Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESR1_chr6_151802682_152108274	151899814	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp1 HG02895.hp1 others(8): Show HG00609.hp2 HG01891.hp1 HG02895.hp1 NA18906.hp2 NA18949.hp2 NA18954.hp2 NA18963.hp2 NA18995.hp2 NA19000.hp2 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0012t0008	a0001c0001t0001g0044 a0001c0001t0002g0042 a0001c0001t0002g0117 others(8): Show a0001c0001t0001g0044 a0001c0001t0002g0042 a0001c0001t0002g0117 a0001c0001t0003g0092 a0001c0001t0005g0032 a0001c0001t0005g0086 a0001c0001t0005g0167 a0001c0001t0011g0173 a0001c0001t0017g0122 a0001c0001t0026g0115 a0001c0012t0008g0017	11	248	0.0444	40	c.760 others(59): Show c.760+19074_760+19113dupCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGC	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG06807.hp1 HG06807.hp2 others(1): Show HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0001g0154 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0154 a0001c0001t0001g0204 a0001c0001t0003g0142	4	129	0.0310	40	c.123 others(57): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0108 a0001c0001t0012g0108	1	84	0.0119	40	c.850 others(57): Show c.850+2901_850+2902insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(33): Show GGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00597.hp2 others(13): Show HG00099.hp1 HG00140.hp2 HG00597.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01928.hp2 HG01952.hp1 HG02015.hp1 HG02148.hp2 NA18943.hp2 NA18960.hp2 NA18979.hp2 NA18985.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0067 a0001c0001t0001g0154 a0001c0001t0001g0199 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0154 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0003g0107 a0001c0001t0003g0196 a0001c0002t0001g0112 a0001c0002t0001g0192 a0001c0002t0001g0203 a0001c0002t0001g0282 a0001c0002t0002g0139 a0001c0002t0002g0180 a0001c0002t0002g0202	16	87	0.1839	40	c.590 others(57): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(33): Show GGGAAGGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0283 a0001c0003t0004g0283	1	72	0.0139	40	c.590 others(57): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCCTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ETFDH_chr4_158667296_158714623	158689636	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	67	0.0149	40	c.607 others(55): Show c.607-711_607-710insATATATATATATATATATATATATATATAT ATATATATTT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(33): Show GATATATATATTTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	250	0.0040	40	c.701 others(55): Show c.701+321_701+322insATATATATATATATATATATATATATATAA ATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGGAAA others(33): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp2 others(5): Show HG00438.hp1 HG00438.hp2 HG00621.hp2 HG02040.hp1 HG02129.hp1 HG02647.hp2 NA18997.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0031 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0031 a0001c0002t0003 a0001c0002t0009	a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0050 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0031g0063 a0001c0002t0003g0017 a0001c0002t0003g0051 a0001c0002t0003g0180 a0001c0002t0009g0070	8	68	0.1176	40	c.214 others(57): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGGAAA others(33): Show GAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	61	0.0164	40	c.214 others(57): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTCCCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGGAA others(33): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01123.hp2 others(20): Show HG00642.hp1 HG00642.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01433.hp2 HG01975.hp1 HG02148.hp2 HG03540.hp2 HG03704.hp1 HG04228.hp1 NA18944.hp2 NA18955.hp1 NA18959.hp2 NA18972.hp2 NA18984.hp1 NA19000.hp1 NA19001.hp2 NA19063.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0013 a0001c0004t0014	a0001c0001t0001g0036 a0001c0001t0001g0064 a0001c0001t0001g0246 others(20): Show a0001c0001t0001g0036 a0001c0001t0001g0064 a0001c0001t0001g0246 a0001c0001t0002g0097 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0282 a0001c0001t0005g0046 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0186 a0001c0001t0011g0264 a0001c0001t0016g0083 a0001c0002t0002g0039 a0001c0002t0002g0268 a0001c0002t0002g0277 a0001c0002t0003g0010 a0001c0002t0003g0040 a0001c0002t0003g0077 a0001c0002t0003g0247 a0001c0002t0008g0093 a0001c0002t0013g0278 a0001c0004t0014g0132	23	97	0.2371	40	c.214 others(57): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02523.hp1 HG00544.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	5	0.4000	40	c.-32 others(51): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	287	0.0035	40	c.-19 others(59): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVC2_chr4_5557439_5713559	5640230	A A	AATGAGTG others(33): Show AATGAGTGGGTGGATGAATGGATAGGTGCACAGATGATTGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0041 a0004c0005t0002g0041	1	290	0.0034	40	c.147 others(57): Show c.1470+244_1470+283dupCCAATCATCTGTGCACCTATCCATTCAT CCACCCACTCAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	10/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5808137	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCGTCTCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01168.hp1 others(15): Show HG00140.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01975.hp2 HG02809.hp2 HG03486.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0010 a0029 a0061	a0001c0004 a0001c0008 a0001c0009 others(9): Show a0001c0004 a0001c0008 a0001c0009 a0004c0006 a0004c0014 a0004c0090 a0004c0107 a0005c0024 a0006c0010 a0010c0035 a0029c0060 a0061c0087	a0001c0004t0002 a0001c0008t0011 a0001c0009t0008 others(9): Show a0001c0004t0002 a0001c0008t0011 a0001c0009t0008 a0004c0006t0017 a0004c0014t0008 a0004c0090t0011 a0004c0107t0011 a0005c0024t0008 a0006c0010t0008 a0010c0035t0002 a0029c0060t0035 a0061c0087t0017	a0001c0004t0002g0070 a0001c0008t0011g0148 a0001c0008t0011g0312 others(15): Show a0001c0004t0002g0070 a0001c0008t0011g0148 a0001c0008t0011g0312 a0001c0008t0011g0331 a0001c0009t0008g0295 a0001c0009t0008g0296 a0004c0006t0017g0239 a0004c0014t0008g0291 a0004c0014t0008g0299 a0004c0090t0011g0261 a0004c0107t0011g0159 a0005c0024t0008g0214 a0005c0024t0008g0219 a0005c0024t0008g0220 a0006c0010t0008g0094 a0010c0035t0002g0203 a0029c0060t0035g0005 a0061c0087t0017g0086	18	327	0.0550	40	c.256 others(55): Show c.2562-47_2562-46insGTCTCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTCC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5808141	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCGTCTCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0298 a0003c0001t0002g0298	1	251	0.0040	40	c.256 others(55): Show c.2562-43_2562-42insGTCTCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTCC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0097 a0001c0005t0001g0097	1	172	0.0058	40	c.43 others(51): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD3_chr9_137301896_137428162	137329012	G G	GTCACACG others(33): Show GTCACACGGGACTACACGGGGTCACACGGGACTACACGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0001 a0022c0030t0001	a0022c0030t0001g0015 a0022c0030t0001g0015	1	68	0.0147	40	c.199 others(59): Show c.1999-4870_1999-4869insTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329063	A A	ACTACACG others(33): Show ACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0017 a0027c0017	a0027c0017t0001 a0027c0017t0001	a0027c0017t0001g0007 a0027c0017t0001g0007	1	61	0.0164	40	c.199 others(59): Show c.1999-4921_1999-4920insCCCGTGTAGCTCCCGTGTAGCCCCGT GTAGCCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329548	T T	TACACGGG others(33): Show TACACGGGACTACACGGGACTACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	77	0.0130	40	c.199 others(59): Show c.1999-5406_1999-5405insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329738	C C	CACACGGG others(33): Show CACACGGGACTACACGGGGTCACACGGGACTACACGGGACT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0001 a0026c0035t0001	a0026c0035t0001g0040 a0026c0035t0001g0040	1	62	0.0161	40	c.199 others(59): Show c.1999-5596_1999-5595insAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	601962	G G	GTGCGAAT others(33): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01952.hp1 others(9): Show HG00099.hp2 HG01361.hp2 HG01952.hp1 HG02976.hp2 HG03017.hp2 HG03669.hp1 NA18747.hp1 NA18947.hp1 NA18973.hp1 NA19003.hp1 NA19012.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0019t0007	a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0109 others(9): Show a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0002g0104 a0001c0001t0004g0087 a0001c0001t0004g0101 a0001c0001t0004g0140 a0001c0001t0005g0089 a0001c0001t0006g0093 a0001c0001t0026g0269 a0001c0019t0007g0186	12	246	0.0488	40	c.743 others(57): Show c.743-2738_743-2737insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602202	G G	GTGCGAAT others(33): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0192 a0001c0018t0003g0192	1	253	0.0040	40	c.743 others(57): Show c.743-2978_743-2977insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(33): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0005 a0005c0014t0005	a0005c0014t0005g0306 a0005c0014t0005g0306	1	335	0.0030	40	c.-41 others(49): Show c.-416_-415insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding		333		chr19	TogoVar
EXOC4_chr7_133248078_134070761	133558189	C C	CTCTTTTC others(33): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG02647.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0018 a0001c0001t0003 a0001c0003t0018	a0001c0001t0003g0076 a0001c0003t0018g0058 a0001c0001t0003g0076 a0001c0003t0018g0058	2	41	0.0488	40	c.141 others(61): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855094	T T	TATATATA others(33): Show TATATATAAATATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	51	0.0196	40	c.173 others(61): Show c.1734+37557_1734+37558insAATATATATAAATATATATAAATA TATATATAAATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857257	A A	ATATATAT others(33): Show ATATATATATATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	99	0.0101	40	c.173 others(61): Show c.1735-38326_1735-38325insTACACGTATATATATATATACACG TATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72353349	G G	GTTGTATT others(33): Show GTTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG03579.hp2 others(4): Show HG02976.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0003t0010 a0001c0009t0005	a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0054 others(4): Show a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0003g0051 a0001c0001t0011g0037 a0001c0003t0010g0074 a0001c0009t0005g0048	7	66	0.1061	40	c.212 others(61): Show c.2123-18330_2123-18329insTACAATACAATACAATACAATACA ATACAATACAATACAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92974540	G G	GCTCGTCT others(33): Show GCTCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp1 HG00639.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	38	0.0526	40	c.195 others(57): Show c.1953+337_1953+338insTCTCCCTCTCCCTCGTCTCCCTCTCCCG TCTCCCTCTCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03098.hp2 others(1): Show HG02145.hp2 HG02922.hp2 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0208 a0001c0007t0001g0209 a0001c0007t0001g0210 others(1): Show a0001c0007t0001g0208 a0001c0007t0001g0209 a0001c0007t0001g0210 a0001c0007t0001g0212	4	144	0.0278	40	c.248 others(57): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCTCTCACACACAC ACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	141	0.0071	40	c.248 others(57): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC ACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(33): Show TATATATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	149	0.0067	40	c.743 others(57): Show c.743+4869_743+4870insTATATATACATATATATATATATATATA TATATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA1_chr8_71192433_71367069	71274928	G G	GCGAGCGA others(33): Show GCGAGCGAGAGAGAGAGAATGAGAGCGAGAGCACGAGAGCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18943.hp2 NA19009.hp1 others(3): Show HG02155.hp2 NA18943.hp2 NA19009.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0001 a0001c0003t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0004	a0001c0001t0005g0054 a0001c0002t0001g0047 a0001c0002t0001g0049 others(3): Show a0001c0001t0005g0054 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0110 a0001c0002t0001g0119 a0001c0003t0004g0050	6	114	0.0526	40	c.827 others(57): Show c.827-3032_827-3031insTGCTCTCGTGCTCTCGCTCTCATTCTCT CTCTCTCGCTCG	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	9/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	100	0.0100	40	c.-10 others(57): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(33): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp2 HG02896.hp2 HG02970.hp2	a0012 a0015 a0012 a0015	a0012c0016 a0015c0004 a0012c0016 a0015c0004	a0012c0016t0001 a0015c0004t0002 a0012c0016t0001 a0015c0004t0002	a0012c0016t0001g0003 a0015c0004t0002g0024 a0012c0016t0001g0003 a0015c0004t0002g0024	2	4	0.5000	40	c.202 others(61): Show c.2023+17831_2023+17832insAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
F2_chr11_46714213_46744506	46730796	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG03017.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0054 a0001c0004t0001g0051 a0001c0004t0001g0054	2	336	0.0060	40	c.165 others(59): Show c.1654+1238_1654+1239insATATATATATATATATATATATATAT ATATATATATGTAT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F7_chr13_113100791_113125685	113105036	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0023 a0002c0002t0009g0023	2	392	0.0051	40	c.-80 others(49): Show c.-806_-805insATATATATATATATATATATATATATATATATATAT ATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		754		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	71	0.0141	40	c.-80 others(49): Show c.-802_-801insAAAAATATATATATATATATATATATATATATATAT ATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(33): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19060.hp2 NA18984.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0017 a0001c0001t0011g0020 a0001c0001t0003g0017 a0001c0001t0011g0020	2	16	0.1250	40	c.126 others(61): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(33): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	15	0.0667	40	c.126 others(61): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp2 HG02135.hp2 others(1): Show HG00621.hp1 HG02132.hp2 HG02135.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 others(1): Show a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0042	4	143	0.0280	40	c.46- others(57): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19002.hp1 NA18956.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0041 a0001c0001t0011g0023 a0001c0001t0003g0041 a0001c0001t0011g0023	2	141	0.0142	40	c.46- others(57): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM104A_chr17_73202365_73237394	73224960	G G	GACAGCAC others(33): Show GACAGCACAGCACAGGACAGGACAGCACAGCACAGCACAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03704.hp2 NA18968.hp1 HG01070.hp2 HG03704.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0118	3	102	0.0294	40	c.321 others(57): Show c.321+2204_321+2205insGCTGTGCTGTGCTGTGCTGTCCTGTCCT GTGCTGTGCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM104A_chr17_73202365_73237394	73224960	G G	GACAGGAC others(33): Show GACAGGACAGCACAGCACAGGACAGGACAGCACAGCACAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	100	0.0100	40	c.321 others(57): Show c.321+2204_321+2205insGCTGTGCTGTGCTGTCCTGTCCTGTGCT GTGCTGTCCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	16	0.0625	40	c.411 others(59): Show c.411+36486_411+36487insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0153 a0001c0001t0029g0153	1	149	0.0067	40	c.411 others(57): Show c.411+7197_411+7198insCTCTCTCTCTCTCTATATATATATATAT ATATATATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006901	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	194	0.0052	40	c.-51 others(61): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATATATATATATAT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	145	0.0069	40	c.-51 others(61): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM111A_chr11_59137856_59160039	59141914	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0051 a0001c0002t0019g0051	1	134	0.0075	40	c.-15 others(51): Show c.-1560_-1559insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAA	FAM111A	ENSG00000166801.17	transcript	ENST00000675163.1	protein_coding		941		chr11	TogoVar
FAM114A1_chr4_38862806_38950739	38880095	A A	AAATAGAG others(33): Show AAATAGAGTAGAATAGAGTAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18999.hp1 NA19066.hp1 NA18978.hp1 NA18999.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0018 a0002c0003t0004 a0002c0003t0018	a0002c0003t0004g0130 a0002c0003t0018g0119 a0002c0003t0018g0129 a0002c0003t0004g0130 a0002c0003t0018g0119 a0002c0003t0018g0129	3	324	0.0093	40	c.348 others(57): Show c.348+1673_348+1674insGAGTAGAATAGAGTAGAATAGAATAGAA TAGAATAGAATA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM120C_chrX_54063324_54188254	54117354	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18980.hp2 HG02257.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0176 a0001c0001t0018g0177 a0001c0001t0011g0176 a0001c0001t0018g0177	2	27	0.0741	40	c.206 others(57): Show c.2063-600_2063-561dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar

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