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 haplotype class

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
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0160 a0001c0001t0029g0160	1	182	0.0055	30	c.98- others(45): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550011	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG01243.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	182	0.0110	30	c.98- others(45): Show c.98-1128_98-1127insCCTTCTCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20300.hp2 HG02572.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0040 a0001c0003t0001g0161 a0001c0001t0002g0040 a0001c0003t0001g0161	2	182	0.0110	30	c.98- others(45): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01074.hp1 others(20): Show HG00423.hp2 HG00639.hp2 HG01074.hp1 HG01168.hp2 HG01952.hp2 HG02056.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA19030.hp2 NA19068.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0010 a0005c0009	a0001c0001t0022 a0001c0001t0023 a0001c0001t0042 others(15): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0042 a0001c0001t0106 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0165 a0001c0002t0055 a0001c0002t0125 a0001c0002t0197 a0001c0002t0211 a0001c0006t0023 a0002c0010t0084 a0005c0009t0183	a0001c0001t0022g0026 a0001c0001t0022g0139 a0001c0001t0023g0028 others(16): Show a0001c0001t0022g0026 a0001c0001t0022g0139 a0001c0001t0023g0028 a0001c0001t0042g0027 a0001c0001t0106g0070 a0001c0001t0120g0084 a0001c0001t0121g0085 a0001c0001t0122g0086 a0001c0001t0123g0087 a0001c0001t0124g0063 a0001c0001t0126g0088 a0001c0001t0165g0125 a0001c0002t0055g0043 a0001c0002t0125g0159 a0001c0002t0197g0192 a0001c0002t0211g0232 a0001c0006t0023g0133 a0002c0010t0084g0164 a0005c0009t0183g0250	23	374	0.0615	30	c.22 others(41): Show c.2254_*2255insATATATATATATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2254		chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(23): Show AATATATATATATATATATATCTATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0179 a0002c0003t0179	a0002c0003t0179g0177 a0002c0003t0179g0177	1	374	0.0027	30	c.22 others(41): Show c.2254_*2255insATATATATAGATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2254		chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161188897	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0163	a0001c0001t0163g0123 a0001c0001t0163g0123	1	374	0.0027	30	c.22 others(41): Show c.2240_*2241insGTATATATATATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2240		chr1	TogoVar
ADAMTS9_chr3_64510654_64693000	64673010	T T	TGTAGCCT others(23): Show TGTAGCCTAGGAACAATAGGCTATGTACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01978.hp2 HG02055.hp1 others(20): Show HG00099.hp2 HG01978.hp2 HG02055.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18953.hp2 NA18957.hp1 NA18995.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19072.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0002 a0003c0003 a0009c0029 a0009c0047	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0002c0002t0003 a0003c0003t0002 a0009c0029t0002 a0009c0047t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(20): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0002g0118 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0004t0001g0061 a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0242 a0001c0004t0001g0257 a0001c0004t0002g0240 a0001c0006t0001g0117 a0001c0007t0001g0017 a0002c0002t0003g0196 a0003c0003t0002g0060 a0009c0029t0002g0237 a0009c0047t0001g0274	23	286	0.0804	30	c.679 others(47): Show c.679+8161_679+8190dupGTGGTACATAGCCTATTGTTCCTAGGCT AC	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/39			chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18994.hp1 HG03195.hp2 NA18994.hp1	a0002 a0025 a0002 a0025	a0002c0001 a0025c0033 a0002c0001 a0025c0033	a0002c0001t0001 a0025c0033t0024 a0002c0001t0001 a0025c0033t0024	a0002c0001t0001g0210 a0025c0033t0024g0165 a0002c0001t0001g0210 a0025c0033t0024g0165	2	218	0.0092	30	c.64- others(45): Show c.64-1407_64-1406insGTATATATATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0211 a0001c0003t0005g0211	1	218	0.0046	30	c.64- others(45): Show c.64-1407_64-1406insGTGTATATATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688687	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0011 a0001c0005t0003g0011	1	218	0.0046	30	c.157 others(49): Show c.1574+3888_1574+3889insTATATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0008 a0006c0073t0008	a0006c0073t0008g0071 a0006c0073t0008g0071	1	218	0.0046	30	c.157 others(49): Show c.1574+3890_1574+3891insAAAAAAAATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0002 a0001c0057t0002	a0001c0057t0002g0001 a0001c0057t0002g0001	1	218	0.0046	30	c.157 others(49): Show c.1574+3890_1574+3891insAAAATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19058.hp2 HG00099.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0011 a0001c0003 a0003c0011	a0001c0003t0029 a0003c0011t0007 a0001c0003t0029 a0003c0011t0007	a0001c0003t0029g0025 a0003c0011t0007g0183 a0001c0003t0029g0025 a0003c0011t0007g0183	2	218	0.0092	30	c.157 others(49): Show c.1574+3890_1574+3891insAATATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688704	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	218	0.0046	30	c.157 others(49): Show c.1574+3909_1574+3910insATATATATATATATATATATATATCT ATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0027 a0006c0014t0003g0027	1	218	0.0046	30	c.425 others(51): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACACACATATATACATACATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0102 a0015c0018t0001g0102	1	274	0.0037	30	c.69+ others(47): Show c.69+18943_69+18944insCACACATATATACATACATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACACACATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0096 a0006c0017t0001g0096	1	274	0.0037	30	c.69+ others(47): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	274	0.0037	30	c.69+ others(47): Show c.69+18943_69+18944insCATATATATATATATATATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903922	A A	AGGAAGGA others(23): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	274	0.0037	30	c.170 others(49): Show c.1700+4191_1700+4192insGGAAGGAAGGGAGGGAGGGAGGGAGG GAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500696	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0086 a0001c0001t0022g0086	1	352	0.0028	30	c.53 others(41): Show c.5318_*5319insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4325		chr19	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG03239.hp1 NA19004.hp1 HG02165.hp1 HG03239.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0181 a0001c0002t0024g0183 a0001c0002t0024g0187 a0001c0002t0024g0181 a0001c0002t0024g0183 a0001c0002t0024g0187	3	350	0.0086	30	c.-39 others(39): Show c.-391_-390insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18982.hp2 HG03669.hp1 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0004c0005t0002 a0001c0001t0003 a0004c0005t0002	a0001c0001t0003g0098 a0004c0005t0002g0039 a0001c0001t0003g0098 a0004c0005t0002g0039	2	106	0.0189	30	c.101 others(51): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1544956	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0105 a0001c0007t0066g0105	1	106	0.0094	30	c.101 others(51): Show c.101-165797_101-165796insGTGTGTGTGTGTGTGTGTGTGTGT GTGTAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624114	C C	CATATATA others(23): Show CATATATATATATGTGTGTGTGTGTGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0318 a0003c0004t0021g0318	1	348	0.0029	30	c.-17 others(41): Show c.-1734_-1733insATACACACACACACACACATATATATATAT	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		834		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143427096	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18945.hp1 NA18954.hp2 others(1): Show HG02165.hp1 NA18945.hp1 NA18954.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 others(1): Show a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066	a0001c0001t0063g0093 a0001c0001t0064g0114 a0001c0001t0065g0115 others(1): Show a0001c0001t0063g0093 a0001c0001t0064g0114 a0001c0001t0065g0115 a0001c0001t0066g0116	4	322	0.0124	30	c.13 others(41): Show c.1337_*1366dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	1366		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143455171	A A	ATTTTCTT others(23): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG06807.hp2 others(3): Show HG02809.hp1 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0100 a0001c0001t0102 a0002c0002t0020 others(2): Show a0001c0001t0100 a0001c0001t0102 a0002c0002t0020 a0002c0002t0037 a0002c0002t0118	a0001c0001t0100g0069 a0001c0001t0102g0063 a0002c0002t0020g0079 others(3): Show a0001c0001t0100g0069 a0001c0001t0102g0063 a0002c0002t0020g0079 a0002c0002t0037g0081 a0002c0002t0037g0084 a0002c0002t0118g0078	6	322	0.0186	30	c.-45 others(41): Show c.-4543_-4514dupGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding		4477		chr6	TogoVar
ADCK1_chr14_77795109_77940014	77816881	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01934.hp2 others(2): Show HG00741.hp2 HG01168.hp2 HG01934.hp2 HG02148.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0155 a0001c0004t0002g0032 a0001c0004t0002g0033 others(2): Show a0001c0001t0001g0155 a0001c0004t0002g0032 a0001c0004t0002g0033 a0001c0004t0002g0034 a0001c0004t0002g0186	5	286	0.0175	30	c.-11 others(47): Show c.-11-2065_-11-2064insATATATATATATATATATATATATATAT AT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03688.hp2 HG03017.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0041 a0001c0002t0001g0214 a0001c0001t0002g0041 a0001c0002t0001g0214	2	286	0.0070	30	c.220 others(47): Show c.220-6168_220-6167insATATATATATATATATATATATATTTTT TT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	286	0.0035	30	c.220 others(47): Show c.220-6168_220-6167insATATATATATATATATATATATTTTTTT TT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77921326	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18968.hp1 NA18975.hp2 HG00673.hp1 NA18968.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0068 a0001c0001t0002g0266 a0001c0002t0001g0241 a0001c0001t0002g0068 a0001c0001t0002g0266 a0001c0002t0001g0241	3	286	0.0105	30	c.859 others(47): Show c.859-3109_859-3108insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCY1_chr7_45569368_45728116	45583937	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19007.hp1 HG04184.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0019 a0001c0001t0006 a0001c0002t0019	a0001c0001t0006g0059 a0001c0002t0019g0038 a0001c0001t0006g0059 a0001c0002t0019g0038	2	278	0.0072	30	c.639 others(47): Show c.639+8783_639+8784insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp2 HG02258.hp1 others(2): Show HG01258.hp1 HG01981.hp2 HG02258.hp1 HG03471.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0010 a0002c0003t0007 a0001c0001t0002 a0001c0001t0010 a0002c0003t0007	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0010g0034 others(2): Show a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0010g0034 a0002c0003t0007g0031 a0002c0003t0007g0033	5	278	0.0180	30	c.102 others(49): Show c.1021-6724_1021-6723insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45711867	A A	ATATATTA others(23): Show ATATATTAAATATATAAATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0026 a0001c0001t0063g0026	1	278	0.0036	30	c.305 others(49): Show c.3057+1239_3057+1268dupTATATATTATATTAAATATATAAATA TATT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY2_chr5_7391138_7835081	7557135	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0120 a0001c0018t0001g0120	1	140	0.0071	30	c.570 others(49): Show c.570+36250_570+36251insTATATATATATATATATATATATATA TATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7557201	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0132 a0002c0003t0020g0132	1	140	0.0071	30	c.570 others(49): Show c.570+36302_570+36303insTATATATATATATATATATATATATA TATG	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24			chr5	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0120 a0001c0018t0001g0120	1	140	0.0071	30	c.721 others(49): Show c.721-17421_721-17420insAATATATATATATATATATATATATA TATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7804040	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0121 a0001c0001t0001g0079 a0001c0001t0001g0121	2	140	0.0143	30	c.277 others(47): Show c.2776-540_2776-511dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY3_chr2_24814169_24925237	24817466	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0244 a0001c0008t0003g0244	1	272	0.0037	30	c.24 others(41): Show c.2465_*2466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding		1702		chr2	TogoVar
ADCY5_chr3_123277296_123454090	123303893	G G	GAAGAGAA others(23): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 NA19091.hp2 HG00597.hp1 HG01358.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0137 a0001c0001t0003g0228 a0001c0001t0013g0125 a0001c0001t0001g0137 a0001c0001t0003g0228 a0001c0001t0013g0125	3	260	0.0115	30	c.255 others(47): Show c.2559+173_2559+174insTTCTTCTCTTCTCTTCTCTTCTCTTCTC TT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	13/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123310103	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18959.hp1 others(3): Show HG02896.hp1 HG02897.hp1 NA18959.hp1 NA18971.hp2 NA18995.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0008 a0001c0001t0001 a0001c0001t0002 a0001c0010t0008	a0001c0001t0001g0104 a0001c0001t0001g0197 a0001c0001t0002g0040 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0197 a0001c0001t0002g0040 a0001c0001t0002g0069 a0001c0010t0008g0151 a0001c0010t0008g0152	6	260	0.0231	30	c.244 others(49): Show c.2442+4102_2442+4131dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	12/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123345765	G G	GACACACA others(23): Show GACACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18959.hp2 HG03139.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0094 a0001c0002t0001g0222 a0001c0001t0008g0094 a0001c0002t0001g0222	2	260	0.0077	30	c.140 others(49): Show c.1406+2016_1406+2017insGTGTGTGTGTGTGTGTGTGTGTCTGT GTGT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	3/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123345769	G G	GACAGACA others(23): Show GACAGACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	260	0.0039	30	c.140 others(49): Show c.1406+2012_1406+2013insGTGTGTGTGTGTGTGTGTGTGTGTGT CTGT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	3/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123345769	G G	GACAGACA others(23): Show GACAGACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG03471.hp2 others(2): Show HG01884.hp1 HG02451.hp2 HG03471.hp2 HG06807.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0001 a0001c0001t0006 a0001c0001t0035	a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0181 a0001c0001t0006g0022 a0001c0001t0035g0257	5	260	0.0192	30	c.140 others(49): Show c.1406+2012_1406+2013insGTGTGTGTGTGTGTGTGTGTGTCTGT CTGT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	3/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123346607	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	260	0.0039	30	c.140 others(49): Show c.1406+1145_1406+1174dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	3/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123348036	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG03579.hp1 others(2): Show HG02109.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0136 a0001c0001t0001g0189 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0189 a0001c0001t0001g0238 a0001c0001t0002g0019 a0001c0001t0011g0237	5	260	0.0192	30	c.128 others(47): Show c.1285-134_1285-133insACACACACACACACACACACACACACAC AC	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	2/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123359331	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG03098.hp1 others(1): Show HG00438.hp1 HG00735.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0027	a0001c0001t0001g0160 a0001c0001t0002g0031 a0001c0001t0016g0259 others(1): Show a0001c0001t0001g0160 a0001c0001t0002g0031 a0001c0001t0016g0259 a0001c0001t0027g0096	4	260	0.0154	30	c.113 others(49): Show c.1135-6780_1135-6751dupATATATATATATATATATATATATAT ATAT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123393564	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03486.hp2 NA18939.hp2 others(3): Show HG00438.hp1 HG03486.hp2 NA18939.hp2 NA18954.hp2 NA19063.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0224 a0001c0001t0002g0077	6	260	0.0231	30	c.113 others(51): Show c.1135-41013_1135-40984dupTTTTATTTTATTTTATTTTATTTT ATTTTA	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123396819	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG00280.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0032 a0001c0001t0023g0229 a0001c0001t0002g0032 a0001c0001t0023g0229	2	260	0.0077	30	c.113 others(51): Show c.1135-44239_1135-44238insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY9_chr16_3957653_4121442	4018951	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG01891.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0068 a0001c0009t0099 a0001c0001t0068 a0001c0009t0099	a0001c0001t0068g0038 a0001c0009t0099g0181 a0001c0001t0068g0038 a0001c0009t0099g0181	2	320	0.0063	30	c.169 others(51): Show c.1694-11394_1694-11393insCACACACACACACACACACACACA CACACA	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/10			chr16	TogoVar
ADCY9_chr16_3957653_4121442	4047658	T T	TGGTTGAA others(23): Show TGGTTGAAATCCATGACCAATCAGGTCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03139.hp2 others(1): Show HG02257.hp2 HG02965.hp2 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0115 a0001c0001t0126 others(1): Show a0001c0001t0008 a0001c0001t0115 a0001c0001t0126 a0001c0002t0002	a0001c0001t0008g0238 a0001c0001t0115g0288 a0001c0001t0126g0315 others(1): Show a0001c0001t0008g0238 a0001c0001t0115g0288 a0001c0001t0126g0315 a0001c0002t0002g0303	4	320	0.0125	30	c.169 others(51): Show c.1694-40101_1694-40100insGAAGGACCTGATTGGTCATGGATT TCAACC	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/10			chr16	TogoVar

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