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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	298	0.0034	37	c.236 others(56): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21						chr2	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GCCCCCCA others(30): Show GCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0081 a0002c0081	a0002c0081t0013 a0002c0081t0013	a0002c0081t0013g0277 a0002c0081t0013g0277	1	318	0.0031	37	c.422 others(52): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGG		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0196 a0004c0005t0003g0196	1	350	0.0029	37	c.331 others(56): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38						chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	326	0.0031	37	c.393 others(54): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT ATATATATA		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38						chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958506	A A	ATAATATA others(30): Show ATAATATATATAATATATAATATAATTATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(91): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03239.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0016 a0021 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0044 a0001c0048 a0002c0006 a0003c0007 a0006c0052 a0016c0018 a0021c0036 a0025c0045 a0026c0043 a0027c0037 a0028c0054	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0044t0001 a0001c0048t0001 a0002c0006t0001 a0003c0007t0001 a0006c0052t0001 a0016c0018t0001 a0021c0036t0001 a0025c0045t0001 a0026c0043t0001 a0027c0037t0001 a0028c0054t0001	a0001c0001t0001g0028 a0001c0001t0001g0157 a0001c0001t0001g0160 others(91): Show a0001c0001t0001g0028 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0221 a0001c0001t0002g0264 a0001c0002t0001g0088 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0203 a0001c0002t0001g0220 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0006g0231 a0001c0004t0001g0181 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0206 a0001c0004t0001g0210 a0001c0004t0001g0214 a0001c0004t0001g0241 a0001c0004t0001g0246 a0001c0044t0001g0212 a0001c0048t0001g0167 a0002c0006t0001g0166 a0002c0006t0001g0201 a0003c0007t0001g0163 a0003c0007t0001g0189 a0003c0007t0001g0252 a0003c0007t0001g0257 a0003c0007t0001g0263 a0003c0007t0001g0266 a0003c0007t0001g0267 a0006c0052t0001g0204 a0016c0018t0001g0235 a0021c0036t0001g0158 a0025c0045t0001g0273 a0026c0043t0001g0261 a0027c0037t0001g0159 a0028c0054t0001g0223	94	274	0.3431	37	c.-34 others(48): Show c.-3455_-3454insATTATATATATAATTATATTATATATTATATATA TTA		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding					3115		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958506	A A	ATAATATA others(30): Show ATAATATATATAATATATTATATAATTATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	274	0.0037	37	c.-34 others(48): Show c.-3455_-3454insATTATATATATAATTATATAATATATTATATATA TTA		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding					3115		chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975137	A A	ATATTTAT others(30): Show ATATTTATAGATAAATATATAATAAATATTTTTATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03209.hp2 HG01074.hp1 HG03209.hp2	a0002 a0002	a0002c0020 a0002c0033 a0002c0020 a0002c0033	a0002c0020t0037 a0002c0033t0008 a0002c0020t0037 a0002c0033t0008	a0002c0020t0037g0026 a0002c0033t0008g0102 a0002c0020t0037g0026 a0002c0033t0008g0102	2	306	0.0065	37	c.130 others(56): Show c.1309-1334_1309-1298dupAATATAAAAATATTTATTATATATTT ATCTATAAATA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCG1_chr21_42214140_42302244	42292961	C C	CTACACAC others(30): Show CTACACACCACACACTACACACACACCACACTACACAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02738.hp1 HG03688.hp2 HG02602.hp2 HG02738.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0013g0296 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0013g0296	3	354	0.0085	37	c.165 others(56): Show c.1653+1342_1653+1378dupGTACACACCACACACTACACACACAC CACACTACACA		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABHD12B_chr14_50867053_50909970	50870937	A A	AAGAAAGA others(30): Show AAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	376	0.0027	37	c.-12 others(48): Show c.-1238_-1237insAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA AAG		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1115		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAGAGAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0060 a0002c0004t0002g0060	1	376	0.0027	37	c.-11 others(48): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAGAAGAAAGAAAGAAA GAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0193 a0002c0006t0002g0193	1	316	0.0032	37	c.422 others(52): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATATATA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD16A_chr6_31681955_31708324	31687701	C C	CACCAGTC others(30): Show CACCAGTCCTCTTCCACCTCCCATACACAAGAAAACAT	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0105 a0004c0008t0002g0105	1	417	0.0024	37	c.148 others(46): Show c.1486_1487insATGTTTTCTTGTGTATGGGAGGTGGAAGAGGACTGG T	p.Cys others(5): Show p.Cys496fs	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	18/20	1529/1977	1486/1677	496/558			chr6	TogoVar
ABI1_chr10_26741596_26865958	26818631	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	358	0.0028	37	c.285 others(54): Show c.285+4506_285+4507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10						chr10	TogoVar
ABTB3_chr12_107313434_107664642	107426002	T T	TGCATTTC others(30): Show TGCATTTCTAGCACGGGCTTCCTGGCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	186	0.0054	37	c.113 others(58): Show c.1136-94484_1136-94448dupGCATTTCTAGCACGGGCTTCCTGG CCTCCCTCCCTCC		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49799835	A A	ATCCGGGA others(30): Show ATCCGGGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(34): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp1 HG01934.hp2 HG02040.hp2 HG02074.hp2 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03239.hp2 NA18612.hp2 NA18944.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18984.hp1 NA18985.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 a0001c0001t0001 a0001c0001t0012 a0001c0001t0029	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0030 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0012g0020 a0001c0001t0012g0151 a0001c0001t0029g0152	37	434	0.0853	37	c.184 others(54): Show c.184-2242_184-2241insCGGGGCGGCGGGGCAGAGGCGCTCCCCA CATCCCGGA		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCACCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0229 a0001c0001t0022g0229	1	434	0.0023	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACGGGGTGGCGGGGCAG AGGCGCTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCAGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01943.hp1 others(3): Show HG01192.hp1 HG01257.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0005 a0001c0001t0002g0027	6	434	0.0138	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACTGGGCGGCGGGGCAG AGGCGCTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(330): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0037 a0003c0004t0010 a0004c0005t0008 a0005c0007t0009 a0006c0008t0002	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(271): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0200 a0001c0001t0003g0258 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0044 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0260 a0001c0001t0005g0271 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0323 a0001c0001t0006g0011 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0211 a0001c0001t0006g0214 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0237 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0339 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0191 a0001c0001t0007g0213 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0007g0272 a0001c0001t0007g0290 a0001c0001t0007g0315 a0001c0001t0008g0215 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0224 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0008g0233 a0001c0001t0008g0236 a0001c0001t0008g0241 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0009g0016 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0056 a0001c0001t0009g0066 a0001c0001t0010g0010 a0001c0001t0010g0208 a0001c0001t0011g0164 a0001c0001t0011g0166 a0001c0001t0011g0168 a0001c0001t0011g0244 a0001c0001t0011g0251 a0001c0001t0013g0089 a0001c0001t0014g0026 a0001c0001t0014g0065 a0001c0001t0014g0088 a0001c0001t0015g0085 a0001c0001t0015g0207 a0001c0001t0015g0292 a0001c0001t0017g0216 a0001c0001t0017g0225 a0001c0001t0021g0282 a0001c0001t0021g0327 a0001c0001t0023g0340 a0001c0001t0024g0238 a0001c0001t0025g0228 a0001c0001t0030g0124 a0001c0001t0031g0202 a0001c0001t0032g0201 a0001c0001t0033g0276 a0001c0001t0034g0297 a0001c0001t0035g0302 a0001c0001t0036g0287 a0001c0001t0038g0212 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0146 a0001c0003t0001g0158 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0004g0103 a0002c0002t0004g0132 a0002c0002t0004g0138 a0002c0002t0037g0127 a0003c0004t0010g0204 a0003c0004t0010g0205 a0003c0004t0010g0206 a0004c0005t0008g0232 a0005c0007t0009g0073 a0006c0008t0002g0084	333	434	0.7673	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACGGGGCGGCGGGGCAG AGGCGCTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCTGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02622.hp2 others(1): Show HG01884.hp1 HG02559.hp2 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0018 a0001c0001t0019	a0001c0001t0018g0144 a0001c0001t0018g0145 a0001c0001t0019g0142 others(1): Show a0001c0001t0018g0144 a0001c0001t0018g0145 a0001c0001t0019g0142 a0001c0001t0019g0143	4	434	0.0092	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACAGGGCGGCGGGGCAG AGGCGCTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCTGCCGCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	434	0.0023	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACGGGGCGGCAGGGCAG AGGCGCTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGTGC others(30): Show GGGAGTGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02257.hp2 others(5): Show HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp2 HG03130.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 others(1): Show a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028	a0001c0001t0013g0036 a0001c0001t0013g0192 a0001c0001t0016g0017 others(2): Show a0001c0001t0013g0036 a0001c0001t0013g0192 a0001c0001t0016g0017 a0001c0001t0027g0169 a0001c0001t0028g0170	8	434	0.0184	37	c.184 others(54): Show c.184-2254_184-2253insTCACATCCCAGACGGGGCGGCGGGGCAG AGGCACTCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19062.hp2 HG00558.hp1 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0013 a0001c0003t0001 a0001c0003t0013	a0001c0003t0001g0088 a0001c0003t0013g0072 a0001c0003t0001g0088 a0001c0003t0013g0072	2	299	0.0067	37	c.508 others(56): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55						chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00639.hp2 others(5): Show HG00140.hp1 HG00639.hp1 HG00639.hp2 HG01099.hp1 HG01123.hp2 HG03491.hp2 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0165 others(5): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0003t0001g0124	8	299	0.0268	37	c.38+ others(54): Show c.38+15957_38+15958insTATATATATATATATATATAATATATAT ATATATAAA		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55						chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	299	0.0033	37	c.38+ others(54): Show c.38+15957_38+15958insTATATATATATATATATATATAATATAT ATATATAAA		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCCGTGTC others(30): Show CCCGTGTCCCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	37	c.45 others(48): Show c.4528_*4529insACGGAGCAGAGACACGGGGGACGGGGCAGGGACA CGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3355		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	386	0.0026	37	c.73- others(50): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER2_chr9_19404009_19457505	19427652	C C	CTTCTCTT others(30): Show CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02723.hp1 HG01192.hp1 HG02723.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0005 a0003c0004t0004 a0001c0003t0005 a0003c0004t0004	a0001c0003t0005g0307 a0003c0004t0004g0297 a0001c0003t0005g0307 a0003c0004t0004g0297	2	358	0.0056	37	c.365 others(54): Show c.365+2828_365+2829insCTCTTCTCTTCTCTTCTCTTTTCTCTTC TCTTCTCTT		ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
ACMSD_chr2_134833616_134907034	134840193	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	382	0.0026	37	c.57+ others(52): Show c.57+1454_57+1455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACC		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9						chr2	TogoVar
ACOT7_chr1_6259272_6398767	6320959	C C	CAGCGGAA others(30): Show CAGCGGAAGAGGGAACAGTACACCAGCCTACCACCCTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	240	0.0042	37	c.626 others(54): Show c.626-2382_626-2381insAAGGGTGGTAGGCTGGTGTACTGTTCCC TCTTCCGCT		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8						chr1	TogoVar
ACOT9_chrX_23696055_23748276	23696830	T T	TGCCTCTG others(30): Show TGCCTCTGGGCCCAAGCAATTCTCCCACCTCAGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG01891.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0030 a0001c0002t0017 a0001c0002t0030	a0001c0002t0017g0090 a0001c0002t0030g0088 a0001c0002t0017g0090 a0001c0002t0030g0088	2	309	0.0065	37	c.70 others(48): Show c.7063_*7064insGGAGGCTGAGGTGGGAGAATTGCTTGGGCCCAGA GGC		ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding					4224		chrX	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	444	0.0023	37	c.735 others(52): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4						chr19	TogoVar
ACSF3_chr16_89088852_89161233	89147350	G G	GTGAGGGA others(30): Show GTGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	368	0.0027	37	c.161 others(56): Show c.1613+1301_1613+1302insTGAGGGAGGAGGGAGGGTCCACAGAG TGAGTGAGGGA		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10						chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	364	0.0028	37	c.159 others(54): Show c.1593+778_1593+779insTATATATATATATATATATATATATATA TATATATAT		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20						chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	364	0.0028	37	c.159 others(54): Show c.1593+781_1593+782insAAATATATATATATATATATATATATAT ATATATATA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 NA19064.hp1 HG01361.hp1 HG01361.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0202 a0001c0001t0001g0254 a0001c0005t0001g0258 a0001c0001t0001g0202 a0001c0001t0001g0254 a0001c0005t0001g0258	3	364	0.0082	37	c.159 others(54): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT ATATATATA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	364	0.0028	37	c.159 others(54): Show c.1593+780_1593+781insTATATATATATATATATATATATATATA TATATATAT		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20						chr10	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAAAGAA others(30): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	416	0.0024	37	c.40 others(48): Show c.4066_*4067insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAA		ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding					3777		chr2	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(30): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	284	0.0035	37	c.195 others(54): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21						chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATTATA others(30): Show GTATTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	344	0.0029	37	c.876 others(50): Show c.876+83_876+84insTATTATATATATATATATATATATATATATAT ATATA		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20						chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770252	T T	TTTATATA others(30): Show TTTATATAAATATAAAATATTAAAAAATATATAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	37	c.-73 others(46): Show c.-733_-732insTAATTTATATATTTTTTAATATTTTATATTTATATA A		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					692		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770419	T T	TATAAATA others(30): Show TATAAATATAAATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19063.hp1 NA19055.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	418	0.0048	37	c.-90 others(46): Show c.-900_-899insGATATATAAATATAAATTTTTATATATTTATATTTA T		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					859		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770457	A A	ATAAATAT others(30): Show ATAAATATAAATATATAAAAATTTATATTTATATATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	37	c.-93 others(46): Show c.-938_-937insGGATATATAAATATAAATTTTTATATATTTATATTT A		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					897		chr3	TogoVar
ADAM10_chr15_58583809_58754707	58681297	A A	ATTGTAAG others(30): Show ATTGTAAGAGTACAATAACCAAATGTAAGAGTACATTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	342	0.0029	37	c.325 others(52): Show c.325+898_325+899insAAATGTACTCTTACATTTGGTTATTGTACT CTTACAA		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	3/15						chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0062 a0002c0001t0001g0062	1	252	0.0040	37	c.114 others(56): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATTTTTTTTTT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22						chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02922.hp1 HG02523.hp2 HG02922.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0024 a0001c0001t0001 a0006c0007t0024	a0001c0001t0001g0031 a0006c0007t0024g0008 a0001c0001t0001g0031 a0006c0007t0024g0008	2	234	0.0086	37	c.957 others(52): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18						chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(30): Show TCTTCCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01934.hp2 HG03927.hp2 HG01074.hp1 HG01934.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014	a0001c0001t0009g0137 a0001c0001t0013g0116 a0001c0001t0014g0125 a0001c0001t0009g0137 a0001c0001t0013g0116 a0001c0001t0014g0125	3	234	0.0128	37	c.844 others(52): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AGGGAAG		ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18						chr2	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	230	0.0044	37	c.323 others(54): Show c.323+4287_323+4288insTATATATATATATATATATATATATATA TATATATAT		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31						chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	230	0.0044	37	c.324 others(56): Show c.324-36161_324-36160insAAAAAAAAAAAAATATATATATATAT ATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0143	1	230	0.0044	37	c.324 others(56): Show c.324-36161_324-36160insAAAAAAAAAAATATATATATATATAT ATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	230	0.0044	37	c.324 others(56): Show c.324-36161_324-36160insAAAAAAAAATATATATATATATATAT ATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar

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