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
TENM2_chr5_166974029_168269157	167445336	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0043 a0001c0010t0001g0043	1	10	0.1000	32	c.502 others(51): Show c.502+69864_502+69865insTATATATATATATATATATATATATA TAGAGA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168238213	G G	GAAGAAAA others(25): Show GAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0011 a0001c0028t0011	a0001c0028t0011g0042 a0001c0028t0011g0042	1	49	0.0204	32	c.552 others(51): Show c.5521-6207_5521-6206insAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30			chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01243.hp2 others(3): Show HG00738.hp1 HG01074.hp2 HG01243.hp2 NA18971.hp2 NA18984.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0002 a0001c0007t0004 a0001c0001t0001 a0001c0005t0002 a0001c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0005t0002g0062 a0001c0007t0004g0106	6	92	0.0652	32	c.511 others(51): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	24	0.0417	32	c.511 others(51): Show c.511+85921_511+85922insGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182432849	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02698.hp2 HG01975.hp1 HG02698.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0005c0031 a0001c0009 a0005c0031	a0001c0009t0001 a0005c0031t0008 a0001c0009t0001 a0005c0031t0008	a0001c0009t0001g0032 a0005c0031t0008g0015 a0001c0009t0001g0032 a0005c0031t0008g0015	2	25	0.0800	32	c.511 others(51): Show c.511+85936_511+85937insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603765	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG03710.hp1 others(1): Show HG00738.hp1 HG01192.hp1 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0005t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0005t0002 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0005t0002g0040 a0001c0008t0001g0080 others(1): Show a0001c0001t0001g0001 a0001c0005t0002g0040 a0001c0008t0001g0080 a0001c0009t0001g0014	4	123	0.0325	32	c.749 others(49): Show c.749+2605_749+2606insTTATATATATATATATATATATATATAT ATAT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp2 HG03579.hp1 others(1): Show HG01433.hp1 HG02976.hp2 HG03579.hp1 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0012 others(1): Show a0001c0002 a0001c0010 a0001c0012 a0001c0027	a0001c0002t0001 a0001c0010t0002 a0001c0012t0002 others(1): Show a0001c0002t0001 a0001c0010t0002 a0001c0012t0002 a0001c0027t0002	a0001c0002t0001g0043 a0001c0010t0002g0130 a0001c0012t0002g0120 others(1): Show a0001c0002t0001g0043 a0001c0010t0002g0130 a0001c0012t0002g0120 a0001c0027t0002g0005	4	60	0.0667	32	c.749 others(49): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA CACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182603784	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	57	0.0175	32	c.749 others(49): Show c.749+2624_749+2625insTATATATATATATATATATATATATATA TACA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182621704	A A	ATATGTAT others(25): Show ATATGTATTATATATAAAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01169.hp2 HG01192.hp2 others(4): Show HG00673.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG06807.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0015 others(1): Show a0001c0003 a0001c0008 a0001c0015 a0001c0016	a0001c0003t0002 a0001c0008t0001 a0001c0015t0001 others(1): Show a0001c0003t0002 a0001c0008t0001 a0001c0015t0001 a0001c0016t0001	a0001c0003t0002g0035 a0001c0003t0002g0078 a0001c0008t0001g0011 others(4): Show a0001c0003t0002g0035 a0001c0003t0002g0078 a0001c0008t0001g0011 a0001c0015t0001g0018 a0001c0015t0001g0076 a0001c0016t0001g0093 a0001c0016t0001g0094	7	140	0.0500	32	c.750 others(49): Show c.750-6947_750-6946insTATGTATTATATATAAAATATATAATAT ATAT	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	4/27			chr4	TogoVar
TENM4_chr11_78647829_79446030	79139777	A A	AATATATA others(25): Show AATATATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0091 a0001c0007t0018g0091	1	67	0.0149	32	c.-66 others(49): Show c.-66+8932_-66+8933insATTATATATTTATATAAATATAATATAT ATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TATTATAT others(25): Show TATTATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0009 a0001c0002t0027g0009	1	49	0.0204	32	c.-66 others(49): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TAAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENT4B_chr16_50148306_50240310	50182891	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	46	0.0217	32	c.639 others(51): Show c.639-28401_639-28400insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENT5A_chr6_81740730_81757681	81748611	G G	GTGTATAT others(25): Show GTGTATATATACATATAAAATGTATATATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 NA18949.hp2 NA19055.hp1 HG04184.hp2 NA18949.hp2 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0038 a0003c0003t0018 a0001c0001t0038 a0003c0003t0018	a0001c0001t0038g0064 a0003c0003t0018g0033 a0001c0001t0038g0064 a0003c0003t0018g0033	3	444	0.0068	32	c.10 others(43): Show c.1052_*1083dupTTTTATATATACATTTTATATGTATATATACA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding	3/3	1083		chr6	TogoVar
TEP1_chr14_20360667_20418501	20387551	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04228.hp1 NA20905.hp2 HG03239.hp1 HG04228.hp1 NA20905.hp2	a0075 a0086 a0105 a0075 a0086 a0105	a0075c0062 a0086c0061 a0105c0142 a0075c0062 a0086c0061 a0105c0142	a0075c0062t0002 a0086c0061t0002 a0105c0142t0002 a0075c0062t0002 a0086c0061t0002 a0105c0142t0002	a0075c0062t0002g0229 a0086c0061t0002g0075 a0105c0142t0002g0196 a0075c0062t0002g0229 a0086c0061t0002g0075 a0105c0142t0002g0196	3	214	0.0140	32	c.268 others(49): Show c.2684+353_2684+354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TEP1	ENSG00000129566.13	transcript	ENST00000262715.10	protein_coding	18/54			chr14	TogoVar
TERT_chr5_1248167_1300068	1272643	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	384	0.0026	32	c.228 others(49): Show c.2287-364_2287-363insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272679	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0296 a0001c0020t0001g0296	1	377	0.0027	32	c.228 others(49): Show c.2287-400_2287-399insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272767	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18952.hp1 HG02027.hp2 HG02155.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0035 a0001c0002t0001g0045 a0001c0002t0001g0011 a0001c0002t0001g0035 a0001c0002t0001g0045	3	378	0.0079	32	c.228 others(49): Show c.2287-488_2287-487insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272891	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	381	0.0026	32	c.228 others(49): Show c.2287-612_2287-611insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272927	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02027.hp2 HG01261.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0168 a0001c0002t0001g0011 a0001c0001t0001g0168 a0001c0002t0001g0011	2	385	0.0052	32	c.228 others(49): Show c.2287-648_2287-647insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272946	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGACCCTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	106	0.0094	32	c.228 others(49): Show c.2287-667_2287-666insTAGGGTCTGATGTGTGGTGACTGTGGAT GGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	369	0.0027	32	c.228 others(49): Show c.2287-687_2287-686insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272987	A A	ACCATCCA others(25): Show ACCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	108	0.0093	32	c.228 others(49): Show c.2287-708_2287-707insCGTGGGGTCTGATGTGTGGTGACTGTGG ATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	378	0.0026	32	c.228 others(49): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273043	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18975.hp1 HG02132.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0046 a0001c0002t0001g0047	2	384	0.0052	32	c.228 others(49): Show c.2287-764_2287-763insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273120	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03688.hp1 NA18975.hp1 others(1): Show HG02273.hp2 HG03688.hp1 NA18975.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0020 a0001c0002 a0001c0003 a0001c0020	a0001c0002t0001 a0001c0003t0001 a0001c0020t0001 a0001c0002t0001 a0001c0003t0001 a0001c0020t0001	a0001c0002t0001g0022 a0001c0002t0001g0047 a0001c0003t0001g0284 others(1): Show a0001c0002t0001g0022 a0001c0002t0001g0047 a0001c0003t0001g0284 a0001c0020t0001g0296	4	376	0.0106	32	c.228 others(49): Show c.2287-841_2287-840insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273136	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18955.hp1 NA18967.hp2 others(2): Show HG01169.hp1 NA18955.hp1 NA18967.hp2 NA18999.hp1 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0003c0015t0001 a0001c0001t0001 a0003c0015t0001	a0001c0001t0001g0244 a0001c0001t0001g0311 a0001c0001t0001g0325 others(2): Show a0001c0001t0001g0244 a0001c0001t0001g0311 a0001c0001t0001g0325 a0001c0001t0001g0326 a0003c0015t0001g0112	5	378	0.0132	32	c.228 others(49): Show c.2287-857_2287-856insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACACATCA others(25): Show ACACATCAGACCCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	365	0.0027	32	c.228 others(49): Show c.2287-911_2287-910insACTGTGGATGGCGGTTGTGGGGGTCTGA TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273206	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02293.hp1 HG02004.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0238 a0001c0001t0001g0239	2	362	0.0055	32	c.228 others(49): Show c.2287-927_2287-926insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273226	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 NA19065.hp1 HG00099.hp2 HG00609.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0307 a0001c0001t0001g0321 a0001c0001t0001g0235 a0001c0001t0001g0307 a0001c0001t0001g0321	3	373	0.0080	32	c.228 others(49): Show c.2287-947_2287-946insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG01975.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01975.hp1 HG03239.hp2 HG03704.hp1 HG03710.hp1 NA18941.hp2 NA18971.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0002	a0001c0001t0001g0309 a0001c0001t0002g0346 a0001c0002t0001g0081 others(6): Show a0001c0001t0001g0309 a0001c0001t0002g0346 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0004t0001g0055 a0001c0010t0002g0104	9	373	0.0241	32	c.228 others(49): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273278	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18985.hp1 NA19068.hp1 others(1): Show NA18966.hp1 NA18985.hp1 NA19068.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0329 others(1): Show a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0329 a0001c0001t0001g0373	4	365	0.0110	32	c.228 others(49): Show c.2287-999_2287-998insTGTGGGGGTCTGATGTGACTGTGGATGG CGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 NA20905.hp1 HG02055.hp1 HG02258.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0172 a0001c0001t0004g0227 a0001c0001t0004g0231 a0001c0001t0001g0172 a0001c0001t0004g0227 a0001c0001t0004g0231	3	359	0.0084	32	c.228 others(51): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273348	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	371	0.0027	32	c.228 others(51): Show c.2287-1069_2287-1068insTGTGGGGGTCTGATGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00408.hp2 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0270 a0001c0002t0001g0040 a0001c0001t0001g0270 a0001c0002t0001g0040	2	372	0.0054	32	c.228 others(51): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	381	0.0026	32	c.228 others(51): Show c.2287-1159_2287-1158insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273479	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	384	0.0026	32	c.228 others(51): Show c.2287-1200_2287-1199insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(25): Show ACCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	129	0.0078	32	c.228 others(51): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273520	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02602.hp2 HG03710.hp1 others(2): Show HG02273.hp2 HG02602.hp2 HG03710.hp1 NA18975.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0271 a0001c0002t0001g0047 a0001c0003t0001g0253 others(2): Show a0001c0001t0001g0271 a0001c0002t0001g0047 a0001c0003t0001g0253 a0001c0003t0001g0281 a0001c0003t0001g0284	5	378	0.0132	32	c.228 others(51): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273570	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	373	0.0027	32	c.228 others(51): Show c.2287-1291_2287-1290insTGTGGGGGTCTGATGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273624	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp2 NA18948.hp1 NA18955.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0208 a0001c0006t0001g0212 a0001c0006t0001g0208 a0001c0006t0001g0212	2	383	0.0052	32	c.228 others(51): Show c.2287-1345_2287-1344insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273624	A A	ACATCAGA others(25): Show ACATCAGACCCTACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03831.hp2 NA18969.hp1 others(1): Show HG02040.hp1 HG03831.hp2 NA18969.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0001c0001t0001 a0001c0003t0001 a0001c0018t0001	a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0003t0001g0259 others(1): Show a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0003t0001g0259 a0001c0018t0001g0275	4	385	0.0104	32	c.228 others(51): Show c.2287-1345_2287-1344insGTGACTGTGGATGGCGGTCGTAGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	104	0.0096	32	c.228 others(51): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	373	0.0027	32	c.228 others(51): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	98	0.0102	32	c.228 others(51): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGTGGTGACTGTGG ATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESC_chr12_117033923_117104416	117075887	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	300	0.0033	32	c.59- others(45): Show c.59-548_59-547insCACACACACACATATATATATATATATATATA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESC_chr12_117033923_117104416	117075909	A A	ATGTGTGT others(25): Show ATGTGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	275	0.0036	32	c.59- others(45): Show c.59-570_59-569insCATATATATATATATATATATATATACACACA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESK2_chr1_45338883_45496163	45486818	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0283	1	264	0.0038	32	c.-87 others(49): Show c.-87+4033_-87+4034insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	1/10			chr1	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG01123.hp1 others(15): Show HG00408.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01975.hp1 HG01978.hp1 HG02148.hp2 HG02523.hp2 HG02683.hp1 HG02818.hp1 NA18944.hp1 NA18961.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0003t0001 a0001c0003t0018 a0001c0003t0080 a0002c0002t0001 a0002c0002t0036 a0002c0002t0076 a0002c0002t0078	a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0195 others(14): Show a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0195 a0001c0001t0007g0180 a0001c0001t0008g0177 a0001c0001t0010g0202 a0001c0001t0012g0208 a0001c0001t0014g0292 a0001c0003t0001g0019 a0001c0003t0018g0128 a0001c0003t0080g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0036g0076 a0002c0002t0076g0113 a0002c0002t0078g0115	18	122	0.1475	32	c.207 others(49): Show c.207-1130_207-1129insTATATATATATATATATATATATATACA CACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19005.hp1 HG01167.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0005 a0001c0003t0003 a0002c0002t0005	a0001c0003t0003g0140 a0002c0002t0005g0074 a0001c0003t0003g0140 a0002c0002t0005g0074	2	106	0.0189	32	c.207 others(49): Show c.207-1130_207-1129insTATATATATATATATATATATATACACA CACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01346.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0018 a0001c0002t0001g0152 a0001c0002t0001g0193	4	283	0.0141	32	c.28- others(47): Show c.28-5500_28-5499insTATATATATATATATATATATATATATATA AA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar

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