Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AKT1_chr14_104764349_104800748	104777252	CCACACCT others(10): Show CCACACCTGGGGCACAGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	384	0.0026	-17	c.176 others(32): Show c.176-499_176-483delCCTGTGCCCCAGGTGTG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104777269	GCACACCT others(10): Show GCACACCTGGGGCACAGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01168.hp1 others(12): Show HG01069.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG03654.hp2 HG04115.hp2 NA18947.hp2 NA18960.hp1 NA19002.hp2 NA19056.hp1 NA19057.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0022 others(8): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0111 a0001c0002t0001g0132 a0001c0002t0001g0143 a0001c0002t0001g0258 a0001c0002t0001g0294	15	383	0.0392	-17	c.176 others(32): Show c.176-516_176-500delGCTGTGCCCCAGGTGTG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104777380	GGGCACAC others(10): Show GGGCACACGCACACCTGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(43): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp2 HG01243.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18970.hp1 NA18985.hp2 NA19000.hp2 NA19058.hp1 NA19085.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0001c0002t0018 a0001c0005t0001	a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0002t0001g0003 others(30): Show a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0075 a0001c0002t0001g0092 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0001g0135 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0264 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0014g0163 a0001c0002t0018g0118 a0001c0005t0001g0128 a0001c0005t0001g0287	46	384	0.1198	-17	c.176 others(32): Show c.176-627_176-611delTCAGGTGTGCGTGTGCC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104777399	GCACACAC others(10): Show GCACACACCTGGGGCACA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	384	0.0026	-17	c.176 others(32): Show c.176-646_176-630delTGTGCCCCAGGTGTGTG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT3_chr1_243494724_243855243	243526778	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0152 a0001c0001t0030g0152	1	12	0.0833	-17	c.125 others(38): Show c.1252-14369_1252-14353delTTTTTTTTTTTTTTTTA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527869	AAACACAC others(10): Show AAACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA21309.hp1 HG01261.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0225 a0001c0001t0012g0008 a0001c0001t0001g0225 a0001c0001t0012g0008	2	296	0.0068	-17	c.125 others(38): Show c.1252-15460_1252-15444delGTGTGTGTGTGTGTGTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243832120	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(82): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18974.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(82): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0240 a0001c0001t0003g0055 a0001c0001t0003g0060 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0280 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0019g0269 a0001c0001t0019g0270 a0001c0001t0033g0145 a0001c0001t0036g0029 a0001c0001t0038g0233 a0001c0001t0039g0268	85	110	0.7727	-17	c.46+ others(34): Show c.46+10988_46+11004delTTTTTTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAS1_chr3_52193160_52219327	52193982	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	352	0.0028	-17	c.-44 others(28): Show c.-4482_-4466delAAAAGAAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4177		chr3	TogoVar
ALCAM_chr3_105361909_105581900	105523139	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	7	0.1429	-17	c.175 others(34): Show c.175-1139_175-1123delAAAAAAAAAAAAAAAAA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A1_chr9_72895671_72958053	72908571	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp2 HG03710.hp1 others(2): Show HG02809.hp1 HG03195.hp2 HG03710.hp1 HG06807.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0181	5	276	0.0181	-17	c.135 others(36): Show c.1358+1014_1358+1030delTCTTTCTTTCTTTCTTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1L2_chr12_105014790_105089458	105033219	AGGTGCTT others(10): Show AGGTGCTTGAGAAATGCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0014 a0001c0001t0014g0264 a0001c0001t0014g0014 a0001c0001t0014g0264	2	384	0.0052	-17	c.224 others(36): Show c.2244+1064_2244+1080delAGCATTTCTCAAGCACC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	19/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071628	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp2 HG02572.hp1 others(4): Show HG02015.hp2 HG02056.hp2 HG02572.hp1 HG03516.hp1 HG03516.hp2 NA19058.hp1 NA19083.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0008	a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 others(3): Show a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0002c0004t0002 a0004c0008t0011 a0004c0008t0017	a0001c0001t0005g0243 a0001c0001t0005g0250 a0001c0001t0011g0260 others(4): Show a0001c0001t0005g0243 a0001c0001t0005g0250 a0001c0001t0011g0260 a0001c0002t0002g0263 a0002c0004t0002g0259 a0004c0008t0011g0233 a0004c0008t0017g0232	7	325	0.0215	-17	c.194 others(32): Show c.194-841_194-825delAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071630	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18961.hp2 NA18991.hp1 others(3): Show HG03710.hp1 NA18961.hp2 NA18991.hp1 NA19012.hp1 NA19030.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0032 a0001c0002t0015	a0001c0001t0001g0262 a0001c0001t0014g0264 a0001c0001t0018g0240 others(3): Show a0001c0001t0001g0262 a0001c0001t0014g0264 a0001c0001t0018g0240 a0001c0001t0032g0280 a0001c0002t0015g0269 a0001c0002t0015g0282	6	380	0.0158	-17	c.194 others(32): Show c.194-843_194-827delAAAAATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071632	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	365	0.0027	-17	c.194 others(32): Show c.194-845_194-829delAAAAAAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH7A1_chr5_126536841_126600219	126565394	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	141	0.0071	-17	c.871 others(34): Show c.871+2848_871+2864delTTTTTTTTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	9/17			chr5	TogoVar
ALDH9A1_chr1_165657216_165703562	165698592	CGGGCCGC others(10): Show CGGGCCGCGGGAGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(5): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG02109.hp1 HG02970.hp1 HG04228.hp2 NA18978.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0002c0008t0004	a0001c0001t0001g0108 a0001c0001t0002g0118 a0001c0001t0002g0205 others(4): Show a0001c0001t0001g0108 a0001c0001t0002g0118 a0001c0001t0002g0205 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0003t0002g0250 a0002c0008t0004g0017	8	314	0.0255	-17	c.-51 others(24): Show c.-51_-35delCGCCCCTCCCGCGGCCC	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding		31		chr1	TogoVar
ALG12_chr22_49895229_49923438	49919153	ACCCTCGA others(10): Show ACCCTCGACCTGGGCTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(92): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0013 a0007c0014 a0008c0017	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(23): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 a0001c0004t0030 a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0002c0003t0004 a0002c0003t0014 a0002c0003t0016 a0002c0003t0036 a0002c0003t0037 a0002c0003t0038 a0002c0013t0028 a0007c0014t0013 a0008c0017t0007	a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(58): Show a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0080 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0007g0008 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0009 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0008g0084 a0001c0002t0015g0023 a0001c0002t0015g0082 a0001c0002t0029g0070 a0001c0002t0031g0074 a0001c0002t0033g0069 a0001c0002t0034g0075 a0001c0002t0035g0081 a0001c0004t0009g0016 a0001c0004t0009g0093 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0018g0028 a0001c0004t0021g0027 a0001c0004t0030g0096 a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0016g0015 a0002c0003t0036g0057 a0002c0003t0037g0055 a0002c0003t0038g0051 a0002c0013t0028g0052 a0007c0014t0013g0089 a0008c0017t0007g0079	95	346	0.2746	-17	c.-98 others(26): Show c.-986_-970delCGAGCCCAGGTCGAGGG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		716		chr22	TogoVar
ALG14_chr1_94969405_95077951	95058324	GAGATGAT others(10): Show GAGATGATAGCCGGGCGT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0006 a0001c0001t0065g0006	1	386	0.0026	-17	c.288 others(34): Show c.288+6525_288+6541delACGCCCGGCTATCATCT	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	2/3			chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130084674	ACAGAAAT others(10): Show ACAGAAATGCATCGTCTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 NA18973.hp2 others(1): Show HG00544.hp1 HG00558.hp1 NA18973.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0143 a0001c0001t0001g0144	4	260	0.0154	-17	c.20+ others(32): Show c.20+2639_20+2655delCAGAAATGCATCGTCTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	1/7			chr3	TogoVar
ALG8_chr11_78095946_78144626	78131499	AGGCTGAG others(10): Show AGGCTGAGGCCAGAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(108): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0003 a0007c0007 others(1): Show a0001c0001 a0001c0003 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 a0008c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(93): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0003t0001g0015 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0007c0007t0001g0098 a0008c0010t0001g0087	111	400	0.2775	-17	c.96- others(32): Show c.96-4080_96-4064delGTCCTCTGGCCTCAGCC	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG9_chr11_111777195_111876581	111780713	TATGGTCT others(10): Show TATGGTCTAATCCATGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG00733.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0301 a0001c0001t0018g0302 a0001c0001t0018g0301 a0001c0001t0018g0302	2	312	0.0064	-17	c.56 others(28): Show c.5667_*5683delGGCATGGATTAGACCAT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding		1481		chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102461358	TGTTTGTT others(10): Show TGTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	402	0.0025	-17	c.124 others(34): Show c.124-1574_124-1558delCAAACAAACAAACAAAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding	1/2			chr7	TogoVar
ALKBH4_chr7_102451238_102469863	102465488	GCTTTTTT others(10): Show GCTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02148.hp2 others(2): Show HG02055.hp1 HG02109.hp2 HG02148.hp2 HG03139.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0003 a0001c0001t0001 a0001c0001t0003 a0004c0004t0003	a0001c0001t0001g0157 a0001c0001t0003g0012 a0001c0001t0003g0151 others(2): Show a0001c0001t0001g0157 a0001c0001t0003g0012 a0001c0001t0003g0151 a0001c0001t0003g0153 a0004c0004t0003g0048	5	108	0.0463	-17	c.-66 others(26): Show c.-669_-653delAAAAAAAAAAAAAAAAG	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		626		chr7	TogoVar
ALKBH4_chr7_102451238_102469863	102466760	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01069.hp1 others(31): Show HG00099.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01361.hp2 HG01952.hp1 HG01978.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA19009.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0017	a0001c0001t0001g0149 a0002c0002t0001g0003 a0002c0002t0001g0007 others(14): Show a0001c0001t0001g0149 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0170 a0002c0002t0007g0112 a0002c0002t0013g0172 a0002c0002t0013g0173 a0002c0002t0017g0171	34	47	0.7234	-17	c.-19 others(28): Show c.-1941_-1925delAAAAAAAAAAAAAAAAA	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		1898		chr7	TogoVar
ALK_chr2_29187774_29926586	29792661	CTGCAATA others(10): Show CTGCAATAAAGCAAGTAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02970.hp1 others(1): Show HG02257.hp1 HG02572.hp1 HG02970.hp1 HG03209.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0011 a0002c0052 a0005c0013 others(1): Show a0002c0011 a0002c0052 a0005c0013 a0007c0057	a0002c0011t0001 a0002c0052t0001 a0005c0013t0004 others(1): Show a0002c0011t0001 a0002c0052t0001 a0005c0013t0004 a0007c0057t0002	a0002c0011t0001g0042 a0002c0052t0001g0017 a0005c0013t0004g0020 others(1): Show a0002c0011t0001g0042 a0002c0052t0001g0017 a0005c0013t0004g0020 a0007c0057t0002g0023	4	78	0.0513	-17	c.668 others(36): Show c.668-74981_668-74965delATACTTGCTTTATTGCA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889743	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0027 a0002c0001t0001g0027	1	80	0.0125	-17	c.667 others(36): Show c.667+30233_667+30249delTCTCTCTCTCTCTCTCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690407	CTCCCCTC others(10): Show CTCCCCTCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(18): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003	a0001c0001t0001g0125 a0001c0001t0001g0126 a0002c0002t0002g0062 others(16): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0002c0002t0002g0062 a0003c0003t0001g0005 a0003c0003t0001g0038 a0003c0003t0001g0052 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0002g0014 a0003c0003t0002g0153 a0004c0004t0001g0035 a0004c0004t0001g0036 a0004c0004t0001g0045 a0004c0004t0002g0110 a0004c0004t0003g0223 a0004c0004t0003g0224	21	271	0.0775	-17	c.512 others(34): Show c.512-5299_512-5283delTCCCCCTTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX5AP_chr13_30730543_30769426	30732237	TGTGTGGG others(10): Show TGTGTGGGGCCCCAGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02897.hp2 others(5): Show HG02615.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03453.hp2 HG03579.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0066 others(5): Show a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071	8	420	0.0190	-17	c.-33 others(28): Show c.-3368_-3352delGTGTGGGGCCCCAGAAG	ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding		3305		chr13	TogoVar
ALOXE3_chr17_8090900_8123514	8107959	AAGGAAGG others(10): Show AAGGAAGGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19064.hp2 HG02615.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0246 a0001c0001t0001g0069 a0001c0001t0002g0246	2	404	0.0050	-17	c.168 others(34): Show c.1684+492_1684+508delCTCTCTCTCTCCTTCCT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK1_chr4_112292369_112447621	112445907	GAATTCTC others(10): Show GAATTCTCTGAGTTAAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0133 a0001c0001t0008g0133	1	304	0.0033	-17	c.46 others(28): Show c.4698_*4714delAATTCTCTGAGTTAAGC	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding		3287		chr4	TogoVar
ALPK2_chr18_58476247_58634091	58520428	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0210 a0004c0003t0001g0210	1	30	0.0333	-17	c.566 others(36): Show c.5666-3263_5666-3247delTTTTTTTTTTTTTTTTT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK3_chr15_84812356_84878479	84848012	AGATTGCA others(10): Show AGATTGCACCACTGTACT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0011 a0022c0029t0011	a0022c0029t0011g0094 a0022c0029t0011g0094	1	338	0.0030	-17	c.165 others(36): Show c.1653+7081_1653+7097delGATTGCACCACTGTACT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13			chr15	TogoVar
ALPL_chr1_21504423_21583410	21573442	AAAAAAAG others(10): Show AAAAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0123 a0002c0002t0012g0123	1	368	0.0027	-17	c.863 others(32): Show c.863-217_863-201delAGAAAAGAAAAGAAAAA	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	8	0.1250	-17	c.-12 others(36): Show c.-120-3885_-120-3869delTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01515.hp2 others(5): Show HG01243.hp1 HG01257.hp2 HG01515.hp2 HG02145.hp1 HG02809.hp1 HG03704.hp1 NA18972.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0007g0048 a0001c0002t0002g0013	8	11	0.7273	-17	c.-18 others(28): Show c.-1845_-1829delTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding		1513		chr11	TogoVar
AMFR_chr16_56356452_56430545	56403138	AAACACAC others(10): Show AAACACACGGTAAAAGCG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0332 a0001c0001t0013g0332	1	354	0.0028	-17	c.841 others(30): Show c.841-37_841-21delCGCTTTTACCGTGTGTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	6/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56404128	AGGTTCAA others(10): Show AGGTTCAAGCAATTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	354	0.0028	-17	c.840 others(32): Show c.840+764_840+780delAGAGAATTGCTTGAACC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	6/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109511250	AAAAAAAA others(10): Show AAAAAAAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02630.hp1 others(7): Show HG01099.hp2 HG02055.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0003 a0001c0001t0019g0021 a0001c0001t0003g0003 a0001c0001t0019g0021	10	395	0.0253	-17	c.-19 others(28): Show c.-1935_-1919delCTTTCTTTCTTTTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1524		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109511254	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02622.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0002g0002 a0001c0001t0003g0003	4	376	0.0106	-17	c.-19 others(28): Show c.-1939_-1923delCTTTCTTTCTTTCTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1528		chr1	TogoVar
AMPH_chr7_38378704_38636373	38610299	AAGAAAAG others(10): Show AAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	214	0.0047	-17	c.69+ others(34): Show c.69+20967_69+20983delCTTTTCTTTTCTTTTCT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70521640	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp2 HG02738.hp1 others(4): Show HG00423.hp1 HG01981.hp2 HG02738.hp1 HG04184.hp2 NA18612.hp1 NA18967.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001	a0001c0002t0001g0018 a0001c0002t0001g0070 a0001c0002t0006g0071 others(1): Show a0001c0002t0001g0018 a0001c0002t0001g0070 a0001c0002t0006g0071 a0002c0003t0001g0076	7	16	0.4375	-17	c.55- others(32): Show c.55-1095_55-1079delTTTTTTTTTTTTTTTTT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMY1A_chr1_103650760_103669554	103661789	TATGGTCA others(10): Show TATGGTCAATTTATAAAA	T T	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	230	0.0043	-17	c.110 others(34): Show c.1102-866_1102-850delTGGTCAATTTATAAAAA	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMZ1_chr7_2683202_2724683	2693190	CTCCCGAG others(10): Show CTCCCGAGTTTAAGCAAT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19077.hp2 NA19087.hp1 NA18946.hp1 NA19077.hp2 NA19087.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0009c0017t0001 a0001c0001t0001 a0009c0017t0001	a0001c0001t0001g0180 a0009c0017t0001g0256 a0009c0017t0001g0257 a0001c0001t0001g0180 a0009c0017t0001g0256 a0009c0017t0001g0257	3	436	0.0069	-17	c.-21 others(36): Show c.-219+4897_-219+4913delCCGAGTTTAAGCAATTC	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145011987	AACTGCAA others(10): Show AACTGCAAAGCAGCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	334	0.0030	-17	c.328 others(36): Show c.328-16401_328-16385delGGAAGCTGCTTTGCAGT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026979	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	333	0.0030	-17	c.328 others(36): Show c.328-31393_328-31377delAAAAAAAAATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218160	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	330	0.0030	-17	c.-28 others(34): Show c.-28+2024_-28+2040delAAAAATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218162	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0160 a0001c0001t0007g0024 a0001c0001t0002g0160 a0001c0001t0007g0024	2	332	0.0060	-17	c.-28 others(34): Show c.-28+2026_-28+2042delAAATATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218164	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG00280.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0005g0008 a0001c0001t0002g0001 a0001c0001t0005g0008	2	342	0.0058	-17	c.-28 others(34): Show c.-28+2028_-28+2044delATATATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218166	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG02647.hp2 others(2): Show HG01433.hp2 HG02572.hp1 HG02647.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0004 a0001c0002t0021	a0001c0001t0003g0057 a0001c0001t0005g0008 a0001c0002t0004g0079 others(2): Show a0001c0001t0003g0057 a0001c0001t0005g0008 a0001c0002t0004g0079 a0001c0002t0004g0080 a0001c0002t0021g0090	5	315	0.0159	-17	c.-28 others(34): Show c.-28+2029_-28+2045delTATATATATATATATAT	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3			chr10	TogoVar
ANAPC4_chr4_25372263_25423498	25376147	TCCGCCTC others(10): Show TCCGCCTCACTGCAAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG01516.hp2 others(21): Show HG01106.hp2 HG01175.hp2 HG01516.hp2 HG02109.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03704.hp1 HG03831.hp2 NA18945.hp2 NA18980.hp2 NA18990.hp1 NA19001.hp2 NA19065.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0117 others(14): Show a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0001g0242 a0001c0002t0001g0008 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0004t0001g0010 a0001c0004t0001g0051	24	454	0.0529	-17	c.-12 others(28): Show c.-1207_-1191delCCGCCTCACTGCAAGCC	ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding		1115		chr4	TogoVar

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