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
TBC1D16_chr17_79927343_80040872	80024107	G G	GCAGCTCC others(23): Show GCAGCTCCGGGCCAGACGGTCCTGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00741.hp2 others(38): Show HG00280.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01192.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03710.hp2 HG04199.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA19000.hp2 NA19007.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0002c0011 a0007c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0073 a0001c0001t0090 a0001c0002t0013 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0043 a0001c0003t0046 a0001c0003t0093 a0001c0004t0002 a0001c0004t0019 a0001c0004t0059 a0001c0006t0001 a0001c0008t0094 a0001c0009t0002 a0001c0010t0083 a0001c0014t0086 a0002c0011t0016 a0007c0016t0056	a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0003g0164 others(37): Show a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0003g0164 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0007g0153 a0001c0001t0007g0192 a0001c0001t0007g0210 a0001c0001t0008g0197 a0001c0001t0009g0307 a0001c0001t0012g0201 a0001c0001t0016g0224 a0001c0001t0020g0217 a0001c0001t0021g0295 a0001c0001t0030g0202 a0001c0001t0031g0200 a0001c0001t0073g0163 a0001c0001t0090g0193 a0001c0002t0013g0001 a0001c0003t0002g0177 a0001c0003t0002g0187 a0001c0003t0002g0218 a0001c0003t0002g0223 a0001c0003t0003g0186 a0001c0003t0003g0188 a0001c0003t0006g0157 a0001c0003t0043g0189 a0001c0003t0046g0190 a0001c0003t0093g0216 a0001c0004t0002g0196 a0001c0004t0019g0211 a0001c0004t0059g0156 a0001c0006t0001g0185 a0001c0008t0094g0306 a0001c0009t0002g0180 a0001c0010t0083g0323 a0001c0014t0086g0198 a0002c0011t0016g0191 a0002c0011t0016g0199 a0007c0016t0056g0155	41	332	0.1235	30	c.-62 others(49): Show c.-62-10528_-62-10499dupGGCCGGGCAGGACCGTCTGGCCCGGA GCTG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80037690	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0062 a0001c0004t0004g0062	1	108	0.0093	30	c.-19 others(41): Show c.-1959_-1958insATATATATATATATATATATATATATATAT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		1819		chr17	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTCC others(23): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03579.hp2 HG01109.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0198 a0001c0001t0003g0199	2	9	0.2222	30	c.481 others(47): Show c.481-2591_481-2562dupCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19012.hp2 HG03486.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0003g0196 a0001c0001t0001g0021 a0001c0001t0003g0196	2	9	0.2222	30	c.481 others(47): Show c.481-2605_481-2604insTCTTCTTCTTCTCCTTCTCCTTCTCCTT CT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00733.hp2 others(2): Show HG00323.hp1 HG00733.hp1 HG00733.hp2 HG01517.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0081 a0001c0001t0001g0181 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0005t0001g0103 a0001c0005t0001g0104	5	12	0.4167	30	c.481 others(47): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp1 HG03471.hp1 HG00642.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0033 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0001t0001g0033 a0001c0001t0008g0148 a0001c0001t0008g0209	3	10	0.3000	30	c.481 others(47): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTTCTCCTT CT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26673446	T T	TATATATA others(23): Show TATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03017.hp1 HG03491.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0114 a0003c0008t0006g0115 a0003c0008t0006g0114 a0003c0008t0006g0115	2	36	0.0556	30	c.704 others(45): Show c.704-329_704-328insTATATATATATATACACACACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	38050913	T T	TCCCCCCC others(23): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0026 a0026	a0026c0045 a0026c0045	a0026c0045t0002 a0026c0045t0002	a0026c0045t0002g0189 a0026c0045t0002g0189	1	308	0.0032	30	c.191 others(47): Show c.1911-983_1911-982insCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D20_chr20_430480_467533	453153	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	34	0.0294	30	c.71- others(45): Show c.71-5109_71-5080dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding	1/7			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47076341	G G	GTATATAT others(23): Show GTATATATATATATGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	112	0.0089	30	c.133 others(51): Show c.1330-35146_1330-35145insGTATATATATATATATATATATGT GTGTGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47076355	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0103 a0001c0001t0021g0103	1	98	0.0102	30	c.133 others(51): Show c.1330-35146_1330-35145insGTATATATATATATATATATATAT GTGTGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37285315	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0056 a0001c0004t0002g0056	1	32	0.0313	30	c.801 others(45): Show c.801+878_801+879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D26_chr17_15727283_15749782	15731622	A A	AGGCCTGG others(23): Show AGGCCTGGTCAGTGGGGGCCTGGTCAGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	457	0.0022	30	c.-90 others(39): Show c.-905_-904insGGCCTGGTCAGTGGGGGCCTGGTCAGTGGG	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		660		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0070 a0001c0002t0025g0070	1	37	0.0270	30	c.74 others(41): Show c.7488_*7489insTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0202 a0002c0003t0001g0202	1	37	0.0270	30	c.74 others(41): Show c.7488_*7489insTGTGTGTGTGTGTGTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992795	G G	GCCCCCCC others(23): Show GCCCCCCCCCACTCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	89	0.0112	30	c.53 others(41): Show c.5364_*5365insAGTGGGGGGAGTGGGGGGAGTGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2189		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992795	G G	GCCCCCCC others(23): Show GCCCCCCCCCACTCCCCCCACTCCCCCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	89	0.0112	30	c.53 others(41): Show c.5364_*5365insGGGCGGGGGAGTGGGGGGAGTGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2189		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(23): Show TCCCCCCACTCCCCCCACTCCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(16): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG01069.hp1 HG01168.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02300.hp1 HG02523.hp2 HG03492.hp2 HG03834.hp2 HG04228.hp2 NA18939.hp2 NA18979.hp2 NA18995.hp2 NA19067.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0002 a0002c0003t0001 a0004c0006t0001 a0001c0001t0002 a0002c0003t0001 a0004c0006t0001	a0001c0001t0002g0135 a0002c0003t0001g0008 a0002c0003t0001g0191 others(16): Show a0001c0001t0002g0135 a0002c0003t0001g0008 a0002c0003t0001g0191 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0223 a0002c0003t0001g0238 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0254 a0002c0003t0001g0256 a0004c0006t0001g0229	19	199	0.0955	30	c.53 others(41): Show c.5354_*5355insGGAGTGGGGGGGAGTGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(23): Show TCCCCCCCACTCCCCCCACTCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0235 a0002c0003t0033g0235	1	110	0.0091	30	c.52 others(41): Show c.5288_*5289insGGAGTGGGGGGAGTGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(23): Show TCCCCCCCACTCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA19009.hp2 HG00544.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0163 a0001c0001t0010g0167 a0001c0001t0004g0163 a0001c0001t0010g0167	2	111	0.0180	30	c.52 others(41): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0201 a0002c0003t0001g0201	1	47	0.0213	30	c.683 others(47): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTCTTC TT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121085242	C C	CATACGTA others(23): Show CATACGTATATATATACACATATATACATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0041 a0003c0004t0003g0041	1	253	0.0040	30	c.365 others(49): Show c.3655-4382_3655-4353dupATATGTATATATGTGTATATATATAC GTAT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	31/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121192066	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0216 a0001c0003t0008g0216	1	89	0.0112	30	c.257 others(51): Show c.2570+13008_2570+13009insTATATATATATATATATATATATA TATATA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0225 a0001c0003t0021g0225	1	245	0.0041	30	c.248 others(49): Show c.2482-8362_2482-8361insTATTTTATTTATTTTATTTTATTTTA TTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(23): Show TAAAATAAAATAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0232 a0001c0003t0025g0232	1	245	0.0041	30	c.248 others(49): Show c.2482-8362_2482-8361insTATTTTATTTTATTTTATTTATTTTA TTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D4_chr13_75278503_75487169	75343503	G G	GTTTATTT others(23): Show GTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0004 a0002c0017t0004	a0002c0017t0004g0149 a0002c0017t0004g0149	1	207	0.0048	30	c.140 others(49): Show c.1409-1917_1409-1916insATAAAATAAAATAAAATAAAATAAAA TAAA	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	5/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATATA others(23): Show TATATATACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0200 a0002c0002t0010g0200	1	134	0.0075	30	c.499 others(49): Show c.499-41453_499-41452insGTGTGTGTGTGTGTGTGTGTATGTAT ATAT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG02559.hp1 others(4): Show HG00280.hp1 HG00642.hp2 HG02559.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0002t0001 a0002c0004t0006 a0001c0001t0003 a0001c0002t0001 a0002c0004t0006	a0001c0001t0003g0070 a0001c0001t0003g0092 a0001c0002t0001g0016 others(1): Show a0001c0001t0003g0070 a0001c0001t0003g0092 a0001c0002t0001g0016 a0002c0004t0006g0123	7	205	0.0341	30	c.520 others(47): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106872455	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	9	0.1111	30	c.296 others(49): Show c.2968-1111_2968-1082dupATATATATATATATATATATATATAT ATAT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG02145.hp2 others(16): Show HG01169.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 NA18941.hp2 NA18948.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0005	a0001c0001t0001g0204 a0001c0001t0006g0142 a0001c0001t0014g0284 others(16): Show a0001c0001t0001g0204 a0001c0001t0006g0142 a0001c0001t0014g0284 a0001c0002t0001g0101 a0001c0002t0001g0181 a0001c0002t0001g0197 a0001c0002t0001g0210 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0243 a0001c0002t0003g0290 a0001c0002t0006g0099 a0001c0005t0001g0160 a0001c0006t0001g0030 a0001c0006t0001g0259 a0001c0008t0001g0180 a0001c0008t0001g0184 a0001c0008t0005g0179	19	63	0.3016	30	c.131 others(49): Show c.131-10836_131-10835insATATATATATATATATATATATATAT ATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCB_chr19_36110468_36130941	36126727	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	131	0.0076	30	c.94 others(39): Show c.945_*946insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding		787		chr19	TogoVar
TBCD_chr17_82747065_82950914	82844206	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	16	0.0625	30	c.131 others(51): Show c.1319-26017_1319-25988dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850128	T T	TTGCTGTT others(23): Show TTGCTGTTGGCTGTGCTGCTGTTGGCTGTGC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0313 a0002c0006t0003g0313	1	49	0.0204	30	c.131 others(51): Show c.1319-20094_1319-20093insCTGTTGGCTGTGCTGCTGTTGGCT GTGCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850167	C C	CCTGTGCT others(23): Show CCTGTGCTGCTGTTGCCTGTGCTGCTGTTGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02896.hp2 others(5): Show HG02615.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 NA18747.hp2 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0002c0012 a0001c0001 a0002c0011 a0002c0012	a0001c0001t0002 a0001c0001t0016 a0002c0011t0012 others(1): Show a0001c0001t0002 a0001c0001t0016 a0002c0011t0012 a0002c0012t0008	a0001c0001t0002g0317 a0001c0001t0016g0015 a0002c0011t0012g0161 others(5): Show a0001c0001t0002g0317 a0001c0001t0016g0015 a0002c0011t0012g0161 a0002c0011t0012g0163 a0002c0011t0012g0164 a0002c0011t0012g0165 a0002c0012t0008g0160 a0002c0012t0008g0162	8	44	0.1818	30	c.131 others(51): Show c.1319-20043_1319-20042insCCTGTGCTGCTGTTGGCTGTGCTG CTGTTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82850342	G G	GCTGTTGT others(23): Show GCTGTTGTTGGCTGTCCTGTTGTTGGCTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18951.hp1 NA19009.hp1 HG00738.hp1 NA18951.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0027 a0001c0001 a0001c0002 a0001c0027	a0001c0001t0002 a0001c0002t0002 a0001c0027t0001 a0001c0001t0002 a0001c0002t0002 a0001c0027t0001	a0001c0001t0002g0008 a0001c0002t0002g0072 a0001c0027t0001g0007 a0001c0001t0002g0008 a0001c0002t0002g0072 a0001c0027t0001g0007	3	188	0.0160	30	c.131 others(51): Show c.1319-19867_1319-19838dupCCTGTTGTTGGCTGTCCTGTTGTT GGCTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(23): Show TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20129.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0001 a0001c0001t0025 a0001c0002t0001	a0001c0001t0025g0020 a0001c0002t0001g0239 a0001c0001t0025g0020 a0001c0002t0001g0239	2	21	0.0952	30	c.153 others(49): Show c.1533+2469_1533+2498dupCTCCCCTCCCCTCCCCTCCCCTCCCC TCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0180 a0003c0004t0004g0180	1	187	0.0053	30	c.153 others(49): Show c.1534-2499_1534-2498insTGTGTGTGTGTGCGCGCGCGCGCGCG CGCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0175 a0003c0004t0013g0175	1	187	0.0053	30	c.153 others(49): Show c.1534-2499_1534-2498insTGTGTGTGTGTGTGTGCGCGCGCGCG CGCG	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(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01258.hp2 others(9): Show HG01081.hp2 HG01256.hp2 HG01258.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02602.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18999.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0004 a0003c0004t0013 a0004c0005t0004 a0003c0004t0004 a0003c0004t0013 a0004c0005t0004	a0003c0004t0004g0176 a0003c0004t0004g0178 a0003c0004t0004g0179 others(9): Show a0003c0004t0004g0176 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0185 a0003c0004t0004g0186 a0003c0004t0004g0191 a0003c0004t0004g0192 a0003c0004t0004g0201 a0003c0004t0013g0175 a0004c0005t0004g0125 a0004c0005t0004g0126	12	106	0.1132	30	c.41 others(41): Show c.4106_*4107insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding		656		chr17	TogoVar
TBCE_chr1_235362427_235457443	235412112	C C	CCTTCCCA others(23): Show CCTTCCCATCCCTTTCCCTTCCCATCCCTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	266	0.0038	30	c.186 others(47): Show c.186-2320_186-2319insTTCCCATCCCTTTCCCTTCCCATCCCTT TC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412169	C C	CCTCCCCT others(23): Show CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0130 a0001c0001t0013g0131 a0001c0001t0013g0130 a0001c0001t0013g0131	2	264	0.0076	30	c.186 others(47): Show c.186-2253_186-2252insCCTCCCCCCGTCCCCTCCTCTCCCCTCC CC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBL1XR1_chr3_177014344_177202482	177017422	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	82	0.0122	30	c.80 others(41): Show c.8075_*8076insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069784	A A	AAGGAAGG others(23): Show AAGGAAGGAAAGGAAGGAAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0168 a0001c0001t0049g0168	1	275	0.0036	30	c.-45 others(47): Show c.-45-4763_-45-4762insCCTTTCCTTCCTTTCCTTCCTTTCCTTC CT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	8	0.1250	30	c.-46 others(49): Show c.-46+15727_-46+15728insTATATATATATATATATATATATATA TATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0156 a0001c0001t0025g0180 a0001c0001t0002g0156 a0001c0001t0025g0180	2	9	0.2222	30	c.-46 others(49): Show c.-46+15727_-46+15728insTATATATATATATATATATATATATA TAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19074.hp2 HG06807.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0053 a0001c0001t0023g0047 a0001c0001t0002g0053 a0001c0001t0023g0047	2	162	0.0123	30	c.-12 others(51): Show c.-121-13567_-121-13566insAAAAAAAAAATATATATATATATA TATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	161	0.0062	30	c.-12 others(51): Show c.-121-13567_-121-13566insAAAAAAAAAAAAAATATATATATA TATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBX15_chr1_118878047_118993343	118893615	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 NA20300.hp1 HG02055.hp2 HG02723.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0025 a0001c0001t0035 a0003c0004t0005 a0001c0001t0025 a0001c0001t0035 a0003c0004t0005	a0001c0001t0025g0321 a0001c0001t0035g0340 a0003c0004t0005g0341 a0001c0001t0025g0321 a0001c0001t0035g0340 a0003c0004t0005g0341	3	340	0.0088	30	c.102 others(49): Show c.1024+5412_1024+5413insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	TBX15	ENSG00000092607.15	transcript	ENST00000369429.5	protein_coding	7/7			chr1	TogoVar
TBX19_chr1_168275877_168319426	168298822	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	323	0.0031	30	c.665 others(47): Show c.665+1039_665+1040insCCCTCCCTCCCTCCCTCCCTCCCTCTCT CT	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBX19_chr1_168275877_168319426	168298822	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCCCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 NA18947.hp2 others(2): Show HG01361.hp2 HG02071.hp2 NA18947.hp2 NA18968.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0246 a0001c0001t0001g0286 a0001c0001t0003g0029	5	327	0.0153	30	c.665 others(47): Show c.665+1039_665+1040insCCCTCCCTCCCTCCCTCCCTCTCTCTCT CT	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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