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
TBC1D22A_chr22_46757650_47180693	46941497	C C	CGGAATAT others(21): Show CGGAATATATATACGGAATATATATACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	93	0.0108	28	c.101 others(49): Show c.1015+29336_1015+29337insGGGAATATATATACGGAATATATA TACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941525	C C	CGGAATAT others(21): Show CGGAATATATATACGGAATATATATACAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	82	0.0122	28	c.101 others(49): Show c.1015+29392_1015+29419dupAGGGAATATATATACGGAATATAT ATAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47076355	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	98	0.0102	28	c.133 others(49): Show c.1330-35146_1330-35145insGTATATATATATATATATATATGT GTGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47127963	T T	TTCCCTCC others(21): Show TTCCCTCCACCCCACCCATCCCCCCATCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp2 HG02615.hp1 others(4): Show HG00558.hp2 HG02258.hp2 HG02615.hp1 HG02896.hp1 HG02965.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0086 a0001c0001t0007g0036 a0001c0001t0007g0100 others(4): Show a0001c0001t0001g0086 a0001c0001t0007g0036 a0001c0001t0007g0100 a0001c0001t0009g0013 a0001c0001t0009g0025 a0001c0001t0010g0106 a0001c0002t0001g0011	7	110	0.0636	28	c.142 others(49): Show c.1425+16409_1425+16436dupCCCCATCCTCCCTCCACCCCACCC ATCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47148588	C C	CTCCTCTC others(21): Show CTCCTCTCCTGGGGCCCTTCTCCCAGGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02717.hp2 others(1): Show HG01884.hp1 HG02622.hp1 HG02717.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0002g0099 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0002g0099 a0001c0001t0021g0103	4	112	0.0357	28	c.142 others(49): Show c.1426-24896_1426-24869dupCCCTTCTCCCAGGATTCCTCTCCT GGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176339	G G	GACGGGGT others(21): Show GACGGGGTGTGGGGTGTGCCCCTGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(16): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG01069.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02257.hp2 HG02895.hp2 HG03239.hp1 HG03453.hp1 NA18522.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 others(16): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0012g0054 a0001c0001t0013g0065 a0001c0002t0001g0001 a0003c0005t0001g0066 a0004c0007t0001g0064	19	112	0.1696	28	c.27 others(39): Show c.2713_*2714insACGGGGTGTGGGGTGTGCCCCTGTCCCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		647		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176340	A A	ACGGGGTG others(21): Show ACGGGGTGTGGGGTGTGCCCCTGTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	98	0.0102	28	c.27 others(39): Show c.2714_*2715insCGGGGTGTGGGGTGTGCCCCTGTCCCCG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		648		chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37267490	A A	AATATATA others(21): Show AATATATATATATACACTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG02723.hp2 HG01243.hp1 HG01361.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0034	3	209	0.0144	28	c.57- others(43): Show c.57-2095_57-2094insTATACACTATATATATAATATATATATA	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22B_chr6_37252772_37337970	37285315	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02109.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0045 a0001c0004t0002g0055 a0001c0004t0002g0045 a0001c0004t0002g0055	2	33	0.0606	28	c.801 others(43): Show c.801+878_801+879insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	203	0.0049	28	c.31 others(39): Show c.3182_*3183insAAAAAAAAAAAAAAAAATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	203	0.0049	28	c.31 others(39): Show c.3182_*3183insAAAAAAAAAAAAAAATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(21): Show GCGCGCGCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 NA18906.hp2 HG02630.hp1 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0051 a0001c0002t0016g0052 a0001c0002t0016g0068 a0001c0002t0016g0051 a0001c0002t0016g0052 a0001c0002t0016g0068	3	39	0.0769	28	c.74 others(39): Show c.7488_*7489insTGTGTGTGTGTGTGTGTGTGTGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(21): Show GCGCGCGCGCGCGCGCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0214 a0002c0003t0001g0214	1	37	0.0270	28	c.74 others(39): Show c.7488_*7489insTGTGTGTGTGTGTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	C C	CCCCCCCA others(21): Show CCCCCCCACTCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	230	0.0043	28	c.52 others(39): Show c.5297_*5298insAGTGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2122		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992889	T T	TCCCCCCA others(21): Show TCCCCCCACTCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0001 a0003c0004t0005g0001	1	249	0.0040	28	c.52 others(39): Show c.5270_*5271insGAGTGGGGGGAGTGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2095		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77993129	C C	CCCCTACG others(21): Show CCCCTACGCCCTACGCCCTACGCCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03831.hp1 HG06807.hp1 others(1): Show HG02698.hp1 HG03831.hp1 HG06807.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0038 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0038 a0001c0001t0041 a0001c0002t0019	a0001c0001t0002g0127 a0001c0001t0038g0175 a0001c0001t0041g0133 others(1): Show a0001c0001t0002g0127 a0001c0001t0038g0175 a0001c0001t0041g0133 a0001c0002t0019g0044	4	155	0.0258	28	c.50 others(39): Show c.5030_*5031insCGTAGGGCGTAGGGCGTAGGGCGTAGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		1855		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp1 HG02895.hp2 others(2): Show HG01255.hp1 HG02257.hp1 HG02895.hp2 HG03654.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0007 a0001c0001t0030 a0001c0002t0007	a0001c0001t0030g0109 a0001c0002t0007g0030 a0001c0002t0007g0031 others(2): Show a0001c0001t0030g0109 a0001c0002t0007g0030 a0001c0002t0007g0031 a0001c0002t0007g0032 a0001c0002t0007g0036	5	51	0.0980	28	c.683 others(45): Show c.683+4017_683+4044dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(21): Show GAAGAAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	47	0.0213	28	c.683 others(45): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTCCTTTCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00639.hp1 others(20): Show HG00323.hp2 HG00597.hp1 HG00639.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02135.hp2 HG02523.hp1 HG02738.hp2 HG02922.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19070.hp2 NA19087.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0004c0006	a0001c0001t0004 a0001c0001t0037 a0001c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0037 a0001c0002t0001 a0002c0003t0001 a0002c0003t0009 a0002c0003t0044 a0002c0014t0001 a0004c0006t0001	a0001c0001t0004g0155 a0001c0001t0004g0164 a0001c0001t0004g0165 others(19): Show a0001c0001t0004g0155 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0169 a0001c0001t0037g0154 a0001c0002t0001g0047 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0002c0003t0001g0008 a0002c0003t0001g0192 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0198 a0002c0003t0001g0202 a0002c0003t0001g0208 a0002c0003t0009g0258 a0002c0003t0009g0260 a0002c0003t0044g0220 a0002c0014t0001g0253 a0004c0006t0001g0207 a0004c0006t0001g0221	23	69	0.3333	28	c.683 others(45): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp1 NA18995.hp2 HG01975.hp2 HG02300.hp1 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0203 a0002c0003t0001g0212 a0002c0003t0001g0218 a0002c0003t0001g0203 a0002c0003t0001g0212 a0002c0003t0001g0218	3	49	0.0612	28	c.683 others(45): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0215 a0002c0003t0001g0215	1	47	0.0213	28	c.683 others(45): Show c.683+4044_683+4045insTCTTTCTTTCTTCCTTCCTTCCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATATA others(21): Show TATATATACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02809.hp2 others(8): Show HG01884.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0010 a0002c0002 a0002c0017 others(3): Show a0001c0010 a0002c0002 a0002c0017 a0003c0006 a0003c0029 a0004c0012	a0001c0010t0022 a0002c0002t0004 a0002c0002t0005 others(7): Show a0001c0010t0022 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0017t0004 a0003c0006t0001 a0003c0006t0018 a0003c0029t0003 a0004c0012t0028	a0001c0010t0022g0012 a0002c0002t0004g0122 a0002c0002t0004g0205 others(8): Show a0001c0010t0022g0012 a0002c0002t0004g0122 a0002c0002t0004g0205 a0002c0002t0005g0198 a0002c0002t0008g0194 a0002c0002t0010g0199 a0002c0017t0004g0201 a0003c0006t0001g0202 a0003c0006t0018g0204 a0003c0029t0003g0203 a0004c0012t0028g0011	11	144	0.0764	28	c.499 others(47): Show c.499-41453_499-41452insGTGTGTGTGTGTGTGTGTATGTATAT AT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17284089	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	26	0.0385	28	c.124 others(47): Show c.1245+7778_1245+7805dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17484455	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	64	0.0156	28	c.97+ others(45): Show c.97+23991_97+24018dupACACACACACACACACACACACACACAC	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG01261.hp1 others(16): Show HG00140.hp2 HG00609.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01981.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 NA18974.hp1 NA18989.hp1 NA18994.hp2 NA19065.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0001g0222 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0029 a0001c0001t0003g0080 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0004g0271 a0001c0001t0004g0274 a0001c0001t0004g0283	19	217	0.0876	28	c.520 others(45): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106872455	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 NA18522.hp1 others(1): Show HG02622.hp1 HG03486.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0027 others(1): Show a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0163	4	12	0.3333	28	c.296 others(47): Show c.2968-1109_2968-1082dupATATATATATATATATATATATATAT AT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBC1D9B_chr5_179857071_179912897	179907884	C C	CCGGAGCG others(21): Show CCGGAGCGGAGCGTGCGGAGCGGAGCGTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	342	0.0029	28	c.-64 others(35): Show c.-64_-63insCACGCTCCGCTCCGCACGCTCCGCTCCG	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	1/21	64		chr5	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01167.hp1 others(9): Show HG00099.hp2 HG00140.hp2 HG01167.hp1 HG01358.hp1 HG02258.hp1 HG02735.hp1 HG02896.hp2 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18990.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0017	a0001c0001t0001 a0001c0002t0001 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0005 a0001c0006t0001 a0001c0017t0001	a0001c0001t0001g0161 a0001c0002t0001g0174 a0001c0002t0001g0189 others(9): Show a0001c0001t0001g0161 a0001c0002t0001g0174 a0001c0002t0001g0189 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0227 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0004t0005g0266 a0001c0006t0001g0258 a0001c0017t0001g0159	12	56	0.2143	28	c.131 others(47): Show c.131-10836_131-10835insATATATATATATATATATATATATAT AT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCC_chr6_42739498_42751103	42743624	C C	CATTACTG others(21): Show CATTACTGTGCCATTGCATTTCCAGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	384	0.0026	28	c.14 others(39): Show c.1408_*1409insTGCTCTGGAAATGCAATGGCACAGTAAT	TBCC	ENSG00000124659.7	transcript	ENST00000372876.2	protein_coding		873		chr6	TogoVar
TBCD_chr17_82747065_82950914	82844206	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18944.hp2 NA18946.hp1 others(3): Show HG00544.hp2 NA18944.hp2 NA18946.hp1 NA18956.hp2 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0031 a0001c0001t0002g0262 a0001c0001t0006g0054 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0262 a0001c0001t0006g0054 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0002t0001g0066	6	21	0.2857	28	c.131 others(49): Show c.1319-26015_1319-25988dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0198 a0003c0004t0004g0198	1	187	0.0053	28	c.153 others(47): Show c.1534-2499_1534-2498insTGTGTGTGTGTGTGCGCGCGCGCGCG CG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82946569	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG01515.hp2 others(2): Show HG00733.hp1 HG01192.hp1 HG01515.hp2 HG03491.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0007 a0003c0004 a0001c0001 a0002c0007 a0003c0004	a0001c0001t0041 a0002c0007t0004 a0003c0004t0004 others(1): Show a0001c0001t0041 a0002c0007t0004 a0003c0004t0004 a0003c0004t0013	a0001c0001t0041g0022 a0002c0007t0004g0278 a0003c0004t0004g0188 others(2): Show a0001c0001t0041g0022 a0002c0007t0004g0278 a0003c0004t0004g0188 a0003c0004t0004g0200 a0003c0004t0013g0193	5	99	0.0505	28	c.41 others(39): Show c.4106_*4107insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		656		chr17	TogoVar
TBCE_chr1_235362427_235457443	235412214	T T	TCCCCTCC others(21): Show TCCCCTCCCCCTCCCCTCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	144	0.0069	28	c.186 others(45): Show c.186-2210_186-2209insCTCCCCTCCCCTCCCCCTCCCCCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235447893	T T	TACTTGGG others(21): Show TACTTGGGTAAAGTGACTTGGGTAAAGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0031 a0003c0004t0031	a0003c0004t0031g0016 a0003c0004t0031g0016	1	266	0.0038	28	c.140 others(45): Show c.1400-431_1400-430insGTGACTTGGGTAAAGTGACTTGGGTAAA	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	8	0.1250	28	c.-46 others(47): Show c.-46+15700_-46+15727dupTATATATATATATATATATATATATA TA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01993.hp1 HG02559.hp1 others(4): Show HG01106.hp1 HG01993.hp1 HG02559.hp1 HG02922.hp1 HG03139.hp1 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0048	a0001c0001t0002g0025 a0001c0001t0002g0052 a0001c0001t0006g0167 others(4): Show a0001c0001t0002g0025 a0001c0001t0002g0052 a0001c0001t0006g0167 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0012g0038 a0001c0001t0048g0070	7	14	0.5000	28	c.-46 others(47): Show c.-46+15727_-46+15728insTATATATATATATATATATATATATA AA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112074	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	234	0.0043	28	c.-12 others(49): Show c.-121-13561_-121-13534dupATATATATATATATATATATATAT ATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	161	0.0062	28	c.-12 others(49): Show c.-121-13567_-121-13566insAAAATATATATATATATATATATA TATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0026 a0001c0001t0042g0026	1	161	0.0062	28	c.-12 others(49): Show c.-121-13567_-121-13566insAAAAAATATATATATATATATATA TATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18995.hp1 HG01167.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0078 a0001c0001t0016g0212 a0001c0001t0002g0078 a0001c0001t0016g0212	2	162	0.0123	28	c.-12 others(49): Show c.-121-13567_-121-13566insAAAAAAAATATATATATATATATA TATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	161	0.0062	28	c.-12 others(49): Show c.-121-13567_-121-13566insAAAAAAAAAATATATATATATATA TATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATACATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18979.hp2 HG02015.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0112 a0001c0001t0009g0299 a0001c0001t0001g0112 a0001c0001t0009g0299	2	130	0.0154	28	c.-12 others(49): Show c.-121-36793_-121-36792insTATATATGTATACACACACACACA CACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTATACATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	129	0.0078	28	c.-12 others(49): Show c.-121-36793_-121-36792insTATATGTATACACACACACACACA CACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTATACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	129	0.0078	28	c.-12 others(49): Show c.-121-36793_-121-36792insTGTATACACACACACACACACACA CACA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177146589	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	88	0.0114	28	c.-12 others(49): Show c.-121-48049_-121-48048insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177189663	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0178 a0001c0001t0050g0178	1	304	0.0033	28	c.-12 others(47): Show c.-122+7457_-122+7458insCTTTTTTTTTTTTTTTTTTTTTTTTT TT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9479938	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0018 a0001c0006t0012 a0001c0003t0018 a0001c0006t0012	a0001c0003t0018g0199 a0001c0006t0012g0020 a0001c0003t0018g0199 a0001c0006t0012g0020	2	96	0.0208	28	c.-20 others(49): Show c.-201+14518_-201+14519insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9491306	T T	TTATTTAT others(21): Show TTATTTATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	161	0.0062	28	c.-20 others(49): Show c.-200-10471_-200-10470insTTATTTATATATATATATATATAT ATAT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9491338	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0132 a0001c0001t0041g0132	1	129	0.0078	28	c.-20 others(49): Show c.-200-10441_-200-10440insATATATATATATATATATATATTT TTTT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9665489	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18960.hp1 NA19091.hp1 HG03516.hp2 NA18960.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0088 a0001c0001t0001g0173 a0001c0001t0009g0197 a0001c0001t0001g0088 a0001c0001t0001g0173 a0001c0001t0009g0197	3	16	0.1875	28	c.211 others(47): Show c.211+11190_211+11217dupTATATATATATATATATATATATATA TA	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17		INFO_REALIGN_3_PRIME	chrX	TogoVar

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