Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AMPH_chr7_38378704_38636373	38451294	C C	CACATATA others(37): Show CACATATATACGTGTGTATATACACATATATACACATGTATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 HG02896.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0087 a0001c0001t0001g0098	2	288	0.0069	44	c.101 others(63): Show c.1017+9945_1017+9988dupATATATACATGTGTATATATGTGTAT ATACACACGTATATATGT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0322 a0001c0005t0006g0322	1	370	0.0027	44	c.44 others(55): Show c.4477_*4478insGTGTGTGTGTGTATATATATATATATATATATAT ATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0320 a0001c0005t0006g0320	1	370	0.0027	44	c.44 others(55): Show c.4477_*4478insGTGTGTGTGTATATATATATATATATATATATAT ATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA19055.hp1 HG01884.hp1 NA19055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0314 a0001c0005t0006g0326 a0001c0005t0006g0314 a0001c0005t0006g0326	2	370	0.0054	44	c.44 others(55): Show c.4477_*4478insGTGTGTGTATATATATATATATATATATATATAT ATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0334 a0001c0005t0006g0334	1	370	0.0027	44	c.44 others(55): Show c.4477_*4478insGTGTGTATATATATATATATATATATATATATAT ATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121357398	A A	AAGAAAGA others(37): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	278	0.0036	44	c.-50 others(55): Show c.-5059_-5058insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4988		chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	392	0.0026	44	c.148 others(61): Show c.1483+514_1483+515insATATATATATATATATATATATATATAT ATATATATATATATAT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107370329	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0160 a0001c0001t0014g0160	1	292	0.0034	44	c.298 others(63): Show c.298-23233_298-23232insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889442	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02630.hp2 others(2): Show HG02109.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0036 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0105 a0001c0001t0002g0164	5	422	0.0119	44	c.18 others(55): Show c.1836_*1837insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1231		chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101889442	A A	AAGAGAAA others(37): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	2	422	0.0047	44	c.18 others(55): Show c.1836_*1837insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTCT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1231		chr11	TogoVar
ANKDD1B_chr5_75606453_75676846	75651559	T T	TGTCTGCC others(37): Show TGTCTGCCTAGCACAGGGGAGACTGGCAGTAAACAGGGCTGCAGG	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	44	c.799 others(61): Show c.799-1582_799-1539dupGTCTGCCTAGCACAGGGGAGACTGGCAG TAAACAGGGCTGCAGG	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKFN1_chr17_56148475_56522016	56220868	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02523.hp1 others(5): Show HG01496.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp1 HG03017.hp2 HG03239.hp1 HG03831.hp2 NA18981.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0007t0011 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0007t0011 a0001c0009t0001 a0002c0002t0001 a0003c0006t0009 a0003c0006t0018	a0001c0001t0001g0015 a0001c0007t0011g0007 a0001c0009t0001g0017 others(5): Show a0001c0001t0001g0015 a0001c0007t0011g0007 a0001c0009t0001g0017 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0028 a0003c0006t0009g0014 a0003c0006t0018g0020	8	112	0.0714	44	c.13- others(59): Show c.13-7007_13-7006insGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGGAAGGGAG	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56283524	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03225.hp2 others(2): Show HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0007 a0002c0002 a0003c0006 others(2): Show a0001c0007 a0002c0002 a0003c0006 a0005c0029 a0006c0014	a0001c0007t0007 a0002c0002t0013 a0003c0006t0009 others(2): Show a0001c0007t0007 a0002c0002t0013 a0003c0006t0009 a0005c0029t0021 a0006c0014t0006	a0001c0007t0007g0061 a0002c0002t0013g0031 a0003c0006t0009g0059 others(2): Show a0001c0007t0007g0061 a0002c0002t0013g0031 a0003c0006t0009g0059 a0005c0029t0021g0066 a0006c0014t0006g0064	5	112	0.0446	44	c.54- others(61): Show c.54-42683_54-42682insATATATATATATATATATATATATATAT ATATATATATATATAT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	314	0.0032	44	c.486 others(61): Show c.486+2287_486+2288insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0274 a0001c0003t0002g0274	1	314	0.0032	44	c.486 others(61): Show c.486+2287_486+2288insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01975.hp1 HG00741.hp2 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0239 a0001c0003t0002g0292 a0001c0003t0002g0239 a0001c0003t0002g0292	2	314	0.0064	44	c.486 others(61): Show c.486+2287_486+2288insAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0242 a0001c0003t0002g0242	1	314	0.0032	44	c.486 others(61): Show c.486+2287_486+2288insAAAAAAAAAATATATATATATATATATA TATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132759067	A A	AGGATCGC others(37): Show AGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	350	0.0029	44	c.181 others(61): Show c.181+2507_181+2550dupACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759121	A A	AGAGTGGC others(37): Show AGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02922.hp2 HG02257.hp2 HG02280.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090	3	350	0.0086	44	c.181 others(61): Show c.181+2496_181+2497insCGCAGCGATCCACTCTGCCACGTGGGTG CCCCGGGGTGCCACTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759204	A A	ACGCAGAG others(37): Show ACGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	350	0.0029	44	c.181 others(61): Show c.181+2413_181+2414insGCGATCCTCTCTGCCACGTGGGTGCCCC GGGGTGCCACTCTGCG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759208	A A	AGAGTGGC others(37): Show AGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	350	0.0029	44	c.181 others(61): Show c.181+2366_181+2409dupCGCAGCGATCCTCTCTGCCACGTGGGTG CCCCGGGGTGCCACTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKMY1_chr2_240474422_240562988	240497085	G G	GATAAGAA others(37): Show GATAAGAATGGAGCCGCCACCTCCTCGCCATCTTGGAAGCTGAGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	320	0.0031	44	c.280 others(63): Show c.2806+2829_2806+2872dupGCTCAGCTTCCAAGATGGCGAGGAGG TGGCGGCTCCATTCTTAT	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	15/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240510241	T T	TACATCCT others(37): Show TACATCCTTGCCCTTCCTGCCTCCCTGCCTCCTGCCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01109.hp2 others(14): Show HG00733.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp1 HG02886.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG04199.hp2 NA18747.hp1 NA18982.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0006 a0001c0039 a0003c0010 others(2): Show a0001c0006 a0001c0039 a0003c0010 a0004c0016 a0007c0023	a0001c0006t0001 a0001c0006t0002 a0001c0039t0001 others(3): Show a0001c0006t0001 a0001c0006t0002 a0001c0039t0001 a0003c0010t0001 a0004c0016t0001 a0007c0023t0001	a0001c0006t0001g0012 a0001c0006t0001g0116 a0001c0006t0001g0150 others(13): Show a0001c0006t0001g0012 a0001c0006t0001g0116 a0001c0006t0001g0150 a0001c0006t0001g0192 a0001c0006t0001g0213 a0001c0006t0001g0233 a0001c0006t0001g0235 a0001c0006t0001g0274 a0001c0006t0002g0299 a0001c0039t0001g0104 a0003c0010t0001g0255 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0004c0016t0001g0073 a0007c0023t0001g0054	17	320	0.0531	44	c.228 others(61): Show c.2287-830_2287-787dupGGGGAGGAGGGCAGGAGGCAGGGAGGCA GGAAGGGCAAGGATGT	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	11/17			chr2	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0172 a0002c0002t0008g0172	1	310	0.0032	44	c.-60 others(61): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD13D_chr11_67284303_67307484	67301261	G G	GTCCGACC others(37): Show GTCCGACCCTTTTCTGTGCCGAGCACAGGTCGCTCTCGCTGATGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0136 a0005c0016t0001g0136	1	334	0.0030	44	c.123 others(59): Show c.1232-21_1232-20insTCCGACCCTTTTCTGTGCCGAGCACAGGTC GCTCTCGCTGATGT	ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/14			chr11	TogoVar
ANKRD44_chr2_196981662_197315780	197305965	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	114	0.0088	44	c.27+ others(59): Show c.27+4612_27+4613insTATATATATATATATATATATATATATATA TATATATATATATA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197305967	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0054 a0001c0001t0018g0054	1	114	0.0088	44	c.27+ others(59): Show c.27+4610_27+4611insTATATATATATATATATATATATATATATA TATATATATATATA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD55_chr5_56094680_56238330	56166153	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	308	0.0033	44	c.422 others(61): Show c.422+4540_422+4541insGAAGGAAGGAAGGAAAGAAGAAAGAAAG AAAGAAAGAAAGAAAG	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(37): Show CACACACACACACACACACACTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0251 a0003c0008t0003g0251	1	270	0.0037	44	c.417 others(61): Show c.417+2263_417+2264insACACACACACACACACACACTATATATA TATATATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(37): Show CACACACACACACACACACTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02109.hp2 HG02895.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0167 a0003c0013t0001g0168 a0003c0013t0001g0167 a0003c0013t0001g0168	2	270	0.0074	44	c.417 others(61): Show c.417+2263_417+2264insACACACACACACACACACTATATATATA TATATATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKS1B_chr12_98738974_99989936	98800675	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0003 a0001c0004t0012g0003	1	48	0.0208	44	c.327 others(61): Show c.3270+321_3270+322insATATATATATATATATATATATATATAT ATATATATATATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	21/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139381	C C	CCCCCTTC others(37): Show CCCCCTTCCCTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0031 a0001c0003t0008g0031	1	48	0.0208	44	c.252 others(65): Show c.2526+14907_2526+14908insAAAGAAAGAAAGAAAAGAAAGAAA GAAAGAAAGAAGGGAAGGGG	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA20752.hp2 NA19003.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	302	0.0066	44	c.441 others(61): Show c.441+7198_441+7199insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03239.hp2 NA18944.hp1 HG00099.hp1 HG03239.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0096	3	302	0.0099	44	c.441 others(61): Show c.441+7202_441+7203insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01943.hp1 HG03669.hp1 others(2): Show HG01081.hp2 HG01943.hp1 HG03669.hp1 NA18990.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0002t0001g0150	5	302	0.0166	44	c.441 others(61): Show c.441+7206_441+7207insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095299	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	302	0.0033	44	c.441 others(61): Show c.441+7218_441+7219insGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26529107	T T	TTATATAA others(37): Show TTATATAATATATTATATATTATATATAATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0128 a0001c0007t0003g0128	1	190	0.0053	44	c.738 others(61): Show c.738-2095_738-2094insATAATATATTATATATTATATATAATAT ATTATATAATATATAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101082784	C C	CCAGTACC others(37): Show CCAGTACCTTCATCCGAATCTTGACCATTTCTGCCTGGATTAACT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	236	0.0042	44	c.139 others(61): Show c.1396-891_1396-848dupGTACCTTCATCCGAATCTTGACCATTTC TGCCTGGATTAACTCA	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02135.hp1 NA20752.hp2 HG01106.hp2 HG02135.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0016g0228 a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0016g0228	3	234	0.0128	44	c.151 others(63): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(37): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	234	0.0043	44	c.151 others(63): Show c.151-14181_151-14180insGTGTGTGTATATATATATATATATAT ATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	234	0.0043	44	c.151 others(63): Show c.151-14181_151-14180insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO9_chr11_412938_447011	431498	C C	CCCGTGGG others(37): Show CCCGTGGGTATCTGGGGGGGCATCTTGCGGGGGGTGTGGGGGCGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	286	0.0035	44	c.539 others(59): Show c.539+195_539+196insACGCCCCCACACCCCCCGCAAGATGCCCCC CCAGATACCCACGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(37): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp1 HG02257.hp1 others(2): Show HG02074.hp2 HG02145.hp1 HG02257.hp1 NA19062.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0073 a0001c0002t0001g0085 a0001c0002t0001g0087 others(2): Show a0001c0002t0001g0073 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0287 a0002c0001t0001g0192	5	370	0.0135	44	c.737 others(59): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(37): Show GGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0307 a0001c0003t0015g0307	1	370	0.0027	44	c.737 others(59): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221612	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02886.hp2 others(5): Show HG02451.hp1 HG02572.hp2 HG02886.hp2 HG03041.hp1 HG03471.hp1 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0004c0007t0001	a0001c0003t0001g0194 a0001c0003t0001g0202 a0001c0003t0001g0206 others(5): Show a0001c0003t0001g0194 a0001c0003t0001g0202 a0001c0003t0001g0206 a0001c0003t0004g0032 a0001c0003t0006g0318 a0001c0003t0006g0319 a0001c0003t0006g0321 a0004c0007t0001g0210	8	370	0.0216	44	c.737 others(59): Show c.737-852_737-851insCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATGTATGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	284	0.0035	44	c.18+ others(59): Show c.18+4211_18+4212insATATATATATATATATATATGTATGTATAT ATATATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATATGT others(37): Show ATATATGTATATATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG01928.hp1 HG01361.hp1 HG01515.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257	3	284	0.0106	44	c.18+ others(59): Show c.18+4211_18+4212insATGTATATATATATATATATGTATATATAT ATATATATATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168156353	A A	AATATATT others(37): Show AATATATTATATAGTATATATAATATAATTAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01081.hp1 others(5): Show HG00099.hp2 HG00735.hp2 HG01081.hp1 HG01175.hp2 HG01346.hp2 HG03490.hp1 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0036	8	284	0.0282	44	c.196 others(61): Show c.196-6154_196-6111dupAATATAATTAATATATATTATATTATAT ATTATATAGTATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(37): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02698.hp2 HG03516.hp2 HG02027.hp1 HG02698.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0205 a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0205	3	334	0.0090	44	c.-10 others(55): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	408	0.0025	44	c.19- others(57): Show c.19-352_19-351insAATATATATATATATATATATATATATATATA TATATATATATA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar

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