Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
ACR_chr22_50733204_50750339	50748491	GGTGTGCC others(43): Show GGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG01884.hp2 others(11): Show HG01255.hp1 HG01361.hp1 HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0003c0003t0001g0010 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0003c0003t0001g0010 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0083	14	464	0.0302	-50	c.32 others(61): Show c.3285_*3334delGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCA CCTAGACATCCGAGGA	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3153		chr22	TogoVar
ACR_chr22_50733204_50750339	50748599	TCACCTAG others(43): Show TCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGTGTGC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02809.hp1 others(4): Show HG01891.hp2 HG02451.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0141	7	464	0.0151	-50	c.33 others(61): Show c.3393_*3442delCACCTAGACATCCGAGGGGTGTGCCCACCTAGAC AACCGAGGAGTGTGCC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3261		chr22	TogoVar
ACTG2_chr2_73888008_73924865	73901537	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTG C	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20300.hp1 NA18960.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0259 a0001c0002t0002g0128 a0001c0001t0003g0259 a0001c0002t0002g0128	2	416	0.0048	-50	c.126 others(65): Show c.126+119_126+168delGTGTGTGTGTGTGTGTGTGTGTGTGTCTGT GCGTGTGTGTGTGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTN4_chr19_38642649_38736589	38673508	AATATATA others(43): Show AATATATATTTATATATATTCATATATACTTATATATATTTATATATACT T	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0013 a0001c0004t0005 a0001c0004t0013	a0001c0004t0005g0229 a0001c0004t0013g0228 a0001c0004t0005g0229 a0001c0004t0013g0228	2	314	0.0064	-50	c.162 others(69): Show c.162+25629_162+25678delCTTATATATATTTATATATACTTATA TATATTTATATATATTCATATATA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770632	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAGATA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG01891.hp2 others(10): Show HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0006 a0001c0001t0002g0030	13	418	0.0311	-50	c.-11 others(61): Show c.-1162_-1113delATATCTAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1072		chr3	TogoVar
ACVR1_chr2_157731446_157881330	157777867	TTTACCCC others(43): Show TTTACCCCTCAGAGAAAAGTAACTAACTACCAACACTACTAAAATAAATC C	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	174	0.0058	-50	c.543 others(65): Show c.543+214_543+263delGGATTTATTTTAGTAGTGTTGGTAGTTAGT TACTTTTCTCTGAGGGGTAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	5/10			chr2	TogoVar
ADAMTS12_chr5_33518535_33896990	33849174	AATATATA others(43): Show AATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAA T	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	224	0.0045	-50	c.489 others(69): Show c.489+31895_489+31944delATTGCTATGCAATACATATATATATA TTGCTATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470136	ATATATAT others(43): Show ATATATATATATATATGTGTATATATATATATATATATATATATATGTGT G	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18939.hp2 HG01978.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0311 a0001c0001t0004g0061 a0001c0001t0001g0311 a0001c0001t0004g0061	2	398	0.0050	-50	c.172 others(67): Show c.1720+713_1721-719delGTGTATATATATATATATATATATATAT ATGTGTGTATATATATATATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100208110	AAGCCTCA others(43): Show AAGCCTCACCTGGTACACAGTAGGCTCTTCCAGGTCTGTCAGGAACCCAG G	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG02698.hp1 HG03017.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0016 a0002c0001 a0006c0016	a0002c0001t0002 a0006c0016t0059 a0002c0001t0002 a0006c0016t0059	a0002c0001t0002g0174 a0006c0016t0059g0096 a0002c0001t0002g0174 a0006c0016t0059g0096	2	228	0.0088	-50	c.107 others(69): Show c.1076-8737_1076-8688delCCTGGGTTCCTGACAGACCTGGAAGA GCCTACTGTGTACCAGGTGAGGCT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179214068	AAACTCAA others(43): Show AAACTCAAAAGCCGTGCCCACAGTCACCATTACTGAGACACATTAGGACA C	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0007 a0004c0039t0007	a0004c0039t0007g0208 a0004c0039t0007g0208	1	276	0.0036	-50	c.689 others(67): Show c.689-6403_689-6354delGTGTCCTAATGTGTCTCAGTAATGGTGA CTGTGGGCACGGCTTTTGAGTT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179214185	TCACAGTC others(43): Show TCACAGTCACCATTACTGAGACACATTAGGACACAACTCAAAAATCGTGC C	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01099.hp1 others(23): Show HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01978.hp1 HG02083.hp2 HG02109.hp2 HG02622.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0018 a0032	a0001c0001 a0001c0004 a0001c0049 others(17): Show a0001c0001 a0001c0004 a0001c0049 a0002c0002 a0002c0017 a0002c0028 a0002c0029 a0002c0031 a0002c0063 a0003c0003 a0003c0098 a0004c0006 a0004c0016 a0005c0073 a0007c0005 a0010c0078 a0010c0079 a0013c0037 a0018c0032 a0032c0045	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0049t0004 a0002c0002t0001 a0002c0017t0001 a0002c0028t0002 a0002c0029t0014 a0002c0031t0004 a0002c0063t0004 a0003c0003t0001 a0003c0098t0004 a0004c0006t0001 a0004c0016t0002 a0005c0073t0003 a0007c0005t0003 a0010c0078t0001 a0010c0079t0011 a0013c0037t0001 a0018c0032t0001 a0032c0045t0003	a0001c0001t0002g0036 a0001c0001t0004g0111 a0001c0004t0002g0005 others(23): Show a0001c0001t0002g0036 a0001c0001t0004g0111 a0001c0004t0002g0005 a0001c0004t0002g0179 a0001c0049t0004g0149 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0017t0001g0189 a0002c0028t0002g0110 a0002c0029t0014g0020 a0002c0031t0004g0051 a0002c0063t0004g0058 a0003c0003t0001g0232 a0003c0098t0004g0272 a0004c0006t0001g0233 a0004c0006t0001g0234 a0004c0016t0002g0220 a0005c0073t0003g0142 a0007c0005t0003g0263 a0010c0078t0001g0017 a0010c0079t0011g0018 a0013c0037t0001g0048 a0013c0037t0001g0130 a0018c0032t0001g0088 a0018c0032t0001g0089 a0032c0045t0003g0171	26	276	0.0942	-50	c.689 others(67): Show c.689-6520_689-6471delGGCACGATTTTTGAGTTGTGTCCTAATG TGTCTCAGTAATGGTGACTGTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277952	ACCCCCTC others(43): Show ACCCCCTCCAAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACC C	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0184 a0006c0011t0003g0184	1	276	0.0036	-50	c.535 others(67): Show c.535-4938_535-4889delGGGTCAGCCTTTGGTCTCGGGGGGGGGT CAGCCTTTGGTCTTGGAGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78774029	CCAGGAGG others(43): Show CCAGGAGGGACCCAGGAGAGAACCTGGGGCCCGCCATGGCCCGAGGAGGA T	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0001 a0022c0020t0001	a0022c0020t0001g0020 a0022c0020t0001g0353 a0022c0020t0001g0020 a0022c0020t0001g0353	3	380	0.0079	-50	c.201 others(66): Show c.2010+88_2010+137delATCCTCCTCGGGCCATGGCGGGCCCCAGG TTCTCTCCTGGGTCCCTCCTG	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	13/23			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1327694	TCGTCACA others(43): Show TCGTCACAGTTTAGTGCCTACCCACAGTTCAGCACCTCCCACGGCACAGC G	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG02083.hp1 others(2): Show HG00408.hp2 HG00438.hp1 HG02083.hp1 HG02622.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0001 a0001c0001t0023 a0002c0002t0007 others(2): Show a0001c0001t0001 a0001c0001t0023 a0002c0002t0007 a0002c0002t0008 a0002c0016t0006	a0001c0001t0001g0069 a0001c0001t0023g0023 a0002c0002t0007g0001 others(2): Show a0001c0001t0001g0069 a0001c0001t0023g0023 a0002c0002t0007g0001 a0002c0002t0008g0058 a0002c0016t0006g0010	5	106	0.0472	-50	c.107 others(71): Show c.1077+35284_1077+35333delCGCTGTGCCGTGGGAGGTGCTGAA CTGTGGGTAGGCACTAAACTGTGACG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADCY3_chr2_24814169_24925237	24817542	GTGAGATT others(43): Show GTGAGATTGAATGTCAGTGATCCAGGCTCCGATTCCCCCAGCTGCACTGA A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0202 a0002c0001t0001g0202	1	272	0.0037	-50	c.23 others(61): Show c.2340_*2389delTTCAGTGCAGCTGGGGGAATCGGAGCCTGGATCA CTGACATTCAATCTCA	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding		1626		chr2	TogoVar
ADCY9_chr16_3957653_4121442	4116592	GGCGGGGC others(43): Show GGCGGGGCGGGGCGGGGCGCGCGCTCGGCTCCGCCCCCCGCCCCGGGCGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03453.hp1 NA19240.hp1 HG03130.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0037 a0001c0002t0040 a0001c0002t0004 a0001c0002t0037 a0001c0002t0040	a0001c0002t0004g0211 a0001c0002t0037g0210 a0001c0002t0040g0215 a0001c0002t0004g0211 a0001c0002t0037g0210 a0001c0002t0040g0215	3	320	0.0094	-50	c.-99 others(59): Show c.-996_-947delGCCGCCCGGGGCGGGGGGCGGAGCCGAGCGCGCGCC CCGCCCCGCCCCGC	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding		151		chr16	TogoVar
ADGRA1_chr10_133082924_133136675	133129623	TTCACACC others(43): Show TTCACACCCCTGCCCCTTCCTTGTGATCACACCCCTGCCCCTTCCTTGTG A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(46): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02083.hp1 HG02273.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19030.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0017 a0001c0018 a0001c0019 a0001c0023	a0001c0001t0024 a0001c0001t0048 a0001c0001t0049 others(17): Show a0001c0001t0024 a0001c0001t0048 a0001c0001t0049 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0041 a0001c0003t0042 a0001c0003t0073 a0001c0003t0074 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0004t0047 a0001c0004t0056 a0001c0009t0004 a0001c0017t0015 a0001c0018t0004 a0001c0019t0004 a0001c0023t0009	a0001c0001t0024g0044 a0001c0001t0024g0075 a0001c0001t0024g0115 others(41): Show a0001c0001t0024g0044 a0001c0001t0024g0075 a0001c0001t0024g0115 a0001c0001t0048g0284 a0001c0001t0049g0269 a0001c0003t0004g0001 a0001c0003t0004g0008 a0001c0003t0004g0170 a0001c0003t0004g0203 a0001c0003t0004g0205 a0001c0003t0004g0220 a0001c0003t0004g0228 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0003t0004g0236 a0001c0003t0004g0238 a0001c0003t0004g0240 a0001c0003t0004g0244 a0001c0003t0009g0242 a0001c0003t0009g0295 a0001c0003t0009g0299 a0001c0003t0009g0341 a0001c0003t0009g0344 a0001c0003t0015g0059 a0001c0003t0015g0064 a0001c0003t0015g0068 a0001c0003t0041g0026 a0001c0003t0042g0029 a0001c0003t0073g0234 a0001c0003t0074g0085 a0001c0004t0004g0007 a0001c0004t0004g0119 a0001c0004t0004g0148 a0001c0004t0004g0193 a0001c0004t0009g0281 a0001c0004t0009g0305 a0001c0004t0015g0142 a0001c0004t0047g0304 a0001c0004t0056g0312 a0001c0009t0004g0004 a0001c0017t0015g0041 a0001c0018t0004g0237 a0001c0019t0004g0225 a0001c0023t0009g0297	49	368	0.1332	-50	c.16 others(59): Show c.163_*212delTCACACCCCTGCCCCTTCCTTGTGATCACACCCCTG CCCCTTCCTTGTGA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	163	INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68661357	GTGTGTGT others(43): Show GTGTGTGTATATATATGTGTATACATATATATATGTGTGTATACATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	120	0.0083	-50	c.757 others(69): Show c.757+21933_757+21982delATATATATGTGTATACATATATATAT GTGTGTATACATATATATGTGTGT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661409	GTGTGTGT others(43): Show GTGTGTGTATATATATGTGTATACATATATATATGTGTGTATACATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03490.hp1 homoSapiens_chm13v2.hp1 HG01074.hp1 HG03490.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0001c0001t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0007 a0001c0003t0001g0008 a0002c0005t0001g0021 a0001c0001t0001g0007 a0001c0003t0001g0008 a0002c0005t0001g0021	3	120	0.0250	-50	c.757 others(69): Show c.757+22038_757+22087delTATATGTGTATACATATATATATGTG TGTATACATATATATGTGTGTATA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661502	CATATATA others(43): Show CATATATATGTGTGTATACATATATATATGTGTATACATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	120	0.0083	-50	c.757 others(69): Show c.757+22079_757+22128delGTGTGTATACATATATATATGTGTAT ACATATATATATATATATATATAT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADORA2B_chr17_15940130_15980746	15979621	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGAGGACTGA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02895.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02895.hp1 HG03516.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0005 a0002c0007t0003 a0002c0002t0003 a0002c0002t0005 a0002c0007t0003	a0002c0002t0003g0056 a0002c0002t0003g0063 a0002c0002t0005g0156 others(2): Show a0002c0002t0003g0056 a0002c0002t0003g0063 a0002c0002t0005g0156 a0002c0002t0005g0218 a0002c0007t0003g0042	5	346	0.0145	-50	c.42 others(61): Show c.4280_*4329delCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCGGAGGACTGAC	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		3876		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15979643	CGGGGCGG others(43): Show CGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01168.hp2 others(4): Show HG01106.hp2 HG01123.hp1 HG01168.hp2 HG02148.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0146 a0002c0002t0003g0151 a0002c0002t0003g0153 others(4): Show a0002c0002t0003g0146 a0002c0002t0003g0151 a0002c0002t0003g0153 a0002c0002t0003g0181 a0002c0002t0003g0255 a0002c0002t0003g0277 a0002c0002t0007g0278	7	346	0.0202	-50	c.43 others(61): Show c.4302_*4351delGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCC CACCTCCCTCCCGAAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		3898		chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113421316	CACCCCGG others(43): Show CACCCCGGGACACGCCCACCCCCGGGACACGCCCACTCCCGGGACACCTC T	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0041 a0019c0028t0041	a0019c0028t0041g0260 a0019c0028t0041g0260	1	262	0.0038	-50	c.106 others(69): Show c.1061+1460_1061+1509delAGAGGTGTCCCGGGAGTGGGCGTGTC CCGGGGGTGGGCGTGTCCCGGGGT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFF1_chr4_86930011_87146039	87022554	ATATATAT others(43): Show ATATATATATATATATATATATATATATATCTATCTATATCTATCTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03130.hp1 HG02145.hp2 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237 a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237	3	294	0.0102	-50	c.39- others(67): Show c.39-23602_39-23553delATATATATATATATATATATCTATCTAT ATCTATCTGTGTGTATATATAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGAP1_chr2_235489043_236136793	235573004	TTCTTCTT others(43): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0015 a0001c0011t0036 a0001c0009t0015 a0001c0011t0036	a0001c0009t0015g0038 a0001c0011t0036g0009 a0001c0009t0015g0038 a0001c0011t0036g0009	2	98	0.0204	-50	c.163 others(69): Show c.163+78157_163+78206delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86827320	CACACATA others(43): Show CACACATATATATATATATGTGTATATATATATATATATATATGTGTGTG T	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	132	0.0076	-50	c.315 others(71): Show c.3159-79765_3159-79716delCACATATATATATATATGTGTATA TATATATATATATATATGTGTGTGTA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	48732502	ATGCAGAG others(43): Show ATGCAGAGACTTGGAGTAGGGTGATGTGACAGACAGCAATGGAGAGGCTA C	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0088 a0002c0003t0008g0088	1	104	0.0096	-50	c.635 others(69): Show c.635-69311_635-69262delGTAGCCTCTCCATTGCTGTCTGTCAC ATCACCCTACTCCAAGTCTCTGCA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGGF1_chr5_77025404_77070234	77043632	ACCCCCCA others(43): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAT C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	438	0.0023	-50	c.871 others(67): Show c.871-2694_871-2645delTGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCCCACCTCCCTCCCGGA	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15198224	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAG T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	236	0.0042	-50	c.30 others(61): Show c.3011_*3060delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2092		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354404	GTACACAC others(43): Show GTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGTGT A	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	236	0.0042	-50	c.126 others(71): Show c.1263+11060_1263+11109delTACACACACGTGTGTATACACACA CGTGTGTGTATACACACACGTGTGTA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530260	GATATTCT others(43): Show GATATTCTATATACGTATTTCCATATATATTCTATATACGTATTTCCATA T	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03486.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0004 a0001c0005t0003 a0001c0005t0004	a0001c0005t0003g0001 a0001c0005t0004g0002 a0001c0005t0003g0001 a0001c0005t0004g0002	2	236	0.0085	-50	c.409 others(69): Show c.409+14462_409+14511delATATGGAAATACGTATATAGAATATA TATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	345332	GGGGATGT others(43): Show GGGGATGTGTGTGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGG A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03225.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG03225.hp1 NA20129.hp2	a0004 a0016 a0004 a0016	a0004c0003 a0016c0012 a0004c0003 a0016c0012	a0004c0003t0014 a0004c0003t0034 a0016c0012t0020 a0004c0003t0014 a0004c0003t0034 a0016c0012t0020	a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0034g0229 others(1): Show a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0034g0229 a0016c0012t0020g0239	4	268	0.0149	-50	c.62+ others(65): Show c.62+1369_62+1418delGGGATGTGTGTGTGTGTGTGTCGGATGATG TCCCTGGCTGTGTGTGGGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
AK5_chr1_77277019_77564966	77444335	ATATATAC others(43): Show ATATATACACAATATATGTGTATATATAGTATAAATATATACTATATATA G	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	284	0.0035	-50	c.105 others(71): Show c.1059+26627_1059+26676delCACAATATATGTGTATATATAGTA TAAATATATACTATATATAGTATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP6_chr14_32324298_32842684	32510412	ATGTATAT others(43): Show ATGTATATATATACATATATATATGTGTATATATATATACATATATATGT G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02895.hp1 others(1): Show HG01884.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0002 a0004c0007 a0001c0006 a0002c0002 a0004c0007	a0001c0006t0010 a0002c0002t0003 a0004c0007t0010 a0001c0006t0010 a0002c0002t0003 a0004c0007t0010	a0001c0006t0010g0144 a0002c0002t0003g0152 a0004c0007t0010g0132 others(1): Show a0001c0006t0010g0144 a0002c0002t0003g0152 a0004c0007t0010g0132 a0004c0007t0010g0133	4	154	0.0260	-50	c.325 others(69): Show c.325-25140_325-25091delGTATATATATACATATATATATGTGT ATATATATATACATATATATGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKIRIN2_chr6_87669860_87707233	87698268	AACTTTTT others(43): Show AACTTTTTCTGTAAACACCAGAGAGCAAATATGGAGTTTTCGGGGCAATA T	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	406	0.0025	-50	c.235 others(67): Show c.235+3132_235+3181delATATTGCCCCGAAAACTCCATATTTGCT CTCTGGTGTTTACAGAAAAAGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	1/4			chr6	TogoVar
AKT2_chr19_40225317_40290345	40248795	GAGGAGAT others(43): Show GAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGACAGAGAGGAGTG C	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	360	0.0028	-50	c.288 others(67): Show c.288-6158_288-6109delGCACTCCTCTCTGTCCTCATCTCCTCCA CTCCTCCCTGTCCTCATCTCCT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/13			chr19	TogoVar
ALDH5A1_chr6_24489969_24542207	24541297	CTGTGCCT others(43): Show CTGTGCCTGCGTGCCCCAGATGTCTCTCTGCAGGTCCTAATCTCTTCTTC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	368	0.0027	-50	c.75 others(61): Show c.7586_*7635delTGTGCCTGCGTGCCCCAGATGTCTCTCTGCAGGT CCTAATCTCTTCTTCT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding		4091		chr6	TogoVar
ALG6_chr1_63362627_63443553	63400233	ATATATAT others(43): Show ATATATATATACGTATATATATGTATATATATATACGTATATATATATAC G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0319 a0002c0002t0001g0319	1	388	0.0026	-50	c.168 others(67): Show c.168-2010_168-1961delCGTATATATATGTATATATATATACGTA TATATATATACGTATATATATA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63400271	ATATATAT others(43): Show ATATATATATACGTATATATATATACGTATATATATGTATATATATATAC G	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp2 HG03669.hp1 others(4): Show HG02280.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 NA18906.hp1 NA19004.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0232 a0002c0002t0001g0233 others(4): Show a0002c0002t0001g0180 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0328 a0002c0002t0001g0330 a0002c0002t0001g0336 a0002c0002t0001g0337	7	388	0.0180	-50	c.168 others(67): Show c.168-1972_168-1923delCGTATATATATATACGTATATATATGTA TATATATATACGTATATATATA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALK_chr2_29187774_29926586	29802374	GAGGGGAG others(43): Show GAGGGGAGGGGAGGGGAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGG C	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0057 a0008c0057	a0008c0057t0002 a0008c0057t0002	a0008c0057t0002g0023 a0008c0057t0002g0023	1	80	0.0125	-50	c.668 others(69): Show c.668-84727_668-84678delGCCCTCCCCTCCCCTCCCCTCCCCTC CCCTGCCCTCCCCTCCCCTCCCCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107948	AGAAAGAA others(43): Show AGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAA G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG00558.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0292 a0001c0002t0001g0329 a0001c0001t0002g0292 a0001c0002t0001g0329	2	422	0.0047	-50	c.168 others(67): Show c.1684+470_1684+519delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCCTTTCTTTCTTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPP_chr2_232373751_232387889	232379332	CTTAGAGT others(43): Show CTTAGAGTCCTCCAAGCACAGAAGGGGAATCCTGGCTATGGAGTGTGGTA G	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0001 a0023c0033t0001	a0023c0033t0001g0026 a0023c0033t0001g0026	1	410	0.0024	-50	c.309 others(63): Show c.309+18_309+67delTTAGAGTCCTCCAAGCACAGAAGGGGAATCCT GGCTATGGAGTGTGGTAG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	3/10			chr2	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	GTATTCCT others(43): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01516.hp1 others(11): Show HG00099.hp1 HG00642.hp1 HG01516.hp1 HG01517.hp2 HG02622.hp1 HG03688.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18964.hp1 NA18984.hp2 NA19030.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0138 others(11): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0248 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0090 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0002g0211 a0001c0001t0004g0286 a0001c0001t0011g0061 a0001c0001t0014g0142	14	292	0.0480	-50	c.298 others(69): Show c.298-21403_298-21354delTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKHD1_chr5_140396833_140544849	140458947	TATATATA others(43): Show TATATATATATATATATATATATATATATATATGCATATATATATATATG C	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01934.hp2 others(18): Show HG00140.hp2 HG00280.hp1 HG01934.hp2 HG01993.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp2 NA18747.hp1 NA18945.hp2 NA18946.hp1 NA18982.hp1 NA18987.hp2 NA19005.hp2 NA19043.hp2 NA19067.hp2 NA20129.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0007c0015 a0011c0008 a0001c0001 a0007c0015 a0011c0008	a0001c0001t0001 a0007c0015t0001 a0011c0008t0001 a0001c0001t0001 a0007c0015t0001 a0011c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0104 a0001c0001t0001g0106 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0218 a0007c0015t0001g0171 a0011c0008t0001g0107	21	322	0.0652	-50	c.148 others(67): Show c.1480+118_1481-135delGCATATATATATATATGCATATATATAT ATATATATATATATATATATAT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE1_chr19_17276901_17292646	17277228	GTCTCCCT others(43): Show GTCTCCCTCTGTCTCCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTCAC T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	406	0.0025	-50	c.-46 others(61): Show c.-4692_-4643delTCTCCCTCTGTCTCCCAGGCTGGAGTGTAGTGGC ATGATCTCGGCTCACT	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding		4672		chr19	TogoVar
ANKRD11_chr16_89262630_89495561	89305719	TCCCACTC others(43): Show TCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGC C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp1 HG02970.hp2 HG03516.hp1 HG06807.hp2	a0001 a0011 a0030 a0001 a0011 a0030	a0001c0006 a0011c0014 a0030c0053 a0001c0006 a0011c0014 a0030c0053	a0001c0006t0001 a0001c0006t0003 a0011c0014t0003 others(1): Show a0001c0006t0001 a0001c0006t0003 a0011c0014t0003 a0030c0053t0001	a0001c0006t0001g0225 a0001c0006t0003g0001 a0001c0006t0003g0026 others(5): Show a0001c0006t0001g0225 a0001c0006t0003g0001 a0001c0006t0003g0026 a0001c0006t0003g0163 a0001c0006t0003g0175 a0011c0014t0003g0089 a0011c0014t0003g0271 a0030c0053t0001g0138	8	310	0.0258	-50	c.88- others(63): Show c.88-425_88-376delGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGGC GCGTGTCTGCGGAGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306437	CCTCCCAC others(43): Show CCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCAGACACGC G	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0044 a0003c0008t0003g0044	1	310	0.0032	-50	c.88- others(65): Show c.88-1143_88-1094delCGCGTGTCTGCGGAGTGGGAGGTGGGTGGC GCGTGTCTGCGGAGTGGGAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD31_chr5_75063297_75241878	75206228	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0010 a0024 a0010 a0024	a0010c0012 a0024c0028 a0010c0012 a0024c0028	a0010c0012t0001 a0024c0028t0001 a0010c0012t0001 a0024c0028t0001	a0010c0012t0001g0103 a0024c0028t0001g0098 a0010c0012t0001g0103 a0024c0028t0001g0098	2	334	0.0060	-50	c.403 others(65): Show c.403+133_403+182delATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206230	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp2 HG02970.hp1 NA19043.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0101 a0010c0012t0001g0138 a0010c0012t0001g0101 a0010c0012t0001g0138	2	334	0.0060	-50	c.403 others(65): Show c.403+131_403+180delATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206232	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	334	0.0030	-50	c.403 others(65): Show c.403+129_403+178delATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar

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