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
AAK1_chr2_69452997_69648739	69588913	AAAAAGGC others(14): Show AAAAAGGCAGCCTCTGATTTTC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0146 a0003c0021t0146	a0003c0021t0146g0282 a0003c0021t0146g0282	1	296	0.0034	-21	c.164 others(40): Show c.164-31956_164-31936delGAAAATCAGAGGCTGCCTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAR2_chr20_36231478_36261933	36237750	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp1 HG02486.hp2 others(8): Show HG01081.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02976.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0036 a0001c0002t0001g0158 a0001c0002t0001g0159 others(5): Show a0001c0002t0001g0036 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0161 a0001c0002t0002g0162	11	117	0.0940	-21	c.-49 others(38): Show c.-49+1276_-49+1296delATTATTATTATTATTATTATT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AATF_chr17_36943954_37061871	37001435	GGAAGGAA others(14): Show GGAAGGAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	244	0.0041	-21	c.139 others(42): Show c.1398+10579_1398+10599delGAAGGAAGGAAGGAAGGAAGA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11			chr17	TogoVar
AATK_chr17_81112295_81171221	81119148	GGGTCAGG others(14): Show GGGTCAGGTGAGGGTCAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0037 a0037	a0037c0050 a0037c0050	a0037c0050t0001 a0037c0050t0001	a0037c0050t0001g0283 a0037c0050t0001g0283	1	366	0.0027	-21	c.408 others(38): Show c.4084+211_4084+231delTCACCTGACCCTCACCTGACC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146395	AATATATA others(14): Show AATATATATATATGGAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0155 a0004c0006t0003g0155	1	346	0.0029	-21	c.24 others(32): Show c.2411_*2431delATATATTCCATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1611		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211305	CATATATA others(14): Show CATATATATGATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(108): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0002 a0003 a0010 others(3): Show a0002 a0003 a0010 a0020 a0021 a0022	a0002c0002 a0002c0015 a0003c0003 others(5): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0010c0018 a0020c0019 a0021c0027 a0022c0024	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(8): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0010c0018t0001 a0020c0019t0001 a0021c0027t0001 a0022c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(105): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0003c0003t0001g0044 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0074 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0106 a0003c0003t0001g0113 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0140 a0003c0003t0001g0151 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0213 a0003c0003t0001g0261 a0003c0003t0001g0305 a0003c0003t0005g0308 a0003c0003t0005g0315 a0003c0003t0005g0316 a0003c0003t0005g0317 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0016g0307 a0003c0025t0001g0045 a0010c0018t0001g0105 a0020c0019t0001g0205 a0021c0027t0001g0229 a0022c0024t0001g0302	111	300	0.3700	-21	c.100 others(40): Show c.1006+3378_1006+3398delATATATATATATCATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02717.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0025 a0002c0017 a0004c0061 a0001c0025 a0002c0017 a0004c0061	a0001c0025t0015 a0002c0017t0016 a0004c0061t0015 a0001c0025t0015 a0002c0017t0016 a0004c0061t0015	a0001c0025t0015g0182 a0002c0017t0016g0179 a0002c0017t0016g0180 others(1): Show a0001c0025t0015g0182 a0002c0017t0016g0179 a0002c0017t0016g0180 a0004c0061t0015g0181	4	33	0.1212	-21	c.69+ others(36): Show c.69+4970_69+4990delAAAAAAAAAAAAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA1_chr9_104776006_104933155	104916847	AAAATATG others(14): Show AAAATATGTCTTTTTGATGAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01891.hp2 others(12): Show HG00738.hp1 HG01071.hp2 HG01891.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0012 a0031	a0001c0097 a0002c0015 a0002c0032 others(9): Show a0001c0097 a0002c0015 a0002c0032 a0002c0033 a0003c0009 a0003c0038 a0004c0042 a0004c0113 a0005c0070 a0008c0006 a0012c0010 a0031c0110	a0001c0097t0001 a0002c0015t0002 a0002c0015t0013 others(10): Show a0001c0097t0001 a0002c0015t0002 a0002c0015t0013 a0002c0032t0001 a0002c0033t0032 a0003c0009t0001 a0003c0038t0005 a0004c0042t0008 a0004c0113t0002 a0005c0070t0001 a0008c0006t0015 a0012c0010t0005 a0031c0110t0002	a0001c0097t0001g0107 a0002c0015t0002g0314 a0002c0015t0013g0001 others(11): Show a0001c0097t0001g0107 a0002c0015t0002g0314 a0002c0015t0013g0001 a0002c0032t0001g0026 a0002c0032t0001g0316 a0002c0033t0032g0025 a0003c0009t0001g0193 a0003c0038t0005g0306 a0004c0042t0008g0204 a0004c0113t0002g0205 a0005c0070t0001g0315 a0008c0006t0015g0097 a0012c0010t0005g0202 a0031c0110t0002g0211	15	316	0.0475	-21	c.-93 others(40): Show c.-93+11067_-93+11087delCTTCATCAAAAAGACATATTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137015305	TGGGCCCA others(14): Show TGGGCCCAGCGGGTGACGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0198 a0001c0056t0001g0198	1	318	0.0031	-21	c.369 others(37): Show c.3697+88_3697+108delTCACCGTCACCCGCTGGGCCC	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	24/48			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18953.hp2 HG01515.hp1 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0245 a0001c0002t0001g0108 a0001c0002t0001g0245	2	17	0.1176	-21	c.111 others(38): Show c.1111+772_1111+792delTTTTTTTTTTTTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA8_chr17_68862289_68960392	68904291	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp2 HG02572.hp1 others(2): Show HG00438.hp1 HG02129.hp2 HG02572.hp1 HG02683.hp2 NA19063.hp2	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0002 a0004c0033 a0017c0055 a0001c0002 a0004c0033 a0017c0055	a0001c0002t0001 a0004c0033t0001 a0017c0055t0001 a0001c0002t0001 a0004c0033t0001 a0017c0055t0001	a0001c0002t0001g0015 a0001c0002t0001g0178 a0001c0002t0001g0241 others(2): Show a0001c0002t0001g0015 a0001c0002t0001g0178 a0001c0002t0001g0241 a0004c0033t0001g0061 a0017c0055t0001g0130	5	137	0.0365	-21	c.239 others(38): Show c.2399-813_2399-793delATTATTATTATTATTATTATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	19/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	41	0.0244	-21	c.150 others(36): Show c.1501+27_1501+47delAAAAAAAAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168934083	ATATTCTA others(14): Show ATATTCTAAATTATTCTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01081.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	278	0.0072	-21	c.305 others(40): Show c.3056+1080_3056+1100delATTTTAGAATAATTTAGAATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	23/27			chr2	TogoVar
ABCB7_chrX_75046048_75161283	75104047	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02572.hp1 others(5): Show HG01884.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0011 a0001c0003t0016 a0001c0003t0006 a0001c0003t0011 a0001c0003t0016	a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0222 others(5): Show a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0222 a0001c0003t0006g0223 a0001c0003t0011g0224 a0001c0003t0011g0225 a0001c0003t0011g0226 a0001c0003t0016g0218	8	29	0.2759	-21	c.334 others(38): Show c.334-5007_334-4987delAAAAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC1_chr16_15944616_16148053	16029485	AAGTGTTG others(14): Show AAGTGTTGGGGTTACAAGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0146 a0001c0004t0002g0146	1	248	0.0040	-21	c.616 others(38): Show c.616-3621_616-3601delTGTTGGGGTTACAAGTGTGAG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16053774	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18978.hp1 NA19068.hp1 HG03710.hp1 NA18978.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0011 a0001c0001t0004g0132 a0001c0002t0001g0163 a0001c0001t0003g0011 a0001c0001t0004g0132 a0001c0002t0001g0163	3	35	0.0857	-21	c.147 others(38): Show c.1473+978_1473+998delAAAAAAAAAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC3_chr17_50629881_50697253	50674044	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	340	0.0029	-21	c.259 others(38): Show c.2599+389_2599+409delTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95054021	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp1 others(61): Show HG00140.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG01074.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA18994.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0021 a0001c0023 a0001c0045 a0001c0049 a0001c0051 a0001c0055 a0001c0068 a0002c0004 a0002c0005 a0002c0061 a0002c0063 a0003c0008 a0003c0029 a0004c0006 a0005c0018 a0005c0019 a0006c0057 a0007c0070 a0009c0037 a0010c0073 a0011c0033 a0012c0062 a0013c0035 a0015c0034 a0017c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0009t0023 a0001c0021t0001 a0001c0021t0013 a0001c0023t0006 a0001c0045t0001 a0001c0049t0003 a0001c0051t0012 a0001c0055t0001 a0001c0068t0003 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002 a0002c0061t0003 a0002c0063t0001 a0003c0008t0001 a0003c0029t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0015 a0005c0018t0001 a0005c0019t0002 a0006c0057t0001 a0007c0070t0005 a0009c0037t0002 a0010c0073t0001 a0011c0033t0017 a0012c0062t0003 a0013c0035t0003 a0015c0034t0001 a0017c0058t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0145 others(61): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0002g0102 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0221 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0229 a0001c0002t0002g0047 a0001c0002t0002g0169 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0014g0178 a0001c0002t0018g0176 a0001c0003t0001g0156 a0001c0003t0001g0225 a0001c0003t0002g0076 a0001c0003t0002g0114 a0001c0003t0002g0230 a0001c0003t0014g0081 a0001c0009t0023g0030 a0001c0021t0001g0010 a0001c0021t0013g0017 a0001c0023t0006g0008 a0001c0045t0001g0129 a0001c0049t0003g0067 a0001c0051t0012g0065 a0001c0055t0001g0028 a0001c0068t0003g0007 a0002c0004t0001g0140 a0002c0004t0002g0094 a0002c0004t0002g0104 a0002c0004t0002g0200 a0002c0004t0002g0231 a0002c0005t0002g0202 a0002c0061t0003g0058 a0002c0063t0001g0070 a0003c0008t0001g0053 a0003c0029t0001g0217 a0004c0006t0001g0139 a0004c0006t0001g0154 a0004c0006t0001g0159 a0004c0006t0002g0052 a0004c0006t0015g0100 a0005c0018t0001g0218 a0005c0019t0002g0223 a0006c0057t0001g0087 a0007c0070t0005g0057 a0009c0037t0002g0110 a0010c0073t0001g0180 a0011c0033t0017g0003 a0012c0062t0003g0013 a0013c0035t0003g0149 a0015c0034t0001g0001 a0017c0058t0001g0203	64	82	0.7805	-21	c.336 others(38): Show c.3367-858_3367-838delAAAAAAAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183922057	ATAAATAA others(14): Show ATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01934.hp2 others(7): Show HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0011 a0004c0012 a0001c0002 a0003c0011 a0004c0012	a0001c0002t0001 a0003c0011t0001 a0004c0012t0001 a0001c0002t0001 a0003c0011t0001 a0004c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0052 a0001c0002t0001g0073 others(5): Show a0001c0002t0001g0001 a0001c0002t0001g0052 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0095 a0003c0011t0001g0078 a0004c0012t0001g0101	10	376	0.0266	-21	c.421 others(38): Show c.4213-677_4213-657delATTTATTTATTTATTTATTTA	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16172047	AGTGGGAT others(14): Show AGTGGGATGGATAAATGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02922.hp2 others(2): Show HG02258.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG06807.hp1	a0001 a0014 a0001 a0014	a0001c0004 a0014c0018 a0001c0004 a0014c0018	a0001c0004t0001 a0014c0018t0001 a0001c0004t0001 a0014c0018t0001	a0001c0004t0001g0065 a0014c0018t0001g0249 a0014c0018t0001g0250 others(2): Show a0001c0004t0001g0065 a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252	5	262	0.0191	-21	c.278 others(40): Show c.2787+1216_2787+1236delCCACTCATTTATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCE1_chr4_145093311_145134524	145095367	TCACTTTG others(14): Show TCACTTTGTCCAGCACATCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0123 a0001c0001t0009g0123	1	258	0.0039	-21	c.-30 others(32): Show c.-3079_-3059delCACTTTGTCCAGCACATCCAC	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding		2943		chr4	TogoVar
ABCE1_chr4_145093311_145134524	145100580	AAGTTGTC others(14): Show AAGTTGTCATTTCCCGAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG01243.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0022 a0001c0003t0006g0022	2	258	0.0078	-21	c.-28 others(38): Show c.-28+2164_-28+2184delTTGTCATTTCCCGAATAATAG	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABCG1_chr21_42214140_42302244	42295333	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG06807.hp1 HG02451.hp1 HG02615.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0326 a0001c0002t0002g0143 a0001c0002t0002g0328 a0001c0001t0001g0326 a0001c0002t0002g0143 a0001c0002t0002g0328	3	24	0.1250	-21	c.177 others(38): Show c.1772+697_1772+717delAAAAAAAAAAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG5_chr2_43807472_43843839	43839403	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03490.hp1 HG02809.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0230 a0001c0001t0001g0008 a0001c0001t0001g0230	2	5	0.4000	-21	c.-74 others(30): Show c.-745_-725delAAAAAAAAAAAAAAAAAAAAA	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding		565		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43839403	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03490.hp1 HG02809.hp1 HG03490.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0010 a0002c0003 a0003c0010	a0002c0003t0090 a0003c0010t0020 a0002c0003t0090 a0003c0010t0020	a0002c0003t0090g0035 a0003c0010t0020g0036 a0002c0003t0090g0035 a0003c0010t0020g0036	2	3	0.6667	-21	c.63+ others(34): Show c.63+308_63+328delTTTTTTTTTTTTTTTTTTTTT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD11_chr7_73731094_73743802	73741881	AGTGTTTT others(14): Show AGTGTTTTTCTAGAGTTGGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA19009.hp1 HG02055.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	172	0.0116	-21	c.-31 others(32): Show c.-3132_-3112delCCACCAACTCTAGAAAAACAC	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding		3080		chr7	TogoVar
ABHD12_chr20_25295214_25395835	25329429	CTGTCCAC others(14): Show CTGTCCACCCCCCAGTTTTCAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0227 a0001c0003t0002g0228	2	314	0.0064	-21	c.317 others(38): Show c.317-6020_317-6000delATGAAAACTGGGGGGTGGACA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	2/12			chr20	TogoVar
ABHD14A_chr3_51970064_51986196	51981894	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01074.hp2 others(17): Show HG00280.hp2 HG00544.hp2 HG01074.hp2 HG01515.hp1 HG02135.hp1 HG02155.hp1 HG02698.hp1 HG03017.hp2 HG03540.hp2 HG04115.hp1 NA18961.hp1 NA18962.hp1 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19085.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0008c0008t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0012 a0008c0008t0001g0001	20	67	0.2985	-21	c.87 others(30): Show c.877_*897delAAAAAAAAAAAAAAAAAAAAA	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding		699		chr3	TogoVar
ABI1_chr10_26741596_26865958	26843476	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18955.hp1 others(4): Show HG02015.hp1 HG02135.hp1 NA18955.hp1 NA18961.hp2 NA18966.hp1 NA19002.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 others(4): Show a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296	7	347	0.0202	-21	c.117 others(40): Show c.117+17250_117+17270delATATATATATATTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI3BP_chr3_100744156_100998421	100749961	CTAAAAAA others(14): Show CTAAAAAATTGAAGTTTAAATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01884.hp1 others(18): Show HG00280.hp2 HG00735.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0008 a0010 a0011 a0012 a0017 a0018 a0025	a0001c0001 a0001c0004 a0001c0056 others(11): Show a0001c0001 a0001c0004 a0001c0056 a0002c0002 a0005c0014 a0006c0011 a0008c0023 a0008c0030 a0010c0039 a0011c0060 a0012c0047 a0017c0051 a0018c0038 a0025c0036	a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 others(15): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0004t0009 a0001c0004t0010 a0001c0056t0025 a0002c0002t0010 a0005c0014t0009 a0006c0011t0012 a0006c0011t0022 a0008c0023t0017 a0008c0030t0017 a0010c0039t0012 a0011c0060t0023 a0012c0047t0010 a0017c0051t0010 a0018c0038t0012 a0025c0036t0009	a0001c0001t0009g0219 a0001c0001t0009g0224 a0001c0001t0010g0002 others(18): Show a0001c0001t0009g0219 a0001c0001t0009g0224 a0001c0001t0010g0002 a0001c0001t0024g0160 a0001c0004t0009g0191 a0001c0004t0009g0218 a0001c0004t0010g0012 a0001c0056t0025g0132 a0002c0002t0010g0142 a0005c0014t0009g0204 a0006c0011t0012g0139 a0006c0011t0022g0171 a0006c0011t0022g0173 a0008c0023t0017g0005 a0008c0030t0017g0153 a0010c0039t0012g0151 a0011c0060t0023g0039 a0012c0047t0010g0133 a0017c0051t0010g0018 a0018c0038t0012g0159 a0025c0036t0009g0189	21	236	0.0890	-21	c.51 others(30): Show c.513_*533delTATTTAAACTTCAATTTTTTA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	68/68	513		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100782734	GAAGAGAA others(14): Show GAAGAGAAAGGAGAAAATCAGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19066.hp1 HG00544.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0040 a0001c0004t0002 a0001c0001t0040 a0001c0004t0002	a0001c0001t0040g0221 a0001c0004t0002g0025 a0001c0001t0040g0221 a0001c0004t0002g0025	2	236	0.0085	-21	c.416 others(40): Show c.4163-2546_4163-2526delACTGATTTTCTCCTTTCTCTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	57/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114513227	CGTGATGA others(14): Show CGTGATGAATTTAGAAAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02622.hp1 others(4): Show HG01884.hp2 HG02451.hp2 HG02622.hp1 HG02970.hp2 HG03130.hp1 HG03453.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0002c0009	a0001c0001t0089 a0001c0001t0100 a0001c0001t0105 others(4): Show a0001c0001t0089 a0001c0001t0100 a0001c0001t0105 a0001c0002t0050 a0001c0002t0158 a0001c0022t0160 a0002c0009t0090	a0001c0001t0089g0118 a0001c0001t0100g0245 a0001c0001t0105g0145 others(4): Show a0001c0001t0089g0118 a0001c0001t0100g0245 a0001c0001t0105g0145 a0001c0002t0050g0008 a0001c0002t0158g0014 a0001c0022t0160g0152 a0002c0009t0090g0010	7	172	0.0407	-21	c.895 others(40): Show c.895-21370_895-21350delATTTCTTTCTAAATTCATCAC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8131890	TGCACAGC others(14): Show TGCACAGCAGCCCGCATCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0012g0008 a0001c0002t0003g0044 a0001c0001t0012g0008 a0001c0002t0003g0044	2	318	0.0063	-21	c.11- others(38): Show c.11-25274_11-25254delTGGAGATGCGGGCTGCTGTGC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149203395	GCAATCAG others(14): Show GCAATCAGATGCAGTAGCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01071.hp1 others(14): Show HG00280.hp1 HG00738.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01515.hp1 HG01952.hp2 HG02257.hp1 HG02698.hp1 HG02698.hp2 HG03669.hp1 HG04184.hp2 NA18955.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0128 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0211 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0145 a0001c0001t0002g0229 a0001c0001t0003g0209 a0001c0001t0003g0212 a0003c0007t0001g0146 a0003c0007t0001g0233	17	256	0.0664	-21	c.448 others(38): Show c.448+2968_448+2988delCAATCAGATGCAGTAGCAGCA	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	5/23			chr5	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0233 a0001c0001t0011g0233	1	7	0.1429	-21	c.640 others(36): Show c.640-419_640-399delTTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26595587	TTTGAATT others(14): Show TTTGAATTCGAGAAGTCTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0018 a0003c0007t0018	a0003c0007t0018g0005 a0003c0007t0018g0005	1	408	0.0025	-21	c.-13 others(32): Show c.-1395_-1375delTTGAATTCGAGAAGTCTATTA	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		1365		chr6	TogoVar
ABTB1_chr3_127667952_127685926	127672590	GGCCTGGC others(14): Show GGCCTGGCCCTCGGCGCGGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	438	0.0023	-21	c.-43 others(30): Show c.-435_-415delGCCTGGCCCTCGGCGCGGGCT	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding		361		chr3	TogoVar
ABTB3_chr12_107313434_107664642	107445863	TCCCTCTC others(14): Show TCCCTCTCCCCTCTCCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp2 NA18522.hp2 HG01884.hp1 HG03139.hp2 NA18522.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0011 a0015c0023 a0001c0001 a0001c0011 a0015c0023	a0001c0001t0006 a0001c0011t0006 a0015c0023t0006 a0001c0001t0006 a0001c0011t0006 a0015c0023t0006	a0001c0001t0006g0100 a0001c0011t0006g0101 a0015c0023t0006g0099 a0001c0001t0006g0100 a0001c0011t0006g0101 a0015c0023t0006g0099	3	107	0.0280	-21	c.113 others(42): Show c.1136-74600_1136-74580delCTCTCCCCTCTCCCCTCTCCC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37260280	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19085.hp1 NA18970.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0145 a0001c0001t0003g0147	2	296	0.0068	-21	c.133 others(38): Show c.1330-771_1330-751delAAAAATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACAD11_chr3_132553141_132664809	132641587	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG01106.hp2 others(27): Show HG00621.hp2 HG00738.hp2 HG01106.hp2 HG01175.hp2 HG01433.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02132.hp1 HG02135.hp2 HG02738.hp1 HG03490.hp1 HG03492.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18955.hp1 NA18962.hp2 NA18967.hp2 NA18987.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19082.hp1 NA21309.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0009	a0002c0002 a0002c0005 a0004c0007 others(2): Show a0002c0002 a0002c0005 a0004c0007 a0005c0015 a0009c0013	a0002c0002t0001 a0002c0005t0001 a0004c0007t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0004c0007t0001 a0005c0015t0001 a0009c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0134 others(24): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0170 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0005t0001g0138 a0002c0005t0001g0141 a0004c0007t0001g0144 a0004c0007t0001g0149 a0004c0007t0001g0152 a0005c0015t0001g0146 a0009c0013t0001g0153	30	314	0.0955	-21	c.537 others(36): Show c.537+364_537+384delCTCCTCTTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACADSB_chr10_123004006_123063290	123045153	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0064 a0001c0001t0051g0064	1	367	0.0027	-21	c.900 others(36): Show c.900+670_900+690delATATATATATATATATATTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP2_chr3_195269745_195448020	195300034	CTTTTTTT others(14): Show CTTTTTTTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00609.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19078.hp1 NA19080.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0004t0002 a0002c0005t0005	a0001c0001t0001g0146 a0001c0001t0002g0006 a0001c0001t0002g0019 others(96): Show a0001c0001t0001g0146 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0119 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0265 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0085 a0001c0001t0005g0159 a0001c0001t0005g0178 a0001c0001t0016g0187 a0001c0001t0016g0188 a0001c0001t0016g0189 a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0322 a0001c0001t0020g0324 a0001c0001t0021g0002 a0001c0001t0022g0001 a0001c0001t0023g0264 a0001c0001t0027g0316 a0001c0001t0030g0060 a0001c0001t0037g0323 a0001c0004t0002g0103 a0001c0004t0002g0104 a0001c0004t0002g0105 a0002c0005t0005g0194	99	284	0.3486	-21	c.139 others(40): Show c.1395+1520_1395+1540delAAAAAAAAAAAGAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	15/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195424281	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03490.hp1 HG03492.hp1 HG01346.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0035 a0001c0002t0004 a0001c0002t0035	a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0035g0057 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0035g0057	3	303	0.0099	-21	c.53+ others(38): Show c.53+18493_53+18513delAAAAAAAAAAAAAAAAAAATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1301796	CCCACACA others(14): Show CCCACACATGCAGGGTGTGGAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	294	0.0034	-21	c.338 others(36): Show c.338+171_338+191delTTCCACACCCTGCATGTGTGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	5/23			chr1	TogoVar
ACBD3_chr1_226139679_226191741	226172180	ATTTTCAG others(14): Show ATTTTCAGTGCTAGTCCTGGTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00621.hp1 others(48): Show HG00280.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG02080.hp2 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp1 NA19007.hp2 NA19030.hp1 NA19054.hp2 NA19063.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0006 a0003c0003t0002 a0001c0001t0002 a0002c0002t0006 a0003c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0020 others(40): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0303 a0002c0002t0006g0301 a0002c0002t0006g0302 a0003c0003t0002g0255 a0003c0003t0002g0269 a0003c0003t0002g0288	51	377	0.1353	-21	c.287 others(38): Show c.287-6201_287-6181delGACCAGGACTAGCACTGAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180439136	ACATAAAA others(14): Show ACATAAAATTTACCATTTTAAC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	332	0.0030	-21	c.385 others(38): Show c.385-8895_385-8875delGTTAAAATGGTAAATTTTATG	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7			chr1	TogoVar
ACD_chr16_67652512_67665260	67663577	AGTTGATG others(14): Show AGTTGATGACCCGAGGGCAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	266	0.0038	-21	c.-33 others(32): Show c.-3378_-3358delCTCTGCCCTCGGGTCATCAAC	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding		3318		chr16	TogoVar
ACER1_chr19_6301142_6338612	6311625	GAGGAGGA others(14): Show GAGGAGGAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	393	0.0025	-21	c.350 others(36): Show c.350+503_350+523delTCTTCTTCTTCTTCTCCTCCT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	3/5			chr19	TogoVar
ACER3_chr11_76855918_77031797	76950390	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18979.hp1 NA18980.hp1 others(2): Show NA18952.hp1 NA18979.hp1 NA18980.hp1 NA18994.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0097 others(2): Show a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0097 a0001c0001t0004g0058 a0001c0001t0008g0091	5	344	0.0145	-21	c.215 others(38): Show c.215-8586_215-8566delATATATATATATATATATAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41879647	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0014 a0001c0003t0005g0014	1	12	0.0833	-21	c.226 others(38): Show c.2266-744_2266-724delTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar

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