATGTA TATATATATACGTATATATA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALOXE3_chr17_8090900_8123514	8107946	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	422	0.0024	-48	c.168 others(65): Show c.1684+474_1684+521delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCCTTTCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107950	AAAGAAAG others(41): Show AAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0389 a0001c0002t0003g0389	1	422	0.0024	-48	c.168 others(65): Show c.1684+470_1684+517delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPL_chr1_21504423_21583410	21554788	CCTGTCTG others(41): Show CCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0319 a0002c0002t0001g0319	1	370	0.0027	-48	c.61+ others(61): Show c.61+649_61+696delGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCT TTCTTTCTTTCTTTCT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKFN1_chr17_56148475_56522016	56220808	GAGGAAGG others(41): Show GAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0029 a0001c0004t0002g0029	1	112	0.0089	-48	c.13- others(63): Show c.13-7093_13-7046delAAGGAAGGGAGGAAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGAAGG		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFY1_chr17_4158821_4268979	4207133	CATCTAAC others(41): Show CATCTAACCACAGAGGGCCCGACCCGTCTAACCACAGAGGGCCCGATCT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	300	0.0033	-48	c.733 others(63): Show c.733-695_733-648delAGATCGGGCCCTCTGTGGTTAGACGGGTCG GGCCCTCTGTGGTTAGAT		ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding	6/24						chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140458949	TATATATA others(41): Show TATATATATATATATATATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp1 HG02280.hp2 others(8): Show HG01071.hp1 HG01346.hp1 HG02280.hp2 HG02970.hp1 HG03098.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03834.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0006t0001 a0003c0005t0001 a0001c0001t0001 a0001c0006t0001 a0003c0005t0001	a0001c0001t0001g0103 a0001c0001t0001g0148 a0001c0001t0001g0152 others(8): Show a0001c0001t0001g0103 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0006t0001g0153 a0001c0006t0001g0154 a0003c0005t0001g0139	11	322	0.0342	-48	c.148 others(65): Show c.1480+118_1481-137delGCATATATATATATATGCATATATATAT ATATATATATATATATATAT		ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89482805	CAGCAGGA others(41): Show CAGCAGGAGTCAGAGAGATGCCATGAGGCTGGCTTTGAAGACTGAGGAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0007 a0022c0039t0007	a0022c0039t0007g0268 a0022c0039t0007g0268	1	310	0.0032	-48	c.-14 others(67): Show c.-145+7392_-145+7439delTTCCTCAGTCTTCAAAGCCAGCCTCA TGGCATCTCTCTGACTCCTGCT		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ANKRD27_chr19_32592006_32680180	32616495	GTGAGCTG others(41): Show GTGAGCTGAGATCATGCCACTGCACTCCTGGATGACAGCGCAAGACTCC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0142 a0001c0003t0004g0142	1	348	0.0029	-48	c.205 others(65): Show c.2053-763_2053-716delGGAGTCTTGCGCTGTCATCCAGGAGTGC AGTGGCATGATCTCAGCTCA		ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	21/28						chr19	TogoVar
ANKRD31_chr5_75063297_75241878	75206230	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18975.hp1 others(1): Show HG03490.hp2 HG03492.hp1 NA18975.hp1 NA19065.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0007c0007t0001 a0002c0002t0001 a0007c0007t0001	a0002c0002t0001g0022 a0002c0002t0001g0024 a0007c0007t0001g0146 others(1): Show a0002c0002t0001g0022 a0002c0002t0001g0024 a0007c0007t0001g0146 a0007c0007t0001g0156	4	334	0.0120	-48	c.403 others(63): Show c.403+133_403+180delATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206232	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18747.hp1 NA18942.hp2 others(9): Show HG02074.hp2 NA18747.hp1 NA18942.hp2 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18984.hp1 NA19002.hp1 NA19043.hp1 NA19058.hp1 NA19074.hp2 NA20129.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0011 a0002c0002 a0011c0011	a0002c0002t0001 a0011c0011t0001 a0002c0002t0001 a0011c0011t0001	a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0027 others(9): Show a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0051 a0011c0011t0001g0029	12	334	0.0359	-48	c.403 others(63): Show c.403+131_403+178delATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206234	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02738.hp1 HG03139.hp2 others(2): Show HG02647.hp1 HG02738.hp1 HG03139.hp2 HG03516.hp2 NA19030.hp2	a0002 a0006 a0015 a0002 a0006 a0015	a0002c0002 a0006c0006 a0015c0033 a0002c0002 a0006c0006 a0015c0033	a0002c0002t0001 a0006c0006t0001 a0015c0033t0001 a0002c0002t0001 a0006c0006t0001 a0015c0033t0001	a0002c0002t0001g0069 a0006c0006t0001g0165 a0006c0006t0001g0167 others(2): Show a0002c0002t0001g0069 a0006c0006t0001g0165 a0006c0006t0001g0167 a0006c0006t0001g0315 a0015c0033t0001g0168	5	334	0.0150	-48	c.403 others(63): Show c.403+129_403+176delATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206236	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp1 HG02572.hp2 HG03471.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0004 a0006c0006t0003 a0006c0006t0004	a0006c0006t0003g0013 a0006c0006t0004g0007 a0006c0006t0003g0013 a0006c0006t0004g0007	2	334	0.0060	-48	c.403 others(63): Show c.403+127_403+174delATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKS1A_chr6_34884255_35096406	34991723	CATATATA others(41): Show CATATATACACATATATATACATATATACACACATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp2 others(147): Show HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03209.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0010 a0012 a0013 a0015	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0001c0017 a0001c0030 a0001c0031 a0001c0035 a0004c0016 a0005c0015 a0010c0029 a0012c0028 a0013c0027 a0015c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0007 a0001c0012t0004 a0001c0013t0001 a0001c0013t0002 a0001c0017t0003 a0001c0030t0013 a0001c0031t0001 a0001c0035t0001 a0004c0016t0002 a0005c0015t0008 a0010c0029t0007 a0012c0028t0026 a0013c0027t0022 a0015c0026t0004	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 others(147): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0003g0097 a0001c0001t0003g0152 a0001c0001t0003g0179 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0005g0113 a0001c0001t0005g0115 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0157 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0183 a0001c0001t0005g0241 a0001c0001t0006g0094 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0125 a0001c0001t0006g0187 a0001c0001t0011g0242 a0001c0001t0016g0252 a0001c0001t0024g0145 a0001c0001t0029g0186 a0001c0001t0030g0188 a0001c0004t0004g0199 a0001c0004t0004g0211 a0001c0004t0004g0213 a0001c0004t0004g0215 a0001c0004t0004g0219 a0001c0004t0004g0222 a0001c0004t0004g0223 a0001c0004t0004g0224 a0001c0004t0004g0226 a0001c0004t0004g0227 a0001c0004t0004g0228 a0001c0004t0004g0229 a0001c0004t0004g0238 a0001c0004t0004g0240 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0251 a0001c0005t0001g0202 a0001c0005t0001g0220 a0001c0005t0002g0185 a0001c0005t0004g0214 a0001c0005t0004g0218 a0001c0005t0004g0247 a0001c0005t0007g0089 a0001c0005t0007g0092 a0001c0005t0007g0171 a0001c0005t0007g0196 a0001c0005t0007g0198 a0001c0005t0007g0230 a0001c0005t0007g0231 a0001c0005t0007g0232 a0001c0005t0007g0233 a0001c0005t0007g0234 a0001c0005t0007g0248 a0001c0005t0007g0249 a0001c0012t0004g0216 a0001c0012t0004g0217 a0001c0012t0004g0239 a0001c0013t0001g0164 a0001c0013t0002g0150 a0001c0017t0003g0221 a0001c0030t0013g0093 a0001c0031t0001g0096 a0001c0035t0001g0206 a0004c0016t0002g0200 a0004c0016t0002g0201 a0005c0015t0008g0212 a0005c0015t0008g0250 a0010c0029t0007g0098 a0012c0028t0026g0129 a0013c0027t0022g0095 a0015c0026t0004g0203	150	320	0.4688	-48	c.130 others(67): Show c.1302+2419_1302+2466delTATATATACATATATACACACATATA TATATACACATATATATACACA		ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	9/23					INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO3_chr11_26327130_26668289	26564720	CACACACA others(41): Show CACACACACACACATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG01952.hp2 HG00733.hp1 HG01361.hp1 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0029 a0001c0005t0005g0032 a0001c0005t0005g0039 a0001c0005t0005g0029 a0001c0005t0005g0032 a0001c0005t0005g0039	3	190	0.0158	-48	c.144 others(67): Show c.1447+4943_1447+4990delCACACACACACATATATATATATATA TATATATATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101054810	AAAAGTTT others(41): Show AAAAGTTTCCTCATGCCTCTGCAGTCAGTCCCTTGGCAACCTGAAACCT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG02965.hp2 others(1): Show HG02280.hp2 HG02922.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0062 a0001c0001t0005g0075 a0001c0001t0005g0231 others(1): Show a0001c0001t0005g0062 a0001c0001t0005g0075 a0001c0001t0005g0231 a0001c0003t0005g0230	4	236	0.0170	-48	c.131 others(67): Show c.1312+6410_1312+6457delAAAGTTTCCTCATGCCTCTGCAGTCA GTCCCTTGGCAACCTGAAACCT		ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	14/27						chr12	TogoVar
ANTXR1_chr2_69008179_69254327	69096274	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	206	0.0049	-48	c.703 others(65): Show c.703+5363_703+5410delAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGG		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69096282	AAGGAAGG others(41): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01952.hp2 HG01981.hp1 others(10): Show HG00408.hp1 HG01952.hp2 HG01981.hp1 HG02165.hp1 HG02280.hp2 HG02965.hp1 HG03710.hp1 NA18946.hp1 NA18954.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0003t0016 a0002c0002t0001 a0004c0008t0022	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0144 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0002g0053 a0001c0001t0002g0086 a0001c0001t0003g0007 a0001c0001t0004g0125 a0001c0001t0012g0189 a0001c0003t0016g0132 a0002c0002t0001g0082 a0004c0008t0022g0128	13	206	0.0631	-48	c.703 others(65): Show c.703+5411_703+5458delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGG		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3B1_chr5_77997326_78299698	78097078	GCCCGGCC others(41): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGTCAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01346.hp1 HG01934.hp1 others(4): Show HG01258.hp1 HG01346.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0002 a0001c0001t0003 a0005c0015t0001 a0001c0001t0002 a0001c0001t0003 a0005c0015t0001	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 others(4): Show a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0003g0121 a0005c0015t0001g0105	7	226	0.0310	-48	c.247 others(67): Show c.2470+3827_2470+3874delTGGGGGGCTGACCCCCTACCTCCCTC CCGGACGGGGCGGCTGGCCGGG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	21/26						chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844229	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG03516.hp2 others(1): Show HG02257.hp2 HG02630.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0294 a0001c0001t0012g0295 a0001c0001t0012g0296 others(1): Show a0001c0001t0001g0294 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311	4	312	0.0128	-48	c.346 others(65): Show c.346-6555_346-6508delGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
APBA1_chr9_69422532_69677371	69604682	ATGGGCAC others(41): Show ATGGGCACACATGCACGCACATGAGGGTAAGTGGAGAGGCACACGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp2 HG02055.hp2 others(22): Show HG01255.hp1 HG01361.hp2 HG02055.hp2 HG02258.hp2 HG02300.hp2 HG02559.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0002c0002t0007	a0001c0001t0003g0093 a0001c0001t0004g0019 a0001c0001t0004g0026 others(22): Show a0001c0001t0003g0093 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0006g0094 a0001c0001t0007g0042 a0001c0001t0007g0047 a0001c0001t0007g0108 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0024g0029 a0002c0002t0007g0035 a0002c0002t0007g0048 a0002c0002t0007g0049	25	210	0.1191	-48	c.-70 others(67): Show c.-70+67423_-70+67470delCACTCGTGTGCCTCTCCACTTACCCT CATGTGCGTGCATGTGTGCCCA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBB2_chr4_40805027_41219542	40982283	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0006 a0002c0005t0041 a0001c0004t0006 a0002c0005t0041	a0001c0004t0006g0160 a0002c0005t0041g0124 a0001c0004t0006g0160 a0002c0005t0041g0124	2	192	0.0104	-48	c.835 others(67): Show c.835+31252_835+31299delCTTTCTTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APLP2_chr11_130064894_130149805	130091275	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG01952.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0260 a0001c0001t0002g0262	2	274	0.0073	-48	c.106 others(67): Show c.106-18149_106-18102delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACACCCC		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP8_chr16_25211947_25233932	25216173	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	420	0.0024	-48	c.-87 others(57): Show c.-872_-825delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTCTT		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding					773		chr16	TogoVar
ARFGAP1_chr20_63267813_63294790	63278423	GGGGGTCT others(41): Show GGGGGTCTTAGATGTATTGCAGTGACCCCCAGCTGCCCAGGTGTGAATT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	342	0.0029	-48	c.530 others(63): Show c.530+225_530+272delTCTTAGATGTATTGCAGTGACCCCCAGCTG CCCAGGTGTGAATTGGGG		ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147798749	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	106	0.0094	-48	c.155 others(67): Show c.155-23976_155-23929delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATATAT		ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP19_chr10_97217179_97297637	97218915	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02615.hp1 others(3): Show HG00639.hp1 HG01884.hp1 HG02615.hp1 HG02717.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0238 others(3): Show a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241	6	242	0.0248	-48	c.71 others(59): Show c.7159_*7206delTATATATATATATATATATATACACACACACACA CACACACACACACA		ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding					3263		chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97218917	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0237 a0001c0001t0005g0237	1	242	0.0041	-48	c.71 others(59): Show c.7157_*7204delTATATATATATATATATATATATACACACACACA CACACACACACACA		ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding					3261		chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656890	GGGGGGGT others(41): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	352	0.0028	-48	c.268 others(67): Show c.268+10047_268+10094delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCC		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP30_chr1_161041946_161074891	161051967	TCACCACC others(41): Show TCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03942.hp1 HG02572.hp2 HG03942.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0010c0010t0001 a0001c0001t0001 a0010c0010t0001	a0001c0001t0001g0189 a0010c0010t0001g0156 a0001c0001t0001g0189 a0010c0010t0001g0156	2	390	0.0051	-48	c.101 others(65): Show c.1018+271_1019-253delGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTG		ARHGAP30	ENSG00000186517.14	transcript	ENST00000368013.8	protein_coding	9/11						chr1	TogoVar
ARHGAP33_chr19_35770564_35793822	35786630	TGGTGATG others(41): Show TGGTGATGAGCTGGACTTCAGCCCACCCCGCTGCCTGGAGGGACTCCGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00408.hp1	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0001 a0016c0033t0001	a0016c0033t0001g0012 a0016c0033t0001g0012	1	420	0.0024	-48	c.216 others(57): Show c.2163_2210delTGATGAGCTGGACTTCAGCCCACCCCGCTGCCTGGA GGGACTCCGGGG	p.Asp others(13): Show p.Asp722_Gly737del	ARHGAP33	ENSG00000004777.19	transcript	ENST00000007510.9	protein_coding	20/21	2258/4352	2163/3864	721/1287		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144562021	CACTCCAG others(41): Show CACTCCAGTGGTTTCCATCGGACTTACTCCAGTGGTTTCCATCGGACTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02451.hp2 others(10): Show HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02970.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0018 a0001c0001 a0001c0007 a0001c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0007t0001 a0001c0018t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(10): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0007g0018 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0166 a0001c0007t0001g0017 a0001c0018t0001g0230	13	246	0.0529	-48	c.513 others(65): Show c.513-6426_513-6379delAAGTCCGATGGAAACCACTGGAGTAAGT CCGATGGAAACCACTGGAGT		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11						chr8	TogoVar

Search by Variant

Search

Search Results (Total: 2076 hits)