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
APBB2_chr4_40805027_41219542	40845588	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01517.hp1 HG03098.hp2 others(1): Show HG01361.hp2 HG01517.hp1 HG03098.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0008 a0001c0002 a0002c0001 a0002c0008	a0001c0002t0006 a0001c0002t0007 a0002c0001t0029 others(1): Show a0001c0002t0006 a0001c0002t0007 a0002c0001t0029 a0002c0008t0046	a0001c0002t0006g0058 a0001c0002t0007g0172 a0002c0001t0029g0002 others(1): Show a0001c0002t0006g0058 a0001c0002t0007g0172 a0002c0001t0029g0002 a0002c0008t0046g0090	4	44	0.0909	12	c.153 others(33): Show c.1530-15023_1530-15012dupTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851717	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	178	0.0056	12	c.153 others(33): Show c.1530-21152_1530-21141dupATATATATATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851738	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01109.hp2 HG00642.hp1 HG01069.hp2 HG01109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0015 a0003c0006t0015	a0003c0006t0015g0081 a0003c0006t0015g0082 a0003c0006t0015g0132 a0003c0006t0015g0081 a0003c0006t0015g0082 a0003c0006t0015g0132	3	122	0.0246	12	c.153 others(33): Show c.1530-21162_1530-21161insAATATATATATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40881930	G G	GCTGCAGT others(5): Show GCTGCAGTGTCAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0046 a0002c0008t0046	a0002c0008t0046g0090 a0002c0008t0046g0090	1	190	0.0053	12	c.152 others(31): Show c.1529+8422_1529+8433dupGTGACACTGCAG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40898880	C C	CACACACA others(5): Show CACACACACACAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02109.hp2 others(1): Show HG01099.hp2 HG01891.hp1 HG02109.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0011 a0002c0001t0001 a0002c0001t0036 a0001c0003t0011 a0002c0001t0001 a0002c0001t0036	a0001c0003t0011g0015 a0001c0003t0011g0016 a0002c0001t0001g0059 others(1): Show a0001c0003t0011g0015 a0001c0003t0011g0016 a0002c0001t0001g0059 a0002c0001t0036g0113	4	5	0.8000	12	c.125 others(31): Show c.1255-5470_1255-5469insCTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40901909	A A	ATATGTGT others(5): Show ATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	74	0.0135	12	c.125 others(31): Show c.1255-8499_1255-8498insCACACACACATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	145	0.0069	12	c.836 others(29): Show c.836-1182_836-1181insGTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG03579.hp2 HG02257.hp2 HG02922.hp2 HG03579.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0006 a0002c0001t0009 a0002c0005t0008 a0002c0001t0006 a0002c0001t0009 a0002c0005t0008	a0002c0001t0006g0168 a0002c0001t0009g0186 a0002c0005t0008g0127 a0002c0001t0006g0168 a0002c0001t0009g0186 a0002c0005t0008g0127	3	8	0.3750	12	c.836 others(29): Show c.836-3829_836-3818dupTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40975753	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG01192.hp2 others(6): Show HG00733.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG02717.hp1 HG03195.hp1 HG03491.hp2 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0017 a0001c0004t0001 a0001c0004t0002 others(6): Show a0001c0002t0017 a0001c0004t0001 a0001c0004t0002 a0001c0004t0052 a0002c0001t0001 a0002c0001t0007 a0002c0001t0010 a0002c0001t0023 a0002c0001t0027	a0001c0002t0017g0095 a0001c0004t0001g0181 a0001c0004t0002g0116 others(6): Show a0001c0002t0017g0095 a0001c0004t0001g0181 a0001c0004t0002g0116 a0001c0004t0052g0093 a0002c0001t0001g0166 a0002c0001t0007g0087 a0002c0001t0010g0025 a0002c0001t0023g0184 a0002c0001t0027g0018	9	41	0.2195	12	c.836 others(31): Show c.836-30692_836-30681dupGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982387	G G	GGAAAGGA others(5): Show GGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0115 a0002c0001t0006g0115	1	160	0.0063	12	c.835 others(31): Show c.835+31195_835+31196insTCCTTTCCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982400	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0024 a0001c0003t0013g0024	1	134	0.0075	12	c.835 others(31): Show c.835+31171_835+31182dupTTTCTTTCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982400	G G	GGAAAGGA others(5): Show GGAAAGGAAGAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0089 a0001c0003t0058g0089	1	134	0.0075	12	c.835 others(31): Show c.835+31182_835+31183insTTTCTTCCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982405	G G	GGAAAGGA others(5): Show GGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0077 a0002c0001t0001g0077	1	181	0.0055	12	c.835 others(31): Show c.835+31177_835+31178insTCCTTTCCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40991010	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG01169.hp1 others(5): Show HG00438.hp2 HG01106.hp1 HG01169.hp1 HG01358.hp1 HG02738.hp1 NA18955.hp2 NA18990.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0043 a0002c0005t0008	a0001c0002t0001g0070 a0001c0002t0001g0137 a0001c0002t0002g0071 others(5): Show a0001c0002t0001g0070 a0001c0002t0001g0137 a0001c0002t0002g0071 a0001c0002t0002g0118 a0001c0002t0002g0122 a0001c0002t0004g0028 a0001c0002t0043g0169 a0002c0005t0008g0176	8	120	0.0667	12	c.835 others(31): Show c.835+22572_835+22573insAAAAAAAAAAAA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41000105	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01361.hp2 HG01516.hp1 others(9): Show HG01258.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03491.hp2 NA18990.hp1 NA18999.hp2 NA19043.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0002c0001t0001 a0002c0001t0016 a0002c0001t0031 a0002c0001t0053	a0001c0002t0001g0179 a0001c0002t0002g0118 a0001c0002t0002g0175 others(9): Show a0001c0002t0001g0179 a0001c0002t0002g0118 a0001c0002t0002g0175 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0002t0017g0095 a0001c0002t0017g0120 a0002c0001t0001g0148 a0002c0001t0016g0154 a0002c0001t0031g0017 a0002c0001t0053g0143	12	52	0.2308	12	c.835 others(31): Show c.835+13477_835+13478insTACACACACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41027364	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG03139.hp2 HG01099.hp1 HG02257.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0001 a0002c0001t0013 a0002c0005t0041 a0001c0003t0001 a0002c0001t0013 a0002c0005t0041	a0001c0003t0001g0164 a0002c0001t0013g0023 a0002c0005t0041g0124 a0001c0003t0001g0164 a0002c0001t0013g0023 a0002c0005t0041g0124	3	14	0.2143	12	c.19+ others(27): Show c.19+5860_19+5871dupATATATATATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41033584	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01993.hp2 NA18960.hp2 others(1): Show HG00597.hp1 HG01993.hp2 NA18960.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0012 a0001c0004t0020 others(1): Show a0001c0003t0001 a0001c0004t0012 a0001c0004t0020 a0001c0004t0039	a0001c0003t0001g0043 a0001c0004t0012g0001 a0001c0004t0020g0036 others(1): Show a0001c0003t0001g0043 a0001c0004t0012g0001 a0001c0004t0020g0036 a0001c0004t0039g0180	4	46	0.0870	12	c.-50 others(27): Show c.-50-292_-50-281dupTGTGTGTGTGTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41052208	A A	AATACATA others(5): Show AATACATACATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp1 others(22): Show HG00280.hp2 HG00438.hp2 HG00558.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02004.hp1 HG02698.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp1 HG04204.hp1 NA18955.hp2 NA18970.hp1 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0038 a0001c0002t0043 a0001c0002t0049 a0002c0001t0045	a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0099 others(22): Show a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0179 a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0104 a0001c0002t0002g0119 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0004g0028 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0002t0010g0006 a0001c0002t0017g0120 a0001c0002t0019g0178 a0001c0002t0021g0083 a0001c0002t0038g0051 a0001c0002t0043g0169 a0001c0002t0049g0097 a0002c0001t0045g0040	25	44	0.5682	12	c.-51 others(31): Show c.-51+13356_-51+13367dupGTATGTATGTAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41062157	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0031 a0001c0002t0022g0031	1	24	0.0417	12	c.-51 others(29): Show c.-51+3407_-51+3418dupATAAATAAATAA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41132041	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG01516.hp2 others(1): Show HG01106.hp2 HG01346.hp2 HG01516.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0013 a0001c0004t0004 a0002c0001t0003 others(1): Show a0001c0003t0013 a0001c0004t0004 a0002c0001t0003 a0002c0001t0010	a0001c0003t0013g0024 a0001c0004t0004g0140 a0002c0001t0003g0049 others(1): Show a0001c0003t0013g0024 a0001c0004t0004g0140 a0002c0001t0003g0049 a0002c0001t0010g0025	4	31	0.1290	12	c.-26 others(33): Show c.-261+10934_-261+10945dupATTTATTTATTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	2/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159898	A A	AAGAAGGA others(5): Show AAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0151 a0002c0001t0003g0151	1	189	0.0053	12	c.-41 others(33): Show c.-416-16768_-416-16757dupCCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGGA others(5): Show AAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	97	0.0103	12	c.-41 others(33): Show c.-416-16777_-416-16766dupCCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(5): Show GAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	152	0.0066	12	c.-41 others(33): Show c.-416-16799_-416-16798insTCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGAAGAA others(5): Show GAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01975.hp1 NA18522.hp1 HG01109.hp1 HG01975.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0057 a0001c0002t0001 a0001c0002t0002 a0002c0001t0057	a0001c0002t0001g0173 a0001c0002t0002g0084 a0002c0001t0057g0074 a0001c0002t0001g0173 a0001c0002t0002g0084 a0002c0001t0057g0074	3	141	0.0213	12	c.-41 others(33): Show c.-416-16814_-416-16813insTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGAAGAA others(5): Show GAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0005 a0001c0002t0003 a0002c0001t0005	a0001c0002t0003g0033 a0001c0002t0003g0034 a0002c0001t0005g0153 a0001c0002t0003g0033 a0001c0002t0003g0034 a0002c0001t0005g0153	3	68	0.0441	12	c.-41 others(33): Show c.-416-16831_-416-16820dupTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41216419	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03492.hp1 others(1): Show HG03453.hp1 HG03486.hp1 HG03492.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0001 a0002c0001t0008 a0001c0002t0003 a0002c0001t0001 a0002c0001t0008	a0001c0002t0003g0034 a0002c0001t0001g0037 a0002c0001t0001g0077 others(1): Show a0001c0002t0003g0034 a0002c0001t0001g0037 a0002c0001t0001g0077 a0002c0001t0008g0079	4	16	0.2500	12	c.-24 others(23): Show c.-2443_-2432dupCCCCCCCCCCCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		1878		chr4	TogoVar
APBB3_chr5_140553268_140569598	140564375	T T	TACGGGGC others(5): Show TACGGGGCGGGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	2	409	0.0049	12	c.-14 others(21): Show c.-142_-131dupGTCCCGCCCCGT	APBB3	ENSG00000113108.20	transcript	ENST00000357560.9	protein_coding	1/13	131		chr5	TogoVar
APBB3_chr5_140553268_140569598	140564393	G G	GCGGGACA others(5): Show GCGGGACACGGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02083.hp1 HG02717.hp2 others(6): Show HG01496.hp2 HG02083.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 a0001c0001t0002 a0001c0002t0002 a0003c0006t0002	a0001c0001t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 others(3): Show a0001c0001t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0003c0006t0002g0014 a0003c0006t0002g0049 a0003c0006t0002g0050	9	410	0.0220	12	c.-16 others(21): Show c.-160_-149dupGCCCGTGTCCCG	APBB3	ENSG00000113108.20	transcript	ENST00000357560.9	protein_coding	1/13	149		chr5	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG01928.hp2 others(6): Show HG00558.hp1 HG00733.hp1 HG01928.hp2 HG02129.hp2 HG04204.hp1 NA18999.hp2 NA19004.hp1 NA19043.hp2 NA19067.hp2	a0001 a0002 a0029 a0001 a0002 a0029	a0001c0001 a0002c0002 a0029c0026 a0001c0001 a0002c0002 a0029c0026	a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 a0002c0002t0048 a0029c0026t0002	a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0009g0242 a0001c0001t0028g0137 a0002c0002t0048g0173 a0029c0026t0002g0180	9	123	0.0732	12	c.120 others(27): Show c.1208-67_1208-66insGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58456235	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG04204.hp2 others(1): Show HG02809.hp2 HG03209.hp2 HG04204.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0008 a0001c0001t0010 a0002c0002t0002 others(1): Show a0001c0001t0008 a0001c0001t0010 a0002c0002t0002 a0006c0007t0003	a0001c0001t0008g0157 a0001c0001t0010g0024 a0002c0002t0002g0356 others(1): Show a0001c0001t0008g0157 a0001c0001t0010g0024 a0002c0002t0002g0356 a0006c0007t0003g0043	4	190	0.0211	12	c.45 others(23): Show c.4554_*4555insAAAAAAAAAAAA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		2865		chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58478361	C C	CTCCTTCC others(5): Show CTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(147): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0011 a0002c0002 others(6): Show a0001c0001 a0001c0011 a0002c0002 a0002c0012 a0003c0003 a0003c0005 a0004c0004 a0004c0013 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0034 a0001c0001t0040 a0001c0001t0047 a0001c0001t0053 a0001c0011t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0020 a0002c0002t0027 a0002c0002t0035 a0002c0012t0048 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0003t0010 a0003c0003t0013 a0003c0003t0014 a0003c0005t0001 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0007 a0004c0004t0017 a0004c0013t0001 a0005c0006t0001 a0005c0006t0003	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0256 others(144): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0256 a0001c0001t0001g0282 a0001c0001t0001g0358 a0001c0001t0002g0182 a0001c0001t0002g0217 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0003g0088 a0001c0001t0003g0132 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0183 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0206 a0001c0001t0004g0221 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0004g0306 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0005g0283 a0001c0001t0006g0070 a0001c0001t0006g0085 a0001c0001t0006g0091 a0001c0001t0006g0116 a0001c0001t0007g0066 a0001c0001t0007g0079 a0001c0001t0007g0089 a0001c0001t0007g0118 a0001c0001t0008g0165 a0001c0001t0008g0209 a0001c0001t0008g0255 a0001c0001t0009g0041 a0001c0001t0010g0031 a0001c0001t0011g0093 a0001c0001t0011g0094 a0001c0001t0011g0131 a0001c0001t0013g0362 a0001c0001t0014g0033 a0001c0001t0016g0193 a0001c0001t0016g0269 a0001c0001t0020g0017 a0001c0001t0022g0086 a0001c0001t0022g0100 a0001c0001t0026g0013 a0001c0001t0029g0019 a0001c0001t0034g0108 a0001c0001t0040g0261 a0001c0001t0047g0142 a0001c0001t0053g0363 a0001c0011t0015g0036 a0001c0011t0015g0125 a0002c0002t0001g0253 a0002c0002t0001g0347 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0213 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0003g0098 a0002c0002t0003g0128 a0002c0002t0004g0008 a0002c0002t0004g0178 a0002c0002t0004g0179 a0002c0002t0004g0334 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0052 a0002c0002t0009g0107 a0002c0002t0020g0016 a0002c0002t0027g0012 a0002c0002t0035g0042 a0002c0012t0048g0159 a0003c0003t0001g0184 a0003c0003t0001g0189 a0003c0003t0001g0212 a0003c0003t0001g0240 a0003c0003t0001g0244 a0003c0003t0001g0249 a0003c0003t0001g0273 a0003c0003t0001g0289 a0003c0003t0001g0311 a0003c0003t0001g0321 a0003c0003t0001g0324 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0002g0223 a0003c0003t0002g0343 a0003c0003t0003g0004 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0078 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0087 a0003c0003t0003g0096 a0003c0003t0003g0121 a0003c0003t0004g0353 a0003c0003t0008g0312 a0003c0003t0010g0021 a0003c0003t0010g0025 a0003c0003t0010g0032 a0003c0003t0013g0364 a0003c0003t0013g0365 a0003c0003t0014g0023 a0003c0005t0001g0169 a0003c0005t0001g0181 a0003c0005t0001g0192 a0003c0005t0001g0196 a0003c0005t0001g0199 a0003c0005t0001g0211 a0003c0005t0001g0317 a0003c0005t0005g0262 a0003c0005t0005g0287 a0003c0005t0005g0288 a0003c0005t0005g0305 a0003c0005t0010g0027 a0003c0005t0012g0097 a0003c0005t0012g0115 a0004c0004t0001g0141 a0004c0004t0001g0252 a0004c0004t0001g0272 a0004c0004t0002g0180 a0004c0004t0004g0005 a0004c0004t0004g0208 a0004c0004t0007g0101 a0004c0004t0017g0229 a0004c0013t0001g0207 a0005c0006t0001g0185 a0005c0006t0001g0248 a0005c0006t0001g0263 a0005c0006t0001g0267 a0005c0006t0001g0277 a0005c0006t0001g0292 a0005c0006t0001g0304 a0005c0006t0001g0354 a0005c0006t0003g0083 a0005c0006t0003g0090 a0005c0006t0003g0102	150	288	0.5208	12	c.50- others(27): Show c.50-7626_50-7615dupAGGAAGGAAGGA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58485143	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 NA18522.hp1 HG03098.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0009g0041 a0001c0001t0001g0006 a0001c0001t0009g0041	3	99	0.0303	12	c.50- others(29): Show c.50-14408_50-14397dupGTGTGTGTGTGT	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCDD1_chr18_10449635_10494949	10459316	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 NA21309.hp1 HG02145.hp1 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0006 a0001c0001t0010 a0001c0004t0006	a0001c0001t0010g0164 a0001c0004t0006g0165 a0001c0004t0006g0251 a0001c0001t0010g0164 a0001c0004t0006g0165 a0001c0004t0006g0251	3	159	0.0189	12	c.58+ others(27): Show c.58+4290_58+4301dupCACACACACACA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10464311	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 HG02129.hp1 others(25): Show HG01361.hp1 HG02071.hp2 HG02129.hp1 HG02165.hp2 HG02280.hp1 HG02602.hp1 HG02630.hp2 HG02735.hp2 HG03041.hp1 HG03704.hp1 NA18939.hp1 NA18947.hp2 NA18950.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18990.hp2 NA18998.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19076.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0036	a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0067 others(19): Show a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0067 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0197 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0010g0105 a0001c0002t0001g0050 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0227 a0001c0002t0003g0020 a0001c0002t0003g0092 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0005g0032 a0001c0002t0005g0104 a0001c0002t0005g0147 a0001c0002t0005g0302 a0001c0002t0036g0183	28	161	0.1739	12	c.59- others(27): Show c.59-4136_59-4125dupCACACACACACA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10464343	C C	CACACACA others(5): Show CACACACACACAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	399	0.0025	12	c.59- others(27): Show c.59-4125_59-4124insCACACACACAGA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APC_chr5_112732885_112851239	112806552	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0031 a0001c0002t0004g0026 a0001c0002t0004g0031	2	147	0.0136	12	c.834 others(29): Show c.834+5200_834+5211dupTATTTATTTATT	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TTCCCCCC others(5): Show TTCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	87	0.0115	12	c.195 others(31): Show c.1958+1000_1958+1001insTCCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15			chr5	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01123.hp1 others(44): Show HG00544.hp2 HG00733.hp2 HG01123.hp1 HG01168.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02280.hp1 HG02717.hp1 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18963.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18995.hp2 NA19000.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp2 NA19079.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0002t0001g0006 a0002c0003t0001g0001	47	81	0.5802	12	c.-13 others(23): Show c.-1315_-1314insTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APEH_chr3_49669351_49688971	49673801	C C	CCTCACGC others(5): Show CCTCACGCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG02257.hp1 others(14): Show HG00738.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02698.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp1 HG03471.hp1 NA18972.hp2 NA19003.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0002t0001g0002 a0001c0002t0001g0017 a0003c0005t0001g0003	17	206	0.0825	12	c.-60 others(21): Show c.-601_-600insCTCACGCTCACG	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		549		chr3	TogoVar
APELA_chr4_164872178_164902527	164873342	A A	AGAAGGAA others(5): Show AGAAGGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA19056.hp2 NA18747.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0008 a0001c0001t0001g0078	2	121	0.0165	12	c.-39 others(23): Show c.-3990_-3989insGAAGGAAAGAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3835		chr4	TogoVar
APELA_chr4_164872178_164902527	164873342	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(40): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01243.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02300.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18965.hp1 NA18970.hp1 NA18991.hp2 NA19030.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0198 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0002g0058 a0001c0001t0002g0091 a0001c0001t0002g0183 a0001c0001t0002g0228 a0001c0001t0007g0037 a0001c0001t0007g0094 a0001c0001t0008g0093 a0001c0001t0014g0022 a0001c0001t0014g0225 a0001c0001t0016g0065 a0001c0001t0021g0168 a0001c0002t0003g0011	43	162	0.2654	12	c.-39 others(23): Show c.-3990_-3989insGAAGGAAGGAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3835		chr4	TogoVar
APELA_chr4_164872178_164902527	164873345	A A	AGGAAGGA others(5): Show AGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	432	0.0023	12	c.-39 others(23): Show c.-3987_-3986insGGAAGGAAGGAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3832		chr4	TogoVar
APELA_chr4_164872178_164902527	164873400	A A	AAGGAAGG others(5): Show AAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02145.hp1 HG02647.hp1 others(2): Show HG02056.hp2 HG02145.hp1 HG02647.hp1 HG03130.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0002g0102 a0001c0001t0003g0106 others(2): Show a0001c0001t0002g0038 a0001c0001t0002g0102 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0115	5	388	0.0129	12	c.-39 others(23): Show c.-3932_-3931insAGGAAGGAAGGG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3777		chr4	TogoVar
APELA_chr4_164872178_164902527	164873400	A A	AAGGAAGG others(5): Show AAGGAAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19057.hp1 NA19005.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0109 a0001c0001t0002g0005 a0001c0001t0002g0109	2	385	0.0052	12	c.-39 others(23): Show c.-3932_-3931insAGGAAGGGAGGG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3777		chr4	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01069.hp1 others(67): Show HG00280.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG02056.hp2 HG02074.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18977.hp1 NA18979.hp2 NA18989.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0003t0016	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0033 others(41): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0005 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0228 a0001c0001t0003g0027 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0221 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0006g0021 a0001c0001t0010g0233 a0001c0001t0014g0022 a0001c0001t0014g0225 a0001c0001t0015g0116 a0001c0001t0019g0223 a0001c0003t0016g0170	70	272	0.2574	12	c.77- others(25): Show c.77-708_77-697dupGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164878221	A A	AAAGAAAG others(5): Show AAAGAAAGAAAGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	432	0.0023	12	c.77- others(25): Show c.77-697_77-696insGAAAGAAAGTAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01891.hp1 others(16): Show HG00558.hp2 HG01070.hp1 HG01891.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02300.hp1 HG02559.hp2 HG02647.hp2 HG03927.hp2 NA18945.hp2 NA18975.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19054.hp2 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 others(6): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0030 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0143 a0001c0002t0002g0010 a0001c0002t0004g0160	19	162	0.1173	12	c.1+ others(27): Show c.1+5139_*1+5150dupAAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164893661	C C	CTTTTTCC others(5): Show CTTTTTCCATCCT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	432	0.0023	12	c.2- others(27): Show c.2-1752_*2-1741dupTTTCCATCCTTT	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APLF_chr2_68462585_68585162	68525742	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0041 others(9): Show a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053	12	69	0.1739	12	c.623 others(27): Show c.623-305_623-294dupTTTTTTTTTTTT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68565508	C C	CAGATAGA others(5): Show CAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0006 a0009c0008t0006 a0002c0002t0006 a0009c0008t0006	a0002c0002t0006g0162 a0009c0008t0006g0027 a0002c0002t0006g0162 a0009c0008t0006g0027	2	141	0.0142	12	c.128 others(31): Show c.1287-1824_1287-1823insGATAGATAGATA	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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