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
ADARB2_chr10_1172313_1742525	1182509	G G	GGGTGTTT others(34): Show GGGTGTTTCCAGGCTCCCCACATCTGCAGCACGCGTGGGCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02622.hp2 others(6): Show HG01884.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0036 a0001c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0036g0072 a0001c0003t0001g0052 a0001c0003t0001g0070	9	106	0.0849	41	c.68 others(50): Show c.683_*684insTGGCCCACGCGTGCTGCAGATGTGGGGAGCCTGGAA ACACC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	10/10	683		chr10	TogoVar
ADARB2_chr10_1172313_1742525	1396795	G G	GAGGCTTC others(34): Show GAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(59): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18967.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0014 a0002c0016 a0003c0006 a0004c0005 a0006c0012 a0007c0011 a0008c0013 a0009c0010 a0010c0009 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0040 a0001c0003t0045 a0001c0003t0060 a0001c0007t0033 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0026 a0002c0002t0042 a0002c0002t0046 a0002c0002t0062 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0002c0004t0028 a0002c0004t0047 a0002c0014t0008 a0002c0016t0006 a0003c0006t0003 a0003c0006t0067 a0004c0005t0037 a0006c0012t0007 a0007c0011t0034 a0008c0013t0020 a0009c0010t0006 a0010c0009t0024 a0011c0008t0016	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 others(59): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0003g0097 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0026 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0036g0072 a0001c0001t0049g0040 a0001c0001t0050g0077 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0001g0052 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0040g0073 a0001c0003t0045g0057 a0001c0003t0060g0104 a0001c0007t0033g0041 a0001c0007t0066g0105 a0002c0002t0002g0066 a0002c0002t0004g0084 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0021g0035 a0002c0002t0026g0032 a0002c0002t0042g0061 a0002c0002t0046g0056 a0002c0002t0062g0093 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0014t0008g0060 a0002c0016t0006g0010 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0037g0064 a0006c0012t0007g0006 a0007c0011t0034g0076 a0008c0013t0020g0037 a0009c0010t0006g0014 a0010c0009t0024g0016 a0011c0008t0016g0003	62	106	0.5849	41	c.101 others(60): Show c.101-17636_101-17635insGCACTCGGGAGGGGAGAGGCTGATGG TGACCCAGGAAGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1396795	G G	GAGGCTTC others(34): Show GAGGCTTCCTGGGTCACCATCAGCCTCTCCCGTCCCGAGTGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0036 a0001c0001t0025g0036	1	106	0.0094	41	c.101 others(60): Show c.101-17636_101-17635insGCACTCGGGACGGGAGAGGCTGATGG TGACCCAGGAAGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1397269	C C	CCTCTCCC others(34): Show CCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(58): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18967.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19086.hp1 NA19086.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0007 others(11): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0006c0012 a0007c0011 a0008c0013 a0009c0010 a0010c0009 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(50): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0040 a0001c0003t0045 a0001c0003t0060 a0001c0007t0033 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0042 a0002c0002t0062 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0002c0004t0028 a0002c0004t0047 a0002c0016t0006 a0003c0006t0003 a0003c0006t0067 a0004c0005t0037 a0006c0012t0007 a0007c0011t0034 a0008c0013t0020 a0009c0010t0006 a0010c0009t0024 a0011c0008t0016	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 others(58): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0003g0097 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0026 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0025g0036 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0036g0072 a0001c0001t0049g0040 a0001c0001t0050g0077 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0001g0052 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0040g0073 a0001c0003t0045g0057 a0001c0003t0060g0104 a0001c0007t0033g0041 a0001c0007t0066g0105 a0002c0002t0002g0066 a0002c0002t0004g0084 a0002c0002t0004g0095 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0021g0035 a0002c0002t0042g0061 a0002c0002t0062g0093 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0016t0006g0010 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0037g0064 a0006c0012t0007g0006 a0007c0011t0034g0076 a0008c0013t0020g0037 a0009c0010t0006g0014 a0010c0009t0024g0016 a0011c0008t0016g0003	61	106	0.5755	41	c.101 others(60): Show c.101-18110_101-18109insACGGACGGTGACCCAGGAAGCCTCCA CTCGGGAGGGGAGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1397285	T T	TGGAGGCT others(34): Show TGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0060 a0002c0014t0008g0060	1	106	0.0094	41	c.101 others(60): Show c.101-18126_101-18125insGCTCGGGAGGGGAGAGACGGACGGTG ACCCAGGAAGCCTCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1518951	A A	ATGCATTC others(34): Show ATGCATTCCACGTAACGTCTGCATGTGGTGTGGTCATATGCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	41	c.101 others(62): Show c.101-139832_101-139792dupGGCATATGACCACACCACATGCAG ACGTTACGTGGAATGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA18964.hp2 HG02630.hp2 NA18964.hp2	a0001 a0004 a0001 a0004	a0001c0008 a0004c0005 a0001c0008 a0004c0005	a0001c0008t0014 a0004c0005t0008 a0001c0008t0014 a0004c0005t0008	a0001c0008t0014g0221 a0004c0005t0008g0107 a0001c0008t0014g0221 a0004c0005t0008g0107	2	348	0.0058	41	c.-17 others(52): Show c.-1753_-1752insATATATATATATATATATATATATATATATATAT ATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0095 a0003c0003t0010g0096 a0003c0003t0010g0095 a0003c0003t0010g0096	2	348	0.0058	41	c.-17 others(52): Show c.-1753_-1752insAAAAAAAAATATATATATATATATATATATATAT ATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03492.hp2 HG04115.hp2 HG03209.hp1 HG03492.hp2 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0004c0011 a0001c0001 a0001c0012 a0004c0011	a0001c0001t0008 a0001c0012t0045 a0004c0011t0001 a0001c0001t0008 a0001c0012t0045 a0004c0011t0001	a0001c0001t0008g0013 a0001c0012t0045g0035 a0004c0011t0001g0178 a0001c0001t0008g0013 a0001c0012t0045g0035 a0004c0011t0001g0178	3	278	0.0108	41	c.102 others(60): Show c.1021-6724_1021-6723insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0021 a0001c0007t0006g0021	1	140	0.0071	41	c.721 others(60): Show c.721-17421_721-17420insAAAAAAAAAAATATATATATATATAT ATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY8_chr8_130775301_131045909	130846849	C C	CCTTCCCT others(34): Show CCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG03017.hp1 others(4): Show HG01106.hp1 HG01175.hp2 HG03017.hp1 HG03654.hp1 NA18957.hp2 NA19002.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0040 a0001c0001t0001g0126 a0001c0001t0002g0169 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0126 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0163 a0001c0004t0001g0202 a0001c0004t0002g0204	7	246	0.0285	41	c.250 others(58): Show c.2502+574_2502+575insAGGGAAGGGAAGGGAGGGGAGGGAAGGG AAGGGAAGGGAAG	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	11/17			chr8	TogoVar
ADGRA1_chr10_133082924_133136675	133087071	A A	AGGGAACA others(34): Show AGGGAACAGGTGGAGGGGTGTGGGGTCACCCAGGGCCAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01256.hp1 others(1): Show HG01081.hp2 HG01106.hp2 HG01256.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0063 a0001c0001t0080 a0001c0006t0037 a0001c0001t0063 a0001c0001t0080 a0001c0006t0037	a0001c0001t0063g0319 a0001c0001t0080g0091 a0001c0006t0037g0077 others(1): Show a0001c0001t0063g0319 a0001c0001t0080g0091 a0001c0006t0037g0077 a0001c0006t0037g0086	4	368	0.0109	41	c.-12 others(52): Show c.-1270_-1269insGGGAACAGGTGGAGGGGTGTGGGGTCACCCAGGG CCAAAGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		852		chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(34): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03654.hp1 NA19043.hp1 HG02451.hp2 HG03654.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0019 a0001c0001 a0001c0010 a0001c0019	a0001c0001t0005 a0001c0010t0011 a0001c0019t0004 a0001c0001t0005 a0001c0010t0011 a0001c0019t0004	a0001c0001t0005g0210 a0001c0010t0011g0050 a0001c0019t0004g0225 a0001c0001t0005g0210 a0001c0010t0011g0050 a0001c0019t0004g0225	3	368	0.0082	41	c.401 others(58): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(34): Show AACCACCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0247 a0001c0003t0016g0247	1	368	0.0027	41	c.401 others(58): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111307	C C	CCTCCCTC others(34): Show CCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCACAGACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0290 a0001c0002t0007g0290	1	368	0.0027	41	c.401 others(58): Show c.401+8466_401+8467insTCCCTCCTAATCCCACCAGACCACCTGC CCGCCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111307	C C	CCTCCCTC others(34): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0201 a0001c0001t0017g0201	1	368	0.0027	41	c.401 others(58): Show c.401+8466_401+8467insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGGCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(34): Show CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0049 a0001c0010t0011g0049	1	368	0.0027	41	c.401 others(58): Show c.401+8844_401+8845insTCCCTCCTAATCCCACCAGACAACCTGC CCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(34): Show CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	1	368	0.0027	41	c.401 others(58): Show c.401+8844_401+8845insTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGGCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(34): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0299 a0001c0003t0009g0299	1	368	0.0027	41	c.401 others(58): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGGCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142548466	G G	GGGTGGAT others(34): Show GGGTGGATGGATGGGGGATGGATGGATGGTAGATGGATGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(89): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0024 a0001c0026 a0001c0030 a0002c0005 a0002c0019 a0004c0012 a0009c0037 a0010c0023 a0012c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0004 a0001c0007t0001 a0001c0007t0003 a0001c0008t0010 a0001c0011t0003 a0001c0013t0001 a0001c0013t0003 a0001c0015t0001 a0001c0015t0004 a0001c0016t0001 a0001c0024t0001 a0001c0026t0001 a0001c0030t0001 a0002c0005t0001 a0002c0005t0005 a0002c0019t0002 a0004c0012t0001 a0009c0037t0002 a0010c0023t0001 a0012c0039t0003	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0034 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0003g0086 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0204 a0001c0001t0009g0203 a0001c0001t0013g0051 a0001c0001t0014g0155 a0001c0002t0001g0047 a0001c0002t0001g0125 a0001c0003t0001g0055 a0001c0003t0001g0080 a0001c0003t0001g0097 a0001c0003t0001g0138 a0001c0003t0001g0152 a0001c0003t0001g0241 a0001c0003t0002g0101 a0001c0003t0003g0131 a0001c0004t0001g0121 a0001c0004t0003g0250 a0001c0006t0001g0289 a0001c0006t0004g0243 a0001c0007t0001g0253 a0001c0007t0003g0276 a0001c0008t0010g0173 a0001c0011t0003g0239 a0001c0013t0001g0096 a0001c0013t0003g0049 a0001c0015t0001g0024 a0001c0015t0004g0282 a0001c0016t0001g0273 a0001c0024t0001g0085 a0001c0026t0001g0201 a0001c0030t0001g0263 a0002c0005t0001g0016 a0002c0005t0001g0018 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0005g0245 a0002c0019t0002g0017 a0004c0012t0001g0108 a0004c0012t0001g0114 a0009c0037t0002g0271 a0010c0023t0001g0166 a0012c0039t0003g0237	92	310	0.2968	41	c.40 others(52): Show c.4049_*4050insGGTGGATGGATGGGGGATGGATGGATGGTAGATG GATGGAT	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding		3460		chr8	TogoVar
ADGRB3_chr6_68630282_69394506	69030956	T T	TTTTCTTT others(34): Show TTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02897.hp1 HG03209.hp1 HG01167.hp1 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0101 a0001c0002t0001g0002 a0001c0002t0001g0043 a0001c0001t0002g0101 a0001c0002t0001g0002 a0001c0002t0001g0043	3	120	0.0250	41	c.210 others(62): Show c.2107+12460_2107+12461insCTTTTCTTTTCTTTTCTTTTTTCT TTTCTTTTCTTTTCTTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031552	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	120	0.0083	41	c.210 others(62): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31			chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14749729	G G	GTAATTAT others(34): Show GTAATTATTTATAGTTATATAATTATTTATAGCTATGTTATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG02132.hp2 others(10): Show HG00438.hp2 HG01074.hp2 HG02132.hp2 HG02155.hp2 HG02698.hp2 HG03654.hp2 HG03669.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18971.hp2 NA19010.hp1 NA19084.hp1	a0002 a0005 a0023 a0002 a0005 a0023	a0002c0002 a0005c0006 a0005c0020 others(2): Show a0002c0002 a0005c0006 a0005c0020 a0005c0041 a0023c0029	a0002c0002t0023 a0002c0002t0025 a0002c0002t0054 others(6): Show a0002c0002t0023 a0002c0002t0025 a0002c0002t0054 a0005c0006t0015 a0005c0006t0018 a0005c0020t0018 a0005c0020t0045 a0005c0041t0018 a0023c0029t0032	a0002c0002t0023g0011 a0002c0002t0023g0012 a0002c0002t0025g0086 others(10): Show a0002c0002t0023g0011 a0002c0002t0023g0012 a0002c0002t0025g0086 a0002c0002t0025g0103 a0002c0002t0054g0134 a0005c0006t0015g0083 a0005c0006t0015g0084 a0005c0006t0015g0090 a0005c0006t0018g0192 a0005c0020t0018g0185 a0005c0020t0045g0133 a0005c0041t0018g0172 a0023c0029t0032g0053	13	218	0.0596	41	c.202 others(60): Show c.2024+1706_2024+1707insTATAACATAGCTATAAATAATTATAT AACTATAAATAATTA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14749889	G G	GTAATTAT others(34): Show GTAATTATTTATAGTTACATAATTATTTATAGCTATGTTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01123.hp2 others(2): Show HG00738.hp1 HG01123.hp1 HG01123.hp2 HG03195.hp1 HG06807.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0019 a0004c0004t0016 a0001c0001t0001 a0002c0002t0019 a0004c0004t0016	a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0002t0019g0040 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0002t0019g0040 a0002c0002t0019g0041 a0004c0004t0016g0123	5	218	0.0229	41	c.202 others(60): Show c.2024+1546_2024+1547insTATAACATAGCTATAAATAATTATGT AACTATAAATAATTA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14749930	G G	GTAATTAT others(34): Show GTAATTATTTATAGTTACATAATTATTTATAGCTATGTTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00639.hp2 others(78): Show HG00099.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19010.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0009 a0012 a0019 a0021 a0028 a0029	a0001c0001 a0001c0010 a0001c0011 others(11): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0002c0013 a0002c0032 a0004c0004 a0009c0018 a0012c0016 a0019c0038 a0021c0028 a0028c0022 a0029c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 a0001c0001t0051 a0001c0010t0001 a0001c0011t0009 a0001c0011t0044 a0001c0012t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0014 a0002c0013t0006 a0002c0032t0003 a0004c0004t0007 a0004c0004t0016 a0004c0004t0020 a0004c0004t0036 a0004c0004t0042 a0009c0018t0001 a0009c0018t0041 a0012c0016t0001 a0019c0038t0001 a0021c0028t0001 a0028c0022t0001 a0029c0021t0006	a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 others(78): Show a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0003g0063 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0006g0009 a0001c0001t0006g0019 a0001c0001t0006g0029 a0001c0001t0047g0150 a0001c0001t0051g0191 a0001c0010t0001g0168 a0001c0011t0009g0115 a0001c0011t0009g0130 a0001c0011t0044g0114 a0001c0012t0009g0128 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0174 a0002c0002t0003g0088 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0006g0005 a0002c0002t0006g0037 a0002c0002t0006g0055 a0002c0002t0009g0121 a0002c0002t0014g0057 a0002c0002t0014g0058 a0002c0013t0006g0051 a0002c0032t0003g0099 a0004c0004t0007g0006 a0004c0004t0007g0047 a0004c0004t0007g0054 a0004c0004t0016g0122 a0004c0004t0016g0124 a0004c0004t0020g0042 a0004c0004t0036g0062 a0004c0004t0042g0104 a0009c0018t0001g0213 a0009c0018t0041g0102 a0012c0016t0001g0151 a0012c0016t0001g0154 a0019c0038t0001g0175 a0021c0028t0001g0149 a0028c0022t0001g0119 a0029c0021t0006g0010	81	218	0.3716	41	c.202 others(60): Show c.2024+1505_2024+1506insTATAACATAGCTATAAATAATTATGT AACTATAAATAATTA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617337	C C	CCTTTCTT others(34): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	372	0.0027	41	c.20 others(52): Show c.2095_*2096insAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1779		chr19	TogoVar
ADGRG4_chrX_136295963_136421890	136383881	C C	CTTTCTTC others(34): Show CTTTCTTCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18991.hp1 NA19056.hp1 HG00639.hp2 NA18991.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0024 a0003c0003t0001g0099 a0003c0003t0001g0021 a0003c0003t0001g0024 a0003c0003t0001g0099	3	229	0.0131	41	c.777 others(60): Show c.7777-3857_7777-3856insTCTTCTTTCTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTT	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	15/25		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(34): Show TAAAATAAAATAAAATAAAATAAAATAAAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG03209.hp2 others(1): Show HG01891.hp2 HG02723.hp1 HG03209.hp2 HG03453.hp2	a0017 a0023 a0057 others(1): Show a0017 a0023 a0057 a0073	a0017c0030 a0023c0024 a0057c0028 others(1): Show a0017c0030 a0023c0024 a0057c0028 a0073c0097	a0017c0030t0001 a0023c0024t0007 a0057c0028t0001 others(1): Show a0017c0030t0001 a0023c0024t0007 a0057c0028t0001 a0073c0097t0001	a0017c0030t0001g0151 a0023c0024t0007g0154 a0057c0028t0001g0153 others(1): Show a0017c0030t0001g0151 a0023c0024t0007g0154 a0057c0028t0001g0153 a0073c0097t0001g0147	4	158	0.0253	41	c.974 others(58): Show c.9748+533_9748+534insAAATAAAATAAAAATAAAATATAAAAAA ATAAAATAAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCTTCC others(34): Show CTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02165.hp2 HG03491.hp1 others(1): Show HG00642.hp2 HG02165.hp2 HG03491.hp1 HG03492.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0002 a0002c0002t0008 a0003c0006t0002 a0002c0002t0002 a0002c0002t0008 a0003c0006t0002	a0002c0002t0002g0274 a0002c0002t0008g0318 a0003c0006t0002g0028 a0002c0002t0002g0274 a0002c0002t0008g0318 a0003c0006t0002g0028	4	452	0.0089	41	c.111 others(60): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGGAAGGAAGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADSS2_chr1_244403494_244456909	244435168	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	408	0.0025	41	c.355 others(58): Show c.355+1656_355+1657insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12			chr1	TogoVar
AEBP2_chr12_19434492_19527227	19479609	A A	AATTATTT others(34): Show AATTATTTTATAAATTTGGGAGCTCCAGTTGGGTGCATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show NA18953.hp2 NA18972.hp1 NA18982.hp1 NA18998.hp1 NA19004.hp2 NA19054.hp2 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0046 a0001c0001t0016 a0001c0001t0019 a0001c0001t0046	a0001c0001t0016g0035 a0001c0001t0016g0036 a0001c0001t0016g0038 others(5): Show a0001c0001t0016g0035 a0001c0001t0016g0036 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0019g0034 a0001c0001t0019g0037 a0001c0001t0019g0040 a0001c0001t0046g0032	8	404	0.0198	41	c.987 others(58): Show c.987+6258_987+6298dupATTTTATAAATTTGGGAGCTCCAGTTGG GTGCATATATATT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	262	0.0038	41	c.316 others(58): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATATATATATAT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFDN_chr6_167821911_167977023	167976249	A A	AGGAGGAG others(34): Show AGGAGGAGGCAGTGGGGGGTCACTCCCCTGCAGTGTGTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0020 a0002c0014t0001g0020	1	326	0.0031	41	c.63 others(52): Show c.6314_*6315insGGAGGAGGCAGTGGGGGGTCACTCCCCTGCAGTG TGTTGGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4227		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976371	G G	GAGGAGGA others(34): Show GAGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	326	0.0031	41	c.64 others(52): Show c.6436_*6437insAGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGC AGTGTGT	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4349		chr6	TogoVar
AFF1_chr4_86930011_87146039	86969879	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0249 a0001c0002t0005g0249	1	294	0.0034	41	c.38+ others(58): Show c.38+21326_38+21327insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCCTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0114 a0001c0002t0032g0114	1	169	0.0059	41	c.48- others(58): Show c.48-37259_48-37258insCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCCTTCTTTTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTT others(34): Show TTTCTTTTCTTTCTTTCTTTCCTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0108 a0001c0002t0047g0108	1	169	0.0059	41	c.48- others(58): Show c.48-37259_48-37258insCTTTTCTTTCTTTCTTTCCTTCTTTTCT TTCTTTCTTTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFMID_chr17_78182362_78212702	78212677	G G	GCACCACA others(34): Show GCACCACACCACAACAACCCCTATACATCAACCCCCACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	446	0.0022	41	c.57 others(52): Show c.5740_*5741insCACCACACCACAACAACCCCTATACATCAACCCC CACCCCA	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding		4976		chr17	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0095 a0003c0003t0002g0095	1	356	0.0028	41	c.848 others(56): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	356	0.0028	41	c.848 others(56): Show c.848+373_848+374insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	356	0.0028	41	c.848 others(56): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	356	0.0028	41	c.848 others(56): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGMO_chr7_15195317_15567015	15529816	T T	TATATTTC others(34): Show TATATTTCTCTATATATATTCTATATATATATTTCTCTATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0180 a0014c0014t0001g0180	1	236	0.0042	41	c.409 others(60): Show c.409+14955_409+14956insGTATAGAGAAATATATATATAGAATA TATATAGAGAAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	374	0.0027	41	c.589 others(56): Show c.589-551_589-511dupCCCTTCCTGCTGCCAGTCCCCAGCCTACCT GCTGGCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(106): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0014 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0003t0001 a0001c0012t0001 a0001c0014t0001 a0002c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0072 a0001c0001t0002g0087 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0003g0165 a0001c0001t0008g0044 a0001c0001t0012g0021 a0001c0001t0012g0069 a0001c0001t0014g0036 a0001c0001t0020g0125 a0001c0003t0001g0010 a0001c0003t0001g0027 a0001c0003t0001g0176 a0001c0003t0001g0192 a0001c0012t0001g0148 a0001c0014t0001g0077 a0002c0002t0011g0053 a0002c0002t0011g0056 a0002c0002t0011g0059	109	374	0.2914	41	c.589 others(56): Show c.589-511_589-510insCCCTCCCTGCTGCCAGTCCCCAGCCTACCT GCTGGCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18990.hp1 NA19005.hp2 others(1): Show HG03139.hp2 NA18990.hp1 NA19005.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0092 a0001c0001t0002g0012 a0001c0001t0002g0092	4	374	0.0107	41	c.589 others(56): Show c.589-511_589-510insCCCTCCCTGCTCCCAGTCCCCAGCCTACCT GCTGGCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675388	G G	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18999.hp2 NA19003.hp2 HG02132.hp2 NA18999.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0037 a0001c0001t0001g0080 a0001c0001t0001g0088	3	374	0.0080	41	c.589 others(56): Show c.589-581_589-580insCCAGTCCCCAGCCTACCTGCTGGCCCCCTC CCTCCCTGCTG	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675388	G G	GAGCAGGG others(34): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01167.hp1 others(3): Show HG00733.hp1 HG01074.hp2 HG01167.hp1 HG01361.hp1 HG01515.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0107 a0001c0001t0002g0124 others(2): Show a0001c0001t0002g0046 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0162 a0001c0001t0002g0178	6	374	0.0160	41	c.589 others(56): Show c.589-622_589-582dupGCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02572.hp1 others(4): Show HG01099.hp1 HG02055.hp2 HG02572.hp1 HG02717.hp1 HG03139.hp2 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0002g0092 a0001c0001t0002g0094 others(3): Show a0001c0001t0001g0038 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0120 a0001c0001t0002g0233 a0001c0001t0003g0165	7	374	0.0187	41	c.589 others(56): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675436	A A	AAGGGAGG others(34): Show AAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	374	0.0027	41	c.589 others(56): Show c.589-630_589-629insCCCTGCTGCCAGTCCCCAGCCTACCTGCTG GCCCCCTCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar

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Search Results (Total: 2600 hits)