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
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02145.hp1 HG03491.hp2 others(3): Show HG02135.hp1 HG02145.hp1 HG03491.hp2 NA18982.hp1 NA19000.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0357 others(3): Show a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0357 a0001c0001t0002g0362 a0001c0001t0004g0364 a0001c0001t0010g0170	6	292	0.0205	30	c.-19 others(49): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32429046	G G	GGTCTCGC others(23): Show GGTCTCGCTCTGTCGCCCAGAGCGAGACCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp1 others(10): Show HG02055.hp2 HG02145.hp2 HG02486.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0024 others(1): Show a0001c0001 a0001c0002 a0001c0024 a0007c0026	a0001c0001t0001 a0001c0002t0001 a0001c0024t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0024t0001 a0007c0026t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(10): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0024t0001g0231 a0007c0026t0001g0082	13	344	0.0378	30	c.160 others(49): Show c.160+16059_160+16060insCCCTGTCTCGCTCTGTCGCCCAGAGC GAGA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVI2A_chr17_31311410_31326622	31322501	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	11	0.0909	30	c.-10 others(41): Show c.-1047_-1018dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EVI2A	ENSG00000126860.12	transcript	ENST00000462804.3	protein_coding		880		chr17	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	24	0.0417	30	c.-42 others(41): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX1_chr7_27237802_27252830	27252583	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	29	0.0345	30	c.61 others(41): Show c.6158_*6159insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	EVX1	ENSG00000106038.13	transcript	ENST00000496902.7	protein_coding		4754		chr7	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	106	0.0094	30	c.-64 others(39): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	208	0.0048	30	c.-95 others(39): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41213501	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03471.hp1 HG00099.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0026 a0001c0001t0004g0028 a0001c0001t0003g0026 a0001c0001t0004g0028	2	233	0.0086	30	c.447 others(47): Show c.447+2273_447+2274insCAAAACAAAACAAAACAAAACAAAACAA AA	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	6/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137329370	A A	AGCTACAC others(23): Show AGCTACACGGGACTACACGGGGCTACACGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0046 a0011c0012t0001g0046	1	50	0.0200	30	c.199 others(49): Show c.1999-5228_1999-5227insCCCGTGTAGCCCCGTGTAGTCCCGTG TAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329432	A A	AGCTACAC others(23): Show AGCTACACGGGACTACACGGGGCTACACGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	56	0.0179	30	c.199 others(49): Show c.1999-5290_1999-5289insCCCGTGTAGCCCCGTGTAGTCCCGTG TAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329628	T T	TACACGGG others(23): Show TACACGGGACTACACGGGGCTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	78	0.0128	30	c.199 others(49): Show c.1999-5486_1999-5485insGACCCCGTGTAGCCCCGTGTAGTCCC GTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329656	G G	GCTACACG others(23): Show GCTACACGGGACTACACAGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0022 a0016c0019t0001g0022	1	39	0.0256	30	c.199 others(49): Show c.1999-5514_1999-5513insTCCCGTGTGACCCTGTGTAGTCCCGT GTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137352506	T T	TTGATTTC others(23): Show TTGATTTCTAATTCTCAAGCCACTGGCGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0027 a0004c0004t0001g0027	1	80	0.0125	30	c.103 others(46): Show c.1037+84_1037+113dupTCACGCCAGTGGCTTGAGAATTAGAAATC A	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	11/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(23): Show ATTATATATAGATATATATATTATATATATC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	141	0.0071	30	c.238 others(49): Show c.2381-1676_2381-1675insGATATATATAATATATATATCTATAT ATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501441	A A	ATATATAT others(23): Show ATATATATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	244	0.0041	30	c.238 others(49): Show c.2381-1742_2381-1741insATATATATAGATATATATAATATATA TATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3_chr5_438176_472290	443220	G G	GGGCGGAG others(23): Show GGGCGGAGGGGGCGGAGGGGGCGGCGGGGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	376	0.0027	30	c.-12 others(39): Show c.-122_-121insAGGGGGCGGAGGGGGCGGCGGGGGCGGCGG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13	2980	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC4_chr7_133248078_134070761	133558191	C C	CTTTTCTT others(23): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01261.hp2 others(3): Show HG00140.hp2 HG01255.hp2 HG01261.hp2 HG02717.hp1 NA19030.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0004t0004	a0001c0001t0003g0004 a0001c0001t0003g0070 a0001c0002t0001g0008 others(3): Show a0001c0001t0003g0004 a0001c0001t0003g0070 a0001c0002t0001g0008 a0001c0003t0002g0006 a0001c0003t0002g0019 a0001c0004t0004g0082	6	97	0.0619	30	c.141 others(51): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTTCTTT TCTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133810591	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 HG01255.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0096 a0001c0002t0006g0065 a0001c0002t0006g0096	2	71	0.0282	30	c.151 others(49): Show c.1515-6731_1515-6730insATTTTATTTTATTTTATTTTATTTTA TTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855094	T T	TATATATA others(23): Show TATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02109.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0101 a0001c0002t0001g0063 a0001c0002t0001g0101	2	52	0.0385	30	c.173 others(51): Show c.1734+37557_1734+37558insAATATATATAAATATATATATAAA TATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855118	T T	TATATATA others(23): Show TATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02717.hp1 others(1): Show HG00639.hp1 HG02055.hp2 HG02717.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0007 a0001c0005t0011 others(1): Show a0001c0001t0003 a0001c0005t0007 a0001c0005t0011 a0001c0005t0012	a0001c0001t0003g0004 a0001c0005t0007g0025 a0001c0005t0011g0043 others(1): Show a0001c0001t0003g0004 a0001c0005t0007g0025 a0001c0005t0011g0043 a0001c0005t0012g0024	4	97	0.0412	30	c.173 others(51): Show c.1734+37581_1734+37582insAATATATATATAAATATATATAAA TATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857325	G G	GTATATAT others(23): Show GTATATATATATATATATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	58	0.0172	30	c.173 others(51): Show c.1735-38254_1735-38253insCACGTATATATATATATATATATA TATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	48	0.0208	30	c.220 others(49): Show c.2206+3753_2206+3782dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03225.hp1 NA19010.hp1 HG00735.hp2 HG03225.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0004 a0001c0002t0004 a0001c0003t0004	a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0003t0004g0094 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0003t0004g0094	3	88	0.0341	30	c.219 others(51): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA TATACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	86	0.0116	30	c.219 others(51): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA CACACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72353349	G G	GTTGTATT others(23): Show GTTGTATTGTATTGTATTGTATTGTATTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	60	0.0167	30	c.212 others(51): Show c.2123-18359_2123-18330dupTACAATACAATACAATACAATACA ATACAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(46): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02922.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp1 NA18939.hp1 NA18954.hp1 NA18959.hp1 NA18974.hp1 NA18984.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA19074.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0014t0001g0046	49	189	0.2593	30	c.248 others(47): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCTCACACACACAC AC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG01517.hp2 others(9): Show HG00741.hp1 HG01515.hp1 HG01517.hp2 HG02258.hp2 HG02486.hp1 HG02698.hp2 HG02735.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0116	12	152	0.0789	30	c.248 others(47): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC AC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	141	0.0071	30	c.248 others(47): Show c.2488+314_2488+315insTCTCTCTCTCTCACACACACACACACAC AC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG02723.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0120 a0001c0001t0001g0003 a0001c0001t0001g0120	4	180	0.0222	30	c.-38 others(41): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0002 a0022c0020t0002	a0022c0020t0002g0021 a0022c0020t0002g0021	1	258	0.0039	30	c.444 others(47): Show c.444-4183_444-4182insAAAATATATATATATATATATATATATA TA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108573168	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0044	1	310	0.0032	30	c.119 others(49): Show c.119+20220_119+20249dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0010 a0001c0002t0028g0010	1	69	0.0145	30	c.963 others(49): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	A A	AAGAAGAG others(23): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	77	0.0130	30	c.962 others(49): Show c.962+36423_962+36452dupCTTCTCTTCTCTTCTCTTCTCTTCTC TTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0176 a0001c0001t0012g0176	1	40	0.0250	30	c.-26 others(41): Show c.-2650_-2649insTATATATATATATATATATAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0047 a0001c0002t0035g0047	1	149	0.0067	30	c.743 others(47): Show c.743+4869_743+4870insTATATATATATATATATATATATATACA CA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA2_chr20_46889843_47193844	46986388	G G	GATATATA others(23): Show GATATATAATATATAGATCTATATAATATCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01070.hp1 others(37): Show HG00438.hp1 HG00735.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG02257.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp2 NA18944.hp1 NA18963.hp1 NA18977.hp1 NA18990.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19066.hp2 NA19082.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0013t0001 a0003c0006t0002 a0003c0006t0003	a0001c0001t0001g0038 a0001c0001t0001g0094 a0001c0001t0001g0149 others(37): Show a0001c0001t0001g0038 a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0180 a0001c0001t0002g0208 a0001c0001t0002g0232 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0058 a0001c0001t0003g0070 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0002t0001g0030 a0001c0002t0001g0101 a0001c0002t0001g0129 a0001c0002t0001g0162 a0001c0002t0001g0184 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0003t0002g0056 a0001c0003t0002g0186 a0001c0003t0002g0226 a0001c0003t0003g0045 a0001c0003t0003g0111 a0001c0004t0001g0001 a0001c0004t0001g0121 a0001c0004t0001g0125 a0001c0013t0001g0029 a0003c0006t0002g0167 a0003c0006t0003g0165	40	236	0.1695	30	c.-10 others(47): Show c.-10-3605_-10-3576dupATATATAGATCTATATAATATCTATATA TA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46986392	T T	TATAATAT others(23): Show TATAATATATAGATCTATATAATATCTATAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	236	0.0042	30	c.-10 others(47): Show c.-10-3580_-10-3579insGATAATATATAGATCTATATAATATCTA TA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46986403	G G	GATCTATA others(23): Show GATCTATATAATATCTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02647.hp2 others(1): Show HG01891.hp1 HG02622.hp1 HG02647.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0002t0001g0004 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0002t0001g0004 a0001c0009t0001g0095	4	151	0.0265	30	c.-10 others(47): Show c.-10-3576_-10-3575insATATATAAATCTATATAATATCTATATA TA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACACTCT others(23): Show GACACTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	142	0.0070	30	c.-10 others(47): Show c.-10-2085_-10-2084insACACTCTCTCTCTCTCTCTCTCTCTCTC TC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	100	0.0100	30	c.-10 others(47): Show c.-10-2036_-10-2035insCTCTCTCTATATATATATATATATATAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0099 a0004c0011t0001g0099	1	100	0.0100	30	c.-10 others(47): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATATATAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	100	0.0100	30	c.-10 others(47): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	100	0.0100	30	c.-10 others(47): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTATAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	100	0.0100	30	c.-10 others(47): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTCTATAT others(23): Show TTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	346	0.0029	30	c.-68 others(49): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA TAGA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02896.hp2 HG02976.hp2 others(2): Show HG02135.hp1 HG02896.hp2 HG02976.hp2 HG03834.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0093 a0001c0001t0001g0202 a0001c0001t0004g0339 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0202 a0001c0001t0004g0339 a0001c0001t0004g0382 a0001c0001t0004g0388	5	102	0.0490	30	c.-68 others(49): Show c.-68-15034_-68-15033insAATATATATATATATATATATATATA TATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	98	0.0102	30	c.-68 others(49): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATATA TATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 NA21309.hp2 HG01891.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0027	3	100	0.0300	30	c.-68 others(49): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	98	0.0102	30	c.-68 others(49): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA TATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	166	0.0060	30	c.-65 others(47): Show c.-65-1599_-65-1598insTATATATATATATATATATATATATATA TA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

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