Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AMOTL1_chr11_94763356_94881748	94840681	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04228.hp1 HG02735.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0228 a0001c0001t0007g0229	2	246	0.0081	20	c.164 others(39): Show c.1648+9141_1648+9142insTATATATATATATATATACA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134372530	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG01258.hp2 others(2): Show HG00609.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0135 a0001c0001t0005g0034 a0002c0002t0002g0121 others(1): Show a0001c0001t0002g0135 a0001c0001t0005g0034 a0002c0002t0002g0121 a0002c0002t0003g0136	5	336	0.0149	20	c.-61 others(37): Show c.-61-1056_-61-1037dupGTGTGTGTGTGTGTGTGTGT		AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9						chr3	TogoVar
AMPD1_chr1_114668098_114700546	114677799	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03834.hp2 HG03540.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0001g0058 a0001c0001t0001g0091	2	358	0.0056	20	c.122 others(36): Show c.1224+91_1224+110dupAGGAAGGAAGGAAGGAAGGA		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15						chr1	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 NA19081.hp1 HG03669.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0032 a0002c0002t0002g0006 a0002c0002t0001g0032 a0002c0002t0002g0006	2	388	0.0052	20	c.-49 others(31): Show c.-4921_-4920insAAAAGAAAAGAAAAGAAAAG		AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding					4216		chr1	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG02080.hp2 others(5): Show HG01070.hp2 HG01099.hp2 HG02080.hp2 HG02129.hp1 HG02965.hp1 HG03491.hp1 NA18988.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0073 a0001c0001t0001g0190 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0190 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0004g0054 a0001c0002t0002g0108 a0001c0002t0002g0191 a0001c0003t0002g0010	8	288	0.0278	20	c.139 others(41): Show c.1398+10784_1398+10803dupAGAGAGAGAGAGAGAGAGAG		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0152 a0001c0003t0002g0153	2	288	0.0069	20	c.139 others(41): Show c.1398+10776_1398+10777insTATATATAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	288	0.0035	20	c.139 others(41): Show c.1398+10776_1398+10777insTATATAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02895.hp1 NA18971.hp1 HG02300.hp1 HG02895.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0247 a0001c0002t0002g0008 a0001c0002t0002g0093 a0001c0001t0001g0247 a0001c0002t0002g0008 a0001c0002t0002g0093	3	288	0.0104	20	c.139 others(41): Show c.1398+10776_1398+10777insTATAGAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18980.hp1 NA19056.hp1 HG00733.hp2 NA18980.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0099 a0001c0001t0001g0235 a0001c0002t0002g0035 a0001c0001t0001g0099 a0001c0001t0001g0235 a0001c0002t0002g0035	3	288	0.0104	20	c.139 others(41): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01981.hp1 others(4): Show HG01168.hp1 HG01515.hp1 HG01981.hp1 HG02615.hp1 HG03453.hp1 HG03704.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0004 a0001c0001t0001 a0001c0001t0003 a0003c0006t0004	a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0101 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0270 a0001c0001t0003g0159 a0001c0001t0003g0197 a0003c0006t0004g0011	7	288	0.0243	20	c.139 others(39): Show c.1398+1703_1398+1722dupATATATATATATATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38441770	G G	GATATATA others(13): Show GATATATATCATATATCTATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp1 HG03540.hp1 HG02615.hp1 HG03130.hp1 HG03540.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0011 a0003c0006t0004g0088 a0003c0006t0004g0138 a0003c0006t0004g0011 a0003c0006t0004g0088 a0003c0006t0004g0138	3	288	0.0104	20	c.101 others(39): Show c.1018-5383_1018-5382insGATAGATATATGATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38441815	A A	ATATCATA others(13): Show ATATCATATATCTATCATATC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp1 HG02056.hp1 others(17): Show HG00621.hp1 HG01168.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02630.hp1 HG02976.hp2 HG03491.hp1 HG03669.hp1 NA18959.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA20129.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0007 a0004c0011 others(1): Show a0001c0001 a0001c0007 a0004c0011 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0007t0001 a0004c0011t0001 a0008c0015t0001	a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 others(17): Show a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0190 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0003g0075 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0006g0277 a0001c0007t0001g0090 a0004c0011t0001g0072 a0008c0015t0001g0226	20	288	0.0694	20	c.101 others(39): Show c.1018-5428_1018-5427insGATATGATAGATATATGATA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38525258	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	288	0.0035	20	c.150 others(37): Show c.150+9672_150+9673insTATATATATATATATATACA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20						chr7	TogoVar
AMTN_chr4_70513569_70537743	70516392	A A	ATATACGT others(13): Show ATATACGTATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0128 a0004c0005t0001g0128	1	458	0.0022	20	c.-22 others(31): Show c.-2278_-2277insTATACGTATATATATATACG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2176		chr4	TogoVar
AMZ1_chr7_2683202_2724683	2715935	G G	GCAAAGTC others(13): Show GCAAAGTCCACTGAATTGCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02735.hp1 HG02602.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0036 a0002c0003t0036	a0002c0003t0036g0030 a0002c0003t0036g0117 a0002c0003t0036g0030 a0002c0003t0036g0117	2	438	0.0046	20	c.30 others(31): Show c.3058_*3077dupCAAAGTCCACTGAATTGCTT		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7				3078	INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01070.hp1 others(9): Show HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01346.hp2 HG01361.hp1 HG02056.hp2 HG02300.hp1 HG03669.hp2 NA18942.hp1 NA18943.hp2 NA18968.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0001g0270 a0001c0001t0001g0271 others(9): Show a0001c0001t0001g0109 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0002g0265 a0001c0001t0002g0305	12	336	0.0357	20	c.328 others(39): Show c.328-15753_328-15734dupATTTTATTTTATTTTATTTT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02080.hp2 HG02647.hp2 others(3): Show HG00621.hp1 HG02080.hp2 HG02647.hp2 HG03942.hp2 NA18977.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0222 a0001c0001t0001g0245	6	336	0.0179	20	c.328 others(39): Show c.328-31343_328-31342insCACACATATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(13): Show ATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	336	0.0030	20	c.328 others(39): Show c.328-31343_328-31342insCACACACATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02109.hp2 HG02135.hp1 others(13): Show HG02004.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02976.hp2 NA18522.hp1 NA18947.hp1 NA18963.hp2 NA18980.hp2 NA18990.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0034 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0331	16	336	0.0476	20	c.327 others(39): Show c.327+30029_327+30048dupTATATATATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC11_chr17_81886723_81905255	81892542	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	312	0.0032	20	c.-75 others(35): Show c.-75+701_-75+702insTTTTTTTTTTTTTTTTTTGA		ANAPC11	ENSG00000141552.18	transcript	ENST00000344877.10	protein_coding	1/3						chr17	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18946.hp1 NA18974.hp2 others(2): Show HG00609.hp1 NA18946.hp1 NA18974.hp2 NA18997.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0034 others(2): Show a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0059 a0002c0004t0003g0024	5	352	0.0142	20	c.-28 others(37): Show c.-28+2009_-28+2028dupAAAAAAAAAAAAAAAAAAAA		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0268	1	370	0.0027	20	c.44 others(31): Show c.4477_*4478insGTGTGTGTATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0363 a0001c0007t0004g0363	1	370	0.0027	20	c.44 others(31): Show c.4477_*4478insGTGTGTATATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0195 a0001c0002t0004g0195	1	370	0.0027	20	c.44 others(31): Show c.4477_*4478insGTATATATATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111770201	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0140 a0001c0007t0002g0142 a0001c0007t0002g0140 a0001c0007t0002g0142	2	370	0.0054	20	c.572 others(37): Show c.5720-815_5720-796dupTATATATATATATATATATA		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	47/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19085.hp2 NA18939.hp1 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0155 a0001c0004t0003g0171 a0001c0004t0003g0155 a0001c0004t0003g0171	2	370	0.0054	20	c.247 others(37): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111843276	G G	GATACAAT others(13): Show GATACAATAAACCTTAATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0307 a0001c0001t0014g0307	1	370	0.0027	20	c.204 others(37): Show c.2040+135_2040+136insATTATTAAGGTTTATTGTAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	17/47						chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121353435	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	278	0.0036	20	c.-11 others(31): Show c.-1115_-1096dupCAAAACAAAACAAAACAAAA		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding					1025		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121357376	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	278	0.0036	20	c.-50 others(31): Show c.-5056_-5037dupCTTTCTTTCTTTCTTTCTTT		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding					4966		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382461	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	298	0.0034	20	c.935 others(35): Show c.935+362_935+381dupATATATATATATATATATAT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387255	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	298	0.0034	20	c.674 others(35): Show c.674+464_674+483dupCTCTCTCTCTCTCTCTCTCT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387353	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	298	0.0034	20	c.674 others(35): Show c.674+385_674+386insCTGTCTCTCTCTCTCTCTCT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10						chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107256722	G G	GGAAGGCA others(13): Show GGAAGGCACTTCAAGCCTGAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0160 a0001c0001t0014g0160	1	292	0.0034	20	c.133 others(39): Show c.1337-4727_1337-4708dupTTCAGGCTTGAAGTGCCTTC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	8/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107324215	A A	ATATGTAT others(13): Show ATATGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 NA19043.hp2 HG02258.hp2 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020	a0001c0001t0002g0231 a0001c0001t0004g0093 a0001c0001t0020g0157 a0001c0001t0002g0231 a0001c0001t0004g0093 a0001c0001t0020g0157	3	292	0.0103	20	c.576 others(37): Show c.576-2088_576-2087insCACACATATATATATACATA		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333992	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03540.hp2 HG02280.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0180 a0001c0001t0001g0245 a0001c0001t0001g0035 a0001c0001t0001g0180 a0001c0001t0001g0245	3	292	0.0103	20	c.575 others(37): Show c.575+2157_575+2158insTTCCTTCCTTCCTTCCTTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01069.hp1 others(14): Show HG00323.hp2 HG00673.hp2 HG01069.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02738.hp2 HG02965.hp1 HG03195.hp1 HG03927.hp1 NA18906.hp1 NA18986.hp1 NA18987.hp2 NA19010.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0196 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0277 a0001c0001t0002g0095 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0153 a0001c0001t0005g0067 a0001c0001t0005g0098 a0001c0001t0005g0249 a0001c0001t0005g0266 a0001c0001t0008g0236 a0001c0001t0026g0094	17	292	0.0582	20	c.575 others(37): Show c.575+2134_575+2153dupTTCCTTCCTTCCTTCCTTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18985.hp1 HG03139.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0182 a0001c0001t0002g0003 a0001c0001t0002g0182	2	292	0.0069	20	c.575 others(37): Show c.575+2153_575+2154insTTCCTTCCTTCCTTCCCTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6559230	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG02056.hp2 others(2): Show HG01109.hp1 HG01943.hp2 HG02056.hp2 NA18978.hp1 NA19082.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0008c0024 a0001c0002 a0001c0003 a0008c0024	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0025 a0008c0024t0001	a0001c0002t0001g0222 a0001c0002t0003g0169 a0001c0003t0001g0082 others(2): Show a0001c0002t0001g0222 a0001c0002t0003g0169 a0001c0003t0001g0082 a0001c0003t0025g0166 a0008c0024t0001g0076	5	336	0.0149	20	c.288 others(37): Show c.288+3397_288+3416dupGTGTGTGTGTGTGTGTGTGT		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0246 a0001c0023t0006g0246	1	336	0.0030	20	c.288 others(33): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAA		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8						chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856198	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0072 a0001c0003t0006g0072	1	424	0.0024	20	c.824 others(37): Show c.824-2412_824-2411insATATATATATATATATATAT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0068 a0001c0003t0006g0068	1	424	0.0024	20	c.824 others(37): Show c.824-2416_824-2415insATATATATATATATATATCT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02258.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0078 a0001c0003t0004g0079 a0001c0003t0004g0078 a0001c0003t0004g0079	2	424	0.0047	20	c.824 others(37): Show c.824-2435_824-2416dupATATATATATATATATATAT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856394	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp1 HG02896.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0263 a0001c0001t0005g0268 a0001c0001t0001g0263 a0001c0001t0005g0268	2	424	0.0047	20	c.824 others(37): Show c.824-2627_824-2608dupAAAAAAAAAAAAAAAAAAAA		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL5_chr11_101885674_101921522	101889124	T T	TAAGAAAG others(13): Show TAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01346.hp2 others(11): Show HG00099.hp2 HG00423.hp2 HG01346.hp2 HG01358.hp2 HG02109.hp1 HG03490.hp1 HG03942.hp2 NA18946.hp2 NA18947.hp2 NA18957.hp1 NA18981.hp1 NA19000.hp1 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0050 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0266 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0168 a0001c0001t0003g0024 a0001c0001t0003g0082	14	422	0.0332	20	c.21 others(31): Show c.2154_*2155insTCTTTCTTTCTTTCTTTCTT		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1549		chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101889350	A A	AGAGAAAG others(13): Show AGAGAAAGAAAGAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	422	0.0024	20	c.19 others(31): Show c.1928_*1929insCTCTTTCTTCTTTCTTTCTC		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1323		chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10099533	T T	TGCCACTG others(13): Show TGCCACTGCACTCTAGCCTGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	462	0.0022	20	c.-10 others(37): Show c.-10-2980_-10-2961dupCCAGGCTAGAGTGCAGTGGC		ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	1/5						chr19	TogoVar
ANK1_chr8_41648225_41802622	41683031	C C	CACGGACA others(13): Show CACGGACACACACACACATGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02559.hp1 HG02572.hp2 others(12): Show HG02074.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 NA18522.hp2 NA18950.hp2 NA19010.hp1 NA19068.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0006 a0001c0028 a0003c0015 others(4): Show a0001c0006 a0001c0028 a0003c0015 a0004c0011 a0004c0020 a0004c0044 a0007c0033	a0001c0006t0001 a0001c0028t0003 a0003c0015t0003 others(5): Show a0001c0006t0001 a0001c0028t0003 a0003c0015t0003 a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 a0004c0044t0004 a0007c0033t0001	a0001c0006t0001g0100 a0001c0028t0003g0053 a0003c0015t0003g0137 others(12): Show a0001c0006t0001g0100 a0001c0028t0003g0053 a0003c0015t0003g0137 a0003c0015t0003g0220 a0003c0015t0003g0250 a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 a0004c0011t0002g0096 a0004c0011t0002g0097 a0004c0020t0001g0033 a0004c0020t0001g0034 a0004c0020t0001g0036 a0004c0044t0004g0041 a0007c0033t0001g0108	15	278	0.0540	20	c.453 others(39): Show c.4537+1493_4537+1512dupACATGTGTGTGTGTGTCCGT		ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	37/42						chr8	TogoVar
ANK1_chr8_41648225_41802622	41703422	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	278	0.0036	20	c.229 others(37): Show c.2295+599_2295+618dupTATATATATATATATATATA		ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42						chr8	TogoVar
ANK1_chr8_41648225_41802622	41717010	G G	GTGCCCGG others(13): Show GTGCCCGGCTCTGGCTGCCAT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0002 a0015c0053t0002	a0015c0053t0002g0263 a0015c0053t0002g0263	1	278	0.0036	20	c.132 others(29): Show c.1327_1346dupATGGCAGCCAGAGCCGGGCA	p.His others(5): Show p.His449fs	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	13/43	1430/8292	1346/5643	449/1880			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18992.hp2 NA18980.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0130 a0001c0001t0001g0044 a0001c0001t0001g0130	2	178	0.0112	20	c.85- others(37): Show c.85-24535_85-24516dupAAAAAAAAAAAAAAAAAAAA		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar

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