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
FTCD_chr21_46131779_46160579	46134654	A A	AGGTTTAG others(30): Show AGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0191 a0001c0035t0002g0191	1	230	0.0044	37	c.23 others(48): Show c.2332_*2333insCTCACCCTCACCCTGACCCTGACCCTGACCCTAA ACC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2124		chr21	TogoVar
FUT10_chr8_33365824_33478146	33380217	A A	ATATATAT others(30): Show ATATATATACACTATATATATATACTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	268	0.0037	37	c.121 others(56): Show c.1213-7414_1213-7413insGTATATATATATAGTATATATATATA GTGTATATATA	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4			chr8	TogoVar
FUT1_chr19_48743011_48757641	48755187	A A	ACCCTCCT others(30): Show ACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	438	0.0023	37	c.-27 others(48): Show c.-2737_-2701dupGTGGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA GGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		2547		chr19	TogoVar
FUT1_chr19_48743011_48757641	48757578	T T	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	438	0.0023	37	c.-51 others(48): Show c.-5128_-5092dupGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		4938		chr19	TogoVar
FUT8_chr14_65407730_65749121	65716840	T T	TTCCCAGA others(30): Show TTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18974.hp2 NA18998.hp1 others(1): Show HG03654.hp1 NA18974.hp2 NA18998.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 others(1): Show a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0208	4	374	0.0107	37	c.836 others(54): Show c.836-4902_836-4866dupTCACCTCCCAGACGGGGCGGCCGGGCAG AGGCGCTCC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65716840	T T	TTCCCAGA others(30): Show TTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19082.hp1 NA19057.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0204 a0001c0001t0002g0207	2	374	0.0054	37	c.836 others(54): Show c.836-4928_836-4927insTGGGGCGGCCGGGCAGAGGCGCTCCTCA CCTCCCAGA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65716848	C C	TGGGGCGG others(30): Show TGGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	374	0.0027	37	c.836 others(54): Show c.836-4928_836-4927insTGGGGCGGCCGGGCAGAGGCGCTCCTCA CCTCCCAGA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10			chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAGAAG others(30): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0355 a0001c0001t0006g0354 a0001c0001t0001g0355 a0001c0001t0006g0354	2	432	0.0046	37	c.165 others(54): Show c.165+1339_165+1340insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FYB1_chr5_39100252_39224563	39143459	T T	TGGTAGTG others(30): Show TGGTAGTGAAGGCCAGGTAGTGAAGGCCATAGATACCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02258.hp2 HG02572.hp1 others(19): Show HG02083.hp2 HG02258.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp1 NA18957.hp2 NA18967.hp2 NA18968.hp1 NA18988.hp2 NA18991.hp2 NA19000.hp1 NA19011.hp2 NA19060.hp2 NA19079.hp2	a0001 a0011 a0012 others(1): Show a0001 a0011 a0012 a0017	a0001c0001 a0011c0012 a0012c0025 others(1): Show a0001c0001 a0011c0012 a0012c0025 a0017c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0011c0012t0003 a0012c0025t0002 a0017c0014t0001	a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0313 others(19): Show a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0313 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0035 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0166 a0001c0001t0006g0083 a0001c0001t0009g0081 a0001c0001t0022g0084 a0011c0012t0003g0019 a0012c0025t0002g0115 a0017c0014t0001g0238	22	326	0.0675	37	c.129 others(56): Show c.1293-2319_1293-2318insTGGTATCTATGGCCTTCACTACCTGG CCTTCACTACC	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYTTD1_chr3_197744883_197792596	197756108	A A	AGAGGCTT others(30): Show AGAGGCTTCTGTGATTATGGGAAGTAAGTAGGAAATTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0028 a0002c0006t0028	a0002c0006t0028g0093 a0002c0006t0028g0093	1	256	0.0039	37	c.104 others(52): Show c.104-284_104-248dupATTGGAGGCTTCTGTGATTATGGGAAGTAA GTAGGAA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
FZD6_chr8_103293898_103337866	103329013	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	366	0.0027	37	c.154 others(54): Show c.1541+597_1541+598insATATATATATATATATATATATATATAT ATATATATA	FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding	5/6			chr8	TogoVar
FZD7_chr2_202028855_202043441	202040052	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	1	420	0.0024	37	c.36 others(48): Show c.3680_*3681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding		1612		chr2	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	194	0.0052	37	c.72+ others(54): Show c.72+36604_72+36605insTATATATATATATATATATATATATATA TATATATAT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB1_chr4_143331876_143479565	143373886	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0040 a0001c0001t0020g0040	1	194	0.0052	37	c.72+ others(54): Show c.72+36626_72+36627insATATATATATATATATATATATATATAT ATATATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	288	0.0035	37	c.376 others(56): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407667	A A	AAGAAAGA others(30): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0128 a0001c0002t0021g0128	1	288	0.0035	37	c.75+ others(52): Show c.75+9978_75+9979insGCCATCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436315	A A	ATATATAT others(30): Show ATATATATATATATCCATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0094 a0001c0001t0008g0094	1	164	0.0061	37	c.123 others(58): Show c.1236+17665_1236+17666insATATATATATATATATATTTATGG ATATATATATATA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	164	0.0061	37	c.123 others(56): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GAD2_chr10_26211774_26309558	26303480	G G	GAGGAAGG others(30): Show GAGGAAGGAAGGAAATGAAGGGAGGGAGGGAGGAAGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG02258.hp1 others(4): Show HG01192.hp1 HG02145.hp1 HG02258.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0064 a0001c0001t0008g0065 others(4): Show a0001c0001t0008g0013 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0001t0008g0272 a0001c0001t0008g0273	7	294	0.0238	37	c.25 others(48): Show c.2528_*2529insGGAAATGAAGGGAGGGAGGGAGGAAGGAAGGAAG GAA	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	16/16	2529	INFO_REALIGN_3_PRIME	chr10	TogoVar
GAK_chr4_844277_937316	922674	A A	AGCCTAAC others(30): Show AGCCTAACCAGGCTGATACGCTCCTACATTGCTGGTGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	390	0.0026	37	c.146 others(54): Show c.146-9043_146-9007dupCCACCAGCAATGTAGGAGCGTATCAGCC TGGTTAGGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926813	T T	TACCTGCG others(30): Show TACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG03453.hp1 HG01496.hp1 HG02886.hp1 HG03453.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0320 a0007c0015t0001g0023 a0007c0015t0001g0263 a0001c0001t0001g0320 a0007c0015t0001g0023 a0007c0015t0001g0263	3	390	0.0077	37	c.145 others(54): Show c.145+5229_145+5230insGAGCGGGGAGGGGTGCGGGGCAGTGCGG AGCGCAGGT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926846	A A	AGCTCACC others(30): Show AGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(111): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0006 a0010 a0011 a0012 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0001c0014 a0001c0019 a0001c0023 a0001c0042 a0001c0046 a0002c0003 a0002c0036 a0004c0009 a0006c0013 a0010c0026 a0011c0041 a0012c0034 a0016c0039 a0017c0040 a0018c0029 a0020c0048 a0023c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0014t0002 a0001c0019t0002 a0001c0023t0001 a0001c0042t0001 a0001c0046t0001 a0002c0003t0001 a0002c0036t0001 a0004c0009t0006 a0006c0013t0001 a0010c0026t0002 a0011c0041t0001 a0012c0034t0001 a0016c0039t0001 a0017c0040t0001 a0018c0029t0008 a0020c0048t0001 a0023c0049t0002	a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060 others(109): Show a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0004g0138 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0313 a0001c0004t0001g0016 a0001c0004t0001g0058 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0110 a0001c0004t0002g0105 a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 a0001c0012t0001g0015 a0001c0014t0002g0199 a0001c0019t0002g0107 a0001c0019t0002g0127 a0001c0023t0001g0077 a0001c0042t0001g0347 a0001c0046t0001g0080 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0334 a0002c0036t0001g0284 a0004c0009t0006g0377 a0006c0013t0001g0270 a0006c0013t0001g0271 a0006c0013t0001g0279 a0010c0026t0002g0136 a0011c0041t0001g0321 a0012c0034t0001g0327 a0016c0039t0001g0323 a0017c0040t0001g0268 a0018c0029t0008g0087 a0020c0048t0001g0134 a0023c0049t0002g0126	114	390	0.2923	37	c.145 others(54): Show c.145+5196_145+5197insGGGGAGGGGTGCGGGGCAGTGCGGAGCG CAGGTGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926937	C C	CTCCGCAC others(30): Show CTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	390	0.0026	37	c.145 others(54): Show c.145+5105_145+5106insCTGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(30): Show CCGCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01361.hp2 HG03239.hp1 others(2): Show HG01070.hp1 HG01361.hp2 HG03239.hp1 HG03654.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0002g0152 a0001c0001t0002g0155 others(2): Show a0001c0001t0001g0038 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157	5	390	0.0128	37	c.145 others(54): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927085	G G	GTCCGCAC others(30): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	390	0.0026	37	c.145 others(54): Show c.145+4957_145+4958insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927147	G G	GGCTCACC others(30): Show GGCTCACCTGCCCTCCGCACTGCCCCGCACCCCTCCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0253	1	390	0.0026	37	c.145 others(54): Show c.145+4895_145+4896insGGGGAGGGGTGCGGGGCAGTGCGGAGGG CAGGTGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(30): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03491.hp1 HG01175.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0039 a0001c0002t0001g0040	2	390	0.0051	37	c.145 others(54): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927321	G G	GCACCCCT others(30): Show GCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00738.hp2 others(1): Show HG00140.hp2 HG00735.hp1 HG00738.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0273 a0001c0005t0002g0247 a0001c0005t0002g0248 others(1): Show a0001c0001t0001g0273 a0001c0005t0002g0247 a0001c0005t0002g0248 a0001c0005t0002g0250	4	390	0.0103	37	c.145 others(54): Show c.145+4721_145+4722insTGGGGCAGTGCGGAGGGCAGGTGAGCCG GGAGGGGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927381	G G	GTCCGCAC others(30): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	390	0.0026	37	c.145 others(54): Show c.145+4661_145+4662insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927381	G G	GTCCGCAC others(30): Show GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp2 HG02559.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0033 a0001c0005 a0001c0033	a0001c0005t0002 a0001c0033t0001 a0001c0005t0002 a0001c0033t0001	a0001c0005t0002g0054 a0001c0033t0001g0053 a0001c0005t0002g0054 a0001c0033t0001g0053	2	390	0.0051	37	c.145 others(54): Show c.145+4661_145+4662insGCGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927430	C C	CCGCACCC others(30): Show CCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02071.hp1 others(6): Show HG01884.hp2 HG02055.hp2 HG02071.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp2 NA19043.hp1 NA20129.hp2	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0001c0002 a0006c0013 others(1): Show a0001c0001 a0001c0002 a0006c0013 a0017c0040	a0001c0001t0001 a0001c0002t0001 a0006c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0006c0013t0001 a0017c0040t0001	a0001c0001t0001g0273 a0001c0002t0001g0265 a0001c0002t0001g0267 others(6): Show a0001c0001t0001g0273 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0006c0013t0001g0266 a0006c0013t0001g0270 a0006c0013t0001g0271 a0006c0013t0001g0279 a0017c0040t0001g0268	9	390	0.0231	37	c.145 others(54): Show c.145+4612_145+4613insAGGCAGTGCGGACTGCAGGTGAGCCGGG AGGGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927707	C C	CGCACTGC others(30): Show CGCACTGCCCCGCACCCCTCCCTGCTTACCTGCGCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(224): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0004 others(30): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0030 a0001c0031 a0001c0046 a0001c0047 a0002c0003 a0002c0036 a0003c0006 a0004c0009 a0004c0011 a0005c0016 a0005c0044 a0009c0025 a0010c0026 a0011c0041 a0012c0034 a0013c0045 a0016c0039 a0018c0029 a0019c0028 a0020c0048 a0022c0043 a0023c0049 a0024c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 a0001c0010t0002 a0001c0012t0001 a0001c0019t0002 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0030t0002 a0001c0031t0001 a0001c0046t0001 a0001c0047t0001 a0002c0003t0001 a0002c0036t0001 a0003c0006t0001 a0004c0009t0001 a0004c0009t0006 a0004c0011t0001 a0005c0016t0001 a0005c0044t0001 a0009c0025t0002 a0010c0026t0002 a0011c0041t0001 a0012c0034t0001 a0013c0045t0001 a0016c0039t0001 a0018c0029t0008 a0019c0028t0001 a0020c0048t0001 a0022c0043t0001 a0023c0049t0002 a0024c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 others(222): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0138 a0001c0001t0005g0296 a0001c0001t0007g0351 a0001c0002t0001g0018 a0001c0002t0001g0313 a0001c0004t0001g0016 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0100 a0001c0008t0001g0101 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0008t0001g0309 a0001c0008t0001g0310 a0001c0010t0002g0342 a0001c0010t0002g0343 a0001c0010t0002g0344 a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 a0001c0012t0001g0015 a0001c0019t0002g0107 a0001c0019t0002g0127 a0001c0021t0001g0292 a0001c0023t0001g0077 a0001c0024t0001g0021 a0001c0030t0002g0294 a0001c0031t0001g0116 a0001c0046t0001g0080 a0001c0047t0001g0065 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0334 a0002c0003t0001g0357 a0002c0036t0001g0284 a0003c0006t0001g0287 a0003c0006t0001g0298 a0003c0006t0001g0319 a0003c0006t0001g0354 a0003c0006t0001g0356 a0003c0006t0001g0358 a0003c0006t0001g0360 a0003c0006t0001g0361 a0003c0006t0001g0362 a0003c0006t0001g0363 a0003c0006t0001g0364 a0003c0006t0001g0365 a0003c0006t0001g0366 a0003c0006t0001g0367 a0003c0006t0001g0368 a0003c0006t0001g0369 a0003c0006t0001g0370 a0003c0006t0001g0371 a0003c0006t0001g0372 a0003c0006t0001g0373 a0003c0006t0001g0374 a0004c0009t0001g0378 a0004c0009t0001g0379 a0004c0009t0001g0381 a0004c0009t0006g0377 a0004c0011t0001g0293 a0004c0011t0001g0382 a0004c0011t0001g0383 a0004c0011t0001g0384 a0005c0016t0001g0291 a0005c0016t0001g0300 a0005c0016t0001g0301 a0005c0044t0001g0102 a0009c0025t0002g0118 a0010c0026t0002g0136 a0011c0041t0001g0321 a0012c0034t0001g0327 a0013c0045t0001g0093 a0016c0039t0001g0323 a0018c0029t0008g0087 a0019c0028t0001g0380 a0020c0048t0001g0134 a0022c0043t0001g0359 a0023c0049t0002g0126 a0024c0020t0001g0006	227	390	0.5821	37	c.145 others(54): Show c.145+4299_145+4335dupAGAGCGCAGGTAAGCAGGGAGGGGTGCG GGGCAGTGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927717	C C	CGCACCCC others(30): Show CGCACCCCTCCCTGCTTACCTGCGCTCTGCACTGCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00673.hp1 others(21): Show HG00140.hp1 HG00642.hp1 HG00673.hp1 HG01175.hp1 HG02015.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG03486.hp2 HG03491.hp1 NA18612.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18982.hp1 NA18984.hp2 NA18999.hp1 NA19001.hp2 NA19010.hp2 NA19054.hp2 NA19068.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0033 a0021c0027	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0033t0001 a0021c0027t0001	a0001c0001t0001g0044 a0001c0002t0001g0024 a0001c0002t0001g0025 others(21): Show a0001c0001t0001g0044 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0005t0002g0054 a0001c0033t0001g0053 a0021c0027t0001g0035	24	390	0.0615	37	c.145 others(54): Show c.145+4325_145+4326insAGGGCAGTGCAGAGCGCAGGTAAGCAGG GAGGGGTGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927739	C C	CGCTCTGC others(30): Show CGCTCTGCACTGCCCCGCACCCCTCCCTGCTTACCTGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	390	0.0026	37	c.145 others(54): Show c.145+4303_145+4304insTCAGGTAAGCAGGGAGGGGTGCGGGGCA GTGCAGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927754	C C	CGCACCCC others(30): Show CGCACCCCTCCCTGCTTACCTGCGCTCTGCACTGCCCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0353 a0003c0006t0001g0353	1	390	0.0026	37	c.145 others(54): Show c.145+4288_145+4289insAGGGCAGTGCAGAGCGCAGGTAAGCAGG GAGGGGTGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805253	C C	CCCCCTCA others(30): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	37	c.10 others(48): Show c.1087_*1088insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		967		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805253	C C	CCCCCTCA others(30): Show CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	314	0.0032	37	c.10 others(48): Show c.1087_*1088insCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		967		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805331	C C	CCCCCTCA others(30): Show CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	314	0.0032	37	c.11 others(48): Show c.1165_*1166insCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1045		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805639	C C	CCCCCTCA others(30): Show CCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	314	0.0032	37	c.14 others(48): Show c.1473_*1474insCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1353		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805904	C C	CCCCCTCA others(30): Show CCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	314	0.0032	37	c.17 others(48): Show c.1738_*1739insCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1618		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806321	G G	GGAACCTC others(30): Show GGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	314	0.0032	37	c.21 others(48): Show c.2155_*2156insGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAAC CCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2035		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806324	A A	ACCTCCGC others(30): Show ACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	314	0.0032	37	c.21 others(48): Show c.2158_*2159insCCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2038		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806324	A A	ACCTCTGC others(30): Show ACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	314	0.0032	37	c.21 others(48): Show c.2158_*2159insCCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCA GGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2038		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807301	C C	CCCCCTCA others(30): Show CCCCCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	314	0.0032	37	c.31 others(48): Show c.3135_*3136insCCCCTCAACCCAGAGACCTCCGCAGGCCACCTTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3015		chr2	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	348	0.0029	37	c.267 others(54): Show c.267-7163_267-7162insATATATATATATATATATATATATATAT ACATATATT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(30): Show ATATATATATATGTATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01099.hp1 others(7): Show HG01074.hp2 HG01081.hp1 HG01099.hp1 HG02523.hp1 HG02698.hp2 NA18943.hp2 NA18962.hp1 NA19011.hp2 NA19063.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 others(7): Show a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0168	10	348	0.0287	37	c.267 others(54): Show c.267-7163_267-7162insATATATATATGTATATATATATATATAT ACATATATT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228688	T T	TATATATA others(30): Show TATATATATATGTATATATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	348	0.0029	37	c.267 others(54): Show c.267-7163_267-7162insATATATATATGTATATATATATATATAT ACATATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9			chr15	TogoVar
GALM_chr2_38661114_38739765	38686227	T T	TCCTTCCT others(30): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp2 HG02074.hp2 others(2): Show HG00673.hp1 HG01934.hp2 HG02074.hp2 HG02129.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	5	328	0.0152	37	c.553 others(54): Show c.553-3585_553-3584insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686231	T T	TCCTTCCT others(30): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02280.hp2 NA18970.hp2 HG02074.hp1 HG02280.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0243 a0001c0001t0001g0272 a0001c0001t0006g0206 a0001c0001t0001g0243 a0001c0001t0001g0272 a0001c0001t0006g0206	3	328	0.0092	37	c.553 others(54): Show c.553-3581_553-3580insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88831526	T T	TGGGGGGG others(30): Show TGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	404	0.0025	37	c.100 others(54): Show c.1002+471_1002+472insCACGCACCCCGTGCTCGGCCTCACCGCT CTCCCCCCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar

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