Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
ANKRD7_chr7_118219704_118247732	118224853	G G	GGAAGAGG others(31): Show GGAAGAGGAAGAATGAGACCCGCAGCCAGGGCTACAACC	frameshift_variant frameshift_variant	HIGH	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0001 a0003c0004t0002g0001	1	404	0.0025	38	c.24_ others(43): Show c.24_61dupGAAGAGGAAGAATGAGACCCGCAGCCAGGGCTACAACC	p.Leu others(4): Show p.Leu21fs	ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	1/7	189/1313	62/765	21/254		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKS1B_chr12_98738974_99989936	98800675	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0044 a0001c0001t0023g0044	1	11	0.0909	38	c.327 others(55): Show c.3270+321_3270+322insATATATATATATATATATATATATATAT ATATATATAT		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	21/26						chr12	TogoVar
ANKS1B_chr12_98738974_99989936	98800680	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0026 a0002c0009t0008g0026	1	45	0.0222	38	c.327 others(55): Show c.3270+316_3270+317insCATATATATATATATATATATATATATA TATATATATA		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	21/26						chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139440	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03130.hp1 others(1): Show HG02258.hp1 HG02258.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0003g0018 a0001c0001t0025g0048 others(1): Show a0001c0001t0001g0007 a0001c0001t0003g0018 a0001c0001t0025g0048 a0001c0002t0002g0029	4	5	0.8000	38	c.252 others(59): Show c.2526+14848_2526+14849insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26						chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99874022	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp2 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0007 a0001c0012t0001g0016 a0001c0001t0001g0007 a0001c0012t0001g0016	2	37	0.0541	38	c.135 others(57): Show c.135-48634_135-48633insATATATATATATATATATATATATAT ATATATATATAT		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	1/26						chr12	TogoVar
ANO2_chr12_5557655_5950259	5610723	C C	CATATATA others(31): Show CATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0094 a0006c0013t0001g0094	1	44	0.0227	38	c.208 others(57): Show c.2087+1932_2087+1933insATATATATATATATATATATATATAT ATATGTATATAT		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24						chr12	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0111 a0001c0003t0009g0111	1	67	0.0149	38	c.115 others(57): Show c.1154+2206_1154+2207insTATATATATATATATATATATATATA TATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18970.hp2 HG02083.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0141 a0001c0001t0003g0125 a0001c0001t0003g0141	2	270	0.0074	38	c.189 others(57): Show c.1899-2788_1899-2787insTATATATATATATATATATATATATA TATATATATATA		ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG02451.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0032 a0003c0005t0010g0033 a0003c0005t0010g0032 a0003c0005t0010g0033	2	270	0.0074	38	c.189 others(57): Show c.1899-2803_1899-2802insTTATATATATATATATATATATATAT ATATATATATAT		ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp1 NA19056.hp1 others(2): Show HG00621.hp2 HG01192.hp1 NA19056.hp1 NA19063.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0108	5	32	0.1563	38	c.151 others(57): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATATATATATAT		ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANP32A_chr15_68773535_68825895	68812367	A A	AGAAGGGG others(31): Show AGAAGGGGCTGGGGGAACATGGCTATACATAGTGATGTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	352	0.0028	38	c.54+ others(53): Show c.54+8330_54+8331insAACATCACTATGTATAGCCATGTTCCCCCA GCCCCTTC		ANP32A	ENSG00000140350.15	transcript	ENST00000465139.6	protein_coding	1/6						chr15	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATGTATGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	218	0.0046	38	c.18+ others(53): Show c.18+4211_18+4212insATATATATATATATGTATGTATATATATAT ATATATAT		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168113263	C C	CTCTCACT others(31): Show CTCTCACTTGGTCTGGTGAGAGCCCAGTCTCTGCTTTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01175.hp2 others(35): Show HG00099.hp2 HG00735.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0003t0001g0241 a0001c0011t0001g0219 a0002c0002t0001g0043 a0002c0002t0001g0229 a0002c0002t0001g0235 a0003c0004t0001g0223 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0233	38	269	0.1413	38	c.19- others(55): Show c.19-14647_19-14610dupCCCAGTCTCTGCTTTCATCTCACTTGGT CTGGTGAGAG		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168113263	C C	CTCTCACT others(31): Show CTCTCACTTGGTCTGGTGAGGGCCCAGTCTCTGCTTTCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	232	0.0043	38	c.19- others(55): Show c.19-14802_19-14801insGGCCCAGTCTCTGCTTTCATCTCACTTG GTCTGGTGAG		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168113348	G G	GGTCTGGT others(31): Show GGTCTGGTGAGAGCCCAGTCTCTGCTTTCATCTCACTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	158	0.0063	38	c.19- others(55): Show c.19-14699_19-14698insTGTCTGGTGAGAGCCCAGTCTCTGCTTT CATCTCACTT		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168113361	C C	CCCAGTCT others(31): Show CCCAGTCTCTGCTTTCATCTCACTTGGTCTGGTGAGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02922.hp1 others(1): Show HG02145.hp2 HG02572.hp1 HG02922.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0234 a0006c0007t0001g0016	4	282	0.0142	38	c.19- others(55): Show c.19-14686_19-14685insGCCAGTCTCTGCTTTCATCTCACTTGGT CTGGTGAGAG		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168155549	A A	AATATATA others(31): Show AATATATAATTATATAATATATAATTATATATTATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18964.hp2 NA18970.hp2 HG02145.hp1 NA18964.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163	3	193	0.0155	38	c.196 others(55): Show c.196-6925_196-6888dupATATATAATTATATATTATAAATATATA TAATTATATA		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02132.hp1 NA20905.hp2 HG01975.hp2 HG02132.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0191 a0001c0001t0002g0328 a0001c0003t0001g0184 a0001c0001t0001g0191 a0001c0001t0002g0328 a0001c0003t0001g0184	3	140	0.0214	38	c.-10 others(49): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding					1036		chr15	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	347	0.0029	38	c.19- others(51): Show c.19-352_19-351insAATATATATATATATATATATATATATATATA TATATA		ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25						chr5	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01256.hp1 others(4): Show HG00099.hp2 HG00140.hp2 HG01256.hp1 HG01261.hp1 HG03225.hp1 HG03453.hp2 HG03710.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0005c0006 a0010c0027	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0005c0006t0004 a0010c0027t0001	a0001c0001t0001g0069 a0001c0003t0001g0254 a0001c0003t0001g0270 others(4): Show a0001c0001t0001g0069 a0001c0003t0001g0254 a0001c0003t0001g0270 a0001c0003t0001g0280 a0001c0014t0001g0249 a0005c0006t0004g0008 a0010c0027t0001g0306	7	122	0.0574	38	c.160 others(57): Show c.1600-3835_1600-3834insAAGAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20						chr7	TogoVar
AOC1_chr7_150847517_150866504	150859404	T T	TGTTATTA others(31): Show TGTTATTAATAAAATCCTGGCCGGGCACGGTGGCTCACG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0133 a0002c0001t0001g0133	1	418	0.0024	38	c.185 others(55): Show c.1856+357_1856+394dupGTTATTAATAAAATCCTGGCCGGGCACG GTGGCTCACG		AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
AP1M2_chr19_10567671_10592312	10585281	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19002.hp2 NA19010.hp2 others(2): Show NA18970.hp1 NA19002.hp2 NA19010.hp2 NA19068.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0017 a0001c0002t0004g0036 a0001c0002t0004g0038 others(1): Show a0001c0002t0004g0017 a0001c0002t0004g0036 a0001c0002t0004g0038 a0001c0002t0007g0037	5	391	0.0128	38	c.43- others(53): Show c.43-1212_43-1211insCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT TTCTTTCT		AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11						chr19	TogoVar
AP1S3_chr2_223750326_223842582	223789821	G G	GAGCGAGA others(31): Show GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03486.hp2 NA20129.hp1 HG00639.hp1 HG03486.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0015 a0002c0002t0002 a0001c0001t0002 a0001c0001t0015 a0002c0002t0002	a0001c0001t0002g0310 a0001c0001t0015g0216 a0002c0002t0002g0291 a0001c0001t0002g0310 a0001c0001t0015g0216 a0002c0002t0002g0291	3	335	0.0090	38	c.4-1 others(53): Show c.4-11953_4-11952insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCT		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4						chr2	TogoVar
AP2A2_chr11_920870_1017240	998323	A A	ACCCGCCC others(31): Show ACCCGCCCCCATTCTGACCCCCCGCCCCCATTCTGACCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0258 a0001c0003t0002g0258	1	203	0.0049	38	c.195 others(57): Show c.1957-2072_1957-2071insCCCCGCCCCCATTCTGACCCCCCGCC CCCATTCTGACC		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128468	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG01496.hp2 HG01109.hp2 HG01358.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117	3	385	0.0078	38	c.806 others(53): Show c.806+621_806+622insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128586	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	399	0.0025	38	c.806 others(53): Show c.806+503_806+504insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128626	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01981.hp1 HG02630.hp2 others(2): Show HG00323.hp2 HG01981.hp1 HG02630.hp2 NA18995.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0346 a0001c0001t0003g0356 a0001c0002t0001g0251 others(2): Show a0001c0001t0001g0346 a0001c0001t0003g0356 a0001c0002t0001g0251 a0001c0004t0002g0237 a0001c0004t0002g0245	5	396	0.0126	38	c.806 others(53): Show c.806+463_806+464insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128705	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp1 HG02622.hp1 HG02083.hp2 HG02135.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0323 a0001c0003t0002g0035 a0001c0003t0002g0209 a0001c0002t0001g0323 a0001c0003t0002g0035 a0001c0003t0002g0209	3	391	0.0077	38	c.806 others(53): Show c.806+384_806+385insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128784	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG02615.hp1 others(4): Show HG00438.hp1 HG00673.hp1 HG02615.hp1 NA18951.hp2 NA18954.hp1 NA19030.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0002 a0001c0006t0008 a0001c0006t0015	a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0003g0375 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0003g0375 a0001c0004t0002g0052 a0001c0006t0008g0257 a0001c0006t0008g0318 a0001c0006t0015g0383	7	392	0.0179	38	c.806 others(53): Show c.806+305_806+306insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128863	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18981.hp1 NA18994.hp2 HG02486.hp1 NA18981.hp1 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0013 a0001c0001 a0001c0004 a0005c0013	a0001c0001t0001 a0001c0004t0002 a0005c0013t0002 a0001c0001t0001 a0001c0004t0002 a0005c0013t0002	a0001c0001t0001g0012 a0001c0004t0002g0248 a0005c0013t0002g0246 a0001c0001t0001g0012 a0001c0004t0002g0248 a0005c0013t0002g0246	3	399	0.0075	38	c.806 others(53): Show c.806+226_806+227insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128903	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0290 a0001c0002t0001g0338 a0001c0002t0001g0339	3	396	0.0076	38	c.806 others(53): Show c.806+186_806+187insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128943	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02293.hp2 NA18973.hp1 HG01433.hp1 HG02293.hp2 NA18973.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0240 a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0240	3	394	0.0076	38	c.806 others(53): Show c.806+146_806+147insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19063.hp1 NA18995.hp1 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0237 a0001c0004t0002g0245 a0001c0004t0002g0237 a0001c0004t0002g0245	2	391	0.0051	38	c.806 others(53): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCTGGCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0197 a0001c0003t0002g0197	1	390	0.0026	38	c.806 others(53): Show c.806+106_806+107insTGGGCCAGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2129023	C C	CCCCACAG others(31): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03098.hp2 HG02602.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0014 a0001c0001t0006 a0001c0004t0014	a0001c0001t0006g0138 a0001c0004t0014g0238 a0001c0001t0006g0138 a0001c0004t0014g0238	2	397	0.0050	38	c.806 others(51): Show c.806+66_806+67insCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP4S1_chr14_31020649_31101450	31096670	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0273 a0001c0001t0010g0273	1	332	0.0030	38	c.36 others(49): Show c.3635_*3636insATATATATATATATATATATATATATATATATAT ATAT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding					221		chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	248	0.0040	38	c.36 others(49): Show c.3641_*3642insATATATATATATATATATATATATATATATATAT ATAT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding					227		chr14	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18987.hp2 NA19083.hp2 NA18975.hp2 NA18987.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0124 a0001c0001t0011g0126 a0001c0001t0011g0139 a0001c0001t0003g0124 a0001c0001t0011g0126 a0001c0001t0011g0139	3	187	0.0160	38	c.956 others(53): Show c.956-274_956-273insATATATATATATATATATATATATATATAT ATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA2_chr15_28880974_29123315	29063060	G G	GAGTTGAT others(31): Show GAGTTGATCTGGGTCAGTGTCTGTATGGGTAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0199 a0001c0001t0012g0199	1	202	0.0050	38	c.951 others(55): Show c.951+8236_951+8237insGTCAGTGTCTGTATGGGTAGGGAGGGAA GTTGATCTGG		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29063618	G G	GAGTTGAT others(31): Show GAGTTGATCTGGGTCAGTGTCTGTATGGGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0040 a0002c0002t0021g0040	1	202	0.0050	38	c.951 others(55): Show c.951+8794_951+8795insGTCAGTGTCTGTATGGGTGGGGAGGGAA GTTGATCTGG		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40830211	C C	CACACACA others(31): Show CACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0097 a0001c0002t0049g0097	1	189	0.0053	38	c.164 others(55): Show c.1644+251_1644+252insATATATATATATATATATGTGTGTGTGT GTGTGTGTGT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	13/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41050989	T T	TTTCCCTC others(31): Show TTTCCCTCGACACAGGATGCTTCCCTCGACACAGGATGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02647.hp1 HG01169.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0008 a0002c0005t0001 a0002c0005t0008	a0002c0005t0001g0142 a0002c0005t0008g0176 a0002c0005t0001g0142 a0002c0005t0008g0176	2	166	0.0120	38	c.-51 others(57): Show c.-51+14586_-51+14587insGCATCCTGTGTCGAGGGAAGCATCCT GTGTCGAGGGAA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41159969	G G	GGAGGAGG others(31): Show GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0048 a0001c0004t0004g0048	1	190	0.0053	38	c.-41 others(59): Show c.-416-16828_-416-16827insTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17						chr4	TogoVar
APLP2_chr11_130064894_130149805	130092700	G G	GGGGAGGG others(31): Show GGGGAGGGAGAGAGAGGGAGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0261 a0002c0002t0012g0261	1	236	0.0042	38	c.106 others(57): Show c.106-16726_106-16725insAGGGAGAGAGAGGGAGAGGGGGAGGG GGAGGGGGAGGG		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660363	G G	GGAAAGAA others(31): Show GGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0036 a0002c0001t0001g0036	1	422	0.0024	38	c.16+ others(53): Show c.16+5493_16+5494insTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(31): Show GGAAGGAAGGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG02148.hp2 others(4): Show HG01099.hp2 HG01256.hp1 HG02148.hp2 NA18981.hp1 NA18990.hp2 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0133 a0001c0002t0001g0134 others(3): Show a0001c0002t0001g0026 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0182	7	104	0.0673	38	c.16+ others(53): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC CTTCCTTC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(31): Show GGAAGGAAGGAAGGAAAGAAAGAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(27): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG01099.hp1 HG01106.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02300.hp2 HG03831.hp1 NA18942.hp2 NA18951.hp1 NA18962.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA19002.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0011 a0001c0002t0001g0070 a0001c0002t0001g0086 others(25): Show a0001c0002t0001g0011 a0001c0002t0001g0070 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0191 a0001c0002t0001g0218 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0279 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0291 a0002c0001t0001g0088 a0002c0001t0001g0156	30	127	0.2362	38	c.16+ others(53): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTTTCTTTCTTTCCTTC CTTCCTTC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(31): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18955.hp2 NA18965.hp1 others(6): Show NA18948.hp2 NA18955.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18982.hp2 NA18986.hp2 NA19010.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0140 a0001c0002t0001g0213 a0001c0003t0001g0002 others(2): Show a0001c0002t0001g0140 a0001c0002t0001g0213 a0001c0003t0001g0002 a0001c0003t0001g0181 a0001c0003t0001g0214	9	106	0.0849	38	c.16+ others(53): Show c.16+5481_16+5482insTTTCTTTCTTTTTCTTTCTTTCCTTCCTTC CTTCCTTC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	329	0.0030	38	c.16+ others(53): Show c.16+5446_16+5447insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(31): Show CTCTCTTTCTCTCCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0215 a0008c0009t0001g0215	1	82	0.0122	38	c.570 others(53): Show c.570-771_570-770insCTTTCTCTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCT		APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr22	TogoVar

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