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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TTC21B_chr2_165868362_165958776	165914657	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp2 HG00544.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0322 a0001c0001t0003g0176 a0001c0001t0001g0322 a0001c0001t0003g0176	2	125	0.0160	36	c.213 others(53): Show c.2138+508_2138+543dupCACACACACACACACACACACACACACA CACACACA		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165914680	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTACGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01167.hp2 others(16): Show HG00735.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02622.hp2 HG03209.hp1 HG03704.hp2 NA18947.hp2 NA18951.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA19000.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0002g0057 a0001c0001t0004g0033 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0068 a0001c0004t0003g0096 a0001c0004t0003g0101	19	337	0.0564	36	c.213 others(53): Show c.2138+520_2138+521insGCGCGCGCGCGCACGTACACACACACAC ACACACAC		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165914682	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0388 a0006c0015t0001g0388	1	402	0.0025	36	c.213 others(53): Show c.2138+518_2138+519insGCGCGCGCGCGCGCGCGCACACACACAC ACACACAC		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28						chr2	TogoVar
TTC21B_chr2_165868362_165958776	165947169	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp1 HG02080.hp2 others(10): Show HG00609.hp1 HG01255.hp1 HG02080.hp2 HG02630.hp2 HG02683.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03942.hp1 NA18989.hp2 NA19068.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0173 a0001c0001t0001g0342 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0005g0046 a0001c0001t0005g0099 a0001c0001t0020g0014	13	17	0.7647	36	c.263 others(53): Show c.263-1480_263-1479insATATATATATATATATATATATATATAT ATATATAT		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	3/28						chr2	TogoVar
TTC23_chr15_99131323_99254581	99148360	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0177 a0001c0001t0017g0177	1	6	0.1667	36	c.114 others(55): Show c.1143+7787_1143+7788insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	12/13						chr15	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp1 HG02257.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0013 a0002c0003t0002g0078 a0001c0001t0001g0013 a0002c0003t0002g0078	2	81	0.0247	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0144 a0002c0003t0002g0145	2	81	0.0247	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0146 a0002c0003t0002g0191 a0002c0003t0002g0146 a0002c0003t0002g0191	2	81	0.0247	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	80	0.0125	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0229 a0002c0003t0002g0229	1	80	0.0125	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(29): Show CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19062.hp2 NA18942.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0101 a0001c0002t0001g0037 a0001c0002t0001g0101	2	81	0.0247	36	c.123 others(57): Show c.1234-10097_1234-10096insCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28371590	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02165.hp2 HG03669.hp2 others(1): Show HG01074.hp1 HG02165.hp2 HG03669.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0013 a0001c0002t0007 a0001c0002t0031 others(1): Show a0001c0001t0013 a0001c0002t0007 a0001c0002t0031 a0001c0004t0001	a0001c0001t0013g0125 a0001c0002t0007g0118 a0001c0002t0031g0132 others(1): Show a0001c0001t0013g0125 a0001c0002t0007g0118 a0001c0002t0031g0132 a0001c0004t0001g0128	4	82	0.0488	36	c.382 others(55): Show c.382-64948_382-64947insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22						chr22	TogoVar
TTC28_chr22_27973014_28684840	28670704	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03017.hp2 HG03490.hp1 others(3): Show HG01943.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0154 a0001c0003t0002g0157 others(3): Show a0001c0003t0002g0150 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0159 a0001c0003t0002g0162 a0001c0003t0002g0164	6	139	0.0432	36	c.102 others(53): Show c.102+8917_102+8918insATATATATATATATATATATATATATAT ATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22						chr22	TogoVar
TTC29_chr4_146701617_146950864	146708308	T T	TTATATAT others(29): Show TTATATATATATATATATATACATGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0289 a0006c0006t0003g0289	1	185	0.0054	36	c.133 others(53): Show c.1331-758_1331-757insTACACACACATACATGTATATATATATA TATATATA		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12						chr4	TogoVar
TTC29_chr4_146701617_146950864	146708340	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	277	0.0036	36	c.133 others(53): Show c.1331-790_1331-789insCACACATGTATATATATATATATATATA TATATATA		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12						chr4	TogoVar
TTC39B_chr9_15158622_15312216	15266255	T T	TTAAAAAA others(29): Show TTAAAAAAATCCCAATCACAATTAAGTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0180 a0001c0001t0081g0180	1	243	0.0041	36	c.77+ others(51): Show c.77+1658_77+1659insTAAAAAAAAAACTTAATTGTGATTGGGATT TTTTTA		TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	2/19						chr9	TogoVar
TTC5_chr14_20281227_20310951	20300143	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19076.hp2 NA19078.hp2 NA18978.hp2 NA19076.hp2 NA19078.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0045 a0002c0004t0004g0092 a0002c0004t0004g0045 a0002c0004t0004g0092	3	96	0.0313	36	c.396 others(51): Show c.396+463_396+464insTATATATATATATATATATATATATATATA TATATA		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9						chr14	TogoVar
TTC5_chr14_20281227_20310951	20300143	G G	GTATGTGT others(29): Show GTATGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0080 a0001c0002t0017g0080	1	94	0.0106	36	c.396 others(51): Show c.396+463_396+464insTATATATATATATATATATATATATACACA CACATA		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9						chr14	TogoVar
TTC7B_chr14_90519564_90821430	90780470	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA20805.hp1 HG02683.hp1 NA20805.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0023 a0001c0007t0034 a0001c0006t0023 a0001c0007t0034	a0001c0006t0023g0147 a0001c0007t0034g0042 a0001c0006t0023g0147 a0001c0007t0034g0042	2	128	0.0156	36	c.445 others(51): Show c.445+267_445+268insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	3/19						chr14	TogoVar
TTF2_chr1_117055326_117112453	117089260	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	65	0.0154	36	c.234 others(53): Show c.2342+295_2342+296insATATATATATATATATATATATATATAT ATATATAT		TTF2	ENSG00000116830.12	transcript	ENST00000369466.9	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTI2_chr8_33493722_33518135	33517182	C C	CGGGGGGG others(29): Show CGGGGGGGGGGGGGGGGAGGGGGGGAGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	396	0.0025	36	c.-42 others(47): Show c.-4201_-4200insCCCCCCCCCCCTCCCCCCCTCCCCCCCCCCCCCC CC		TTI2	ENSG00000129696.13	transcript	ENST00000431156.7	protein_coding					4048		chr8	TogoVar
TTLL11_chr9_121810674_122098308	121826511	A A	ATGTATAT others(29): Show ATGTATATATATGTGTGTGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02809.hp2 others(2): Show HG02109.hp1 HG02258.hp1 HG02809.hp2 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0001c0001t0013 a0003c0002t0005 a0001c0001t0005 a0001c0001t0013 a0003c0002t0005	a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0013g0138 others(2): Show a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0013g0138 a0003c0002t0005g0169 a0003c0002t0005g0170	5	148	0.0338	36	c.184 others(55): Show c.1841-3633_1841-3632insCACATATATATATATACACACACACA TATATATACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121899378	C C	CATATATA others(29): Show CATATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	118	0.0085	36	c.148 others(57): Show c.1482-28631_1482-28630insATATATATGTATATATATATATAT ATATATATATAT		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL5_chr14_75656246_75960079	75874933	C C	CCTTTTTT others(29): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	15	0.0667	36	c.352 others(55): Show c.3523-7752_3523-7751insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31						chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19043.hp1 HG03017.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0095 a0001c0002t0001g0081 a0001c0002t0001g0095	2	62	0.0323	36	c.382 others(57): Show c.3823+11810_3823+11811insAAAAAAAAAATATATATATATATA TATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	61	0.0164	36	c.382 others(57): Show c.3823+11810_3823+11811insAAAATATATATATATATATATATA TATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL7_chr1_83860024_84004132	83892393	A A	AATATATA others(29): Show AATATATATGAACATATATATGAACATATATATGAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0185 a0001c0001t0030g0185	1	194	0.0052	36	c.220 others(55): Show c.2209-1948_2209-1913dupGTTCATATATATGTTCATATATATGT TCATATATAT		TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20						chr1	TogoVar
TTLL8_chr22_50013575_50063298	50057229	A A	ATCAGGTC others(29): Show ATCAGGTCTGGGTTGAGGGATCAGTTCTAGGTTGGGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	218	0.0046	36	c.-38 others(51): Show c.-38-292_-38-257dupCCCCAACCTAGAACTGATCCCTCAACCCAG ACCTGA		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50057426	G G	GGGGTCAG others(29): Show GGGGTCAGGTCTGGGTTGTGAGTCAGGTCTGGGTTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0140 a0005c0005t0001g0140	1	222	0.0045	36	c.-38 others(51): Show c.-38-454_-38-453insACAACCCAGACCTGACTCACAACCCAGACC TGACCC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03492.hp2 HG01099.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0142 a0001c0001t0005g0174 a0001c0001t0002g0142 a0001c0001t0005g0174	2	189	0.0106	36	c.113 others(53): Show c.113+2914_113+2915insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0007 a0001c0001 a0001c0002 a0008c0007	a0001c0001t0005 a0001c0002t0001 a0008c0007t0008 a0001c0001t0005 a0001c0002t0001 a0008c0007t0008	a0001c0001t0005g0181 a0001c0002t0001g0105 a0008c0007t0008g0239 a0001c0001t0005g0181 a0001c0002t0001g0105 a0008c0007t0008g0239	3	41	0.0732	36	c.113 others(53): Show c.113+2918_113+2919insCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02258.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0007g0163 a0001c0002t0004g0178 a0001c0001t0007g0163 a0001c0002t0004g0178	2	40	0.0500	36	c.113 others(53): Show c.113+2918_113+2919insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(29): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03225.hp2 others(2): Show HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0012 a0001c0001t0003g0129 a0001c0001t0003g0198 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0129 a0001c0001t0003g0198 a0001c0001t0003g0243 a0001c0001t0019g0114	5	43	0.1163	36	c.113 others(53): Show c.113+2918_113+2919insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03486.hp1 NA19074.hp2 HG00544.hp1 HG03486.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0002 a0001c0002t0001 a0004c0008t0001 a0001c0001t0002 a0001c0002t0001 a0004c0008t0001	a0001c0001t0002g0111 a0001c0002t0001g0191 a0004c0008t0001g0211 a0001c0001t0002g0111 a0001c0002t0001g0191 a0004c0008t0001g0211	3	41	0.0732	36	c.113 others(53): Show c.113+2928_113+2963dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTN_chr2_178520989_178812423	178654965	T T	TCTTCAGG others(29): Show TCTTCAGGCTTTTTAGGAGGAGGCACTGGCACTGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04184.hp1 HG04184.hp1	a0136 a0136	a0136c0098 a0136c0098	a0136c0098t0001 a0136c0098t0001	a0136c0098t0001g0164 a0136c0098t0001g0164	1	240	0.0042	36	c.380 others(47): Show c.38068_38069insTGCCAGTGCCAGTGCCTCCTCCTAAAAAGCCTGA AG	p.Pro others(53): Show p.Pro12689_Glu12690insValProValProValProProProLysL ysProGlu	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	190/363	38293/109224	38068/107976	12690/35991			chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATACA others(29): Show CATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0106 a0010c0106	a0010c0106t0001 a0010c0106t0001	a0010c0106t0001g0167 a0010c0106t0001g0167	1	74	0.0135	36	c.342 others(53): Show c.34292-49_34292-48insATATATATATATATATATATATATATAT ATGTATAT		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178677335	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0088 a0088	a0088c0039 a0088c0039	a0088c0039t0001 a0088c0039t0001	a0088c0039t0001g0112 a0088c0039t0001g0112	1	74	0.0135	36	c.342 others(53): Show c.34292-49_34292-48insATATATATATATATATATATATATATAT ATATATAT		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	146/362						chr2	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0288 a0009c0013t0004g0288	1	277	0.0036	36	c.130 others(53): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	160	0.0063	36	c.42 others(47): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding					4024		chr12	TogoVar
TUBGCP4_chr15_43366101_43414771	43370975	A A	ACCCCGGC others(29): Show ACCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18991.hp2 NA19057.hp1 HG02040.hp1 NA18991.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0031 a0001c0001t0002g0256 a0001c0001t0011g0001 a0001c0001t0002g0031 a0001c0001t0002g0256 a0001c0001t0011g0001	3	11	0.2727	36	c.-38 others(45): Show c.-380_-379insCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG		TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding					125		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp2 HG03704.hp1 HG02080.hp1 HG03239.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0049 a0001c0001t0001g0211 a0001c0010t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0211 a0001c0010t0001g0050	3	166	0.0181	36	c.175 others(53): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ATATATAT		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22						chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATGTG others(29): Show GATATGTGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0267 a0002c0004t0002g0268 a0002c0004t0002g0267 a0002c0004t0002g0268	2	165	0.0121	36	c.175 others(53): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ACACATAT		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22						chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016984	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0287	1	350	0.0029	36	c.175 others(53): Show c.1756+788_1756+789insCATATATATATATATATATATATATATA TATATATA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22						chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016986	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03704.hp2 HG03831.hp1 others(1): Show HG02257.hp2 HG03704.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223	4	331	0.0121	36	c.175 others(53): Show c.1756+786_1756+787insCATATATATATATATATATATATATATA TATATATA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22						chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040561	C C	CCACCTGG others(29): Show CCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	350	0.0029	36	c.-10 others(47): Show c.-1019_-1018insAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGG TG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					993		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040742	G G	GTAACCCC others(29): Show GTAACCCCACCCGGCCAGAGGTGCTGTGGGGCCATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	324	0.0031	36	c.-12 others(47): Show c.-1200_-1199insTGATGGCCCCACAGCACCTCTGGCCGGGTGGGGT TA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					1174		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042110	T T	TGGGATTT others(29): Show TGGGATTTCATAACCCCACCTGGCCAGAGGTGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18981.hp1 HG02135.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0241 a0001c0001t0001g0027 a0001c0001t0001g0241	2	260	0.0077	36	c.-25 others(47): Show c.-2568_-2567insCCCGGCACCTCTGGCCAGGTGGGGTTATGAAATC CC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2542		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042434	T T	TGGGGGGT others(29): Show TGGGGGGTATCATAATCTGACCCGGCCAGAGATGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG00735.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0078 a0001c0002t0002g0079	2	287	0.0070	36	c.-28 others(47): Show c.-2892_-2891insCAGCATCTCTGGCCGGGTCAGATTATGATACCCC CC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2866		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042657	G G	GCGCTAGG others(29): Show GCGCTAGGGGGATAGCATAATCCCACCTGGCCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02132.hp2 NA18947.hp1 others(2): Show HG00597.hp2 HG02132.hp2 NA18947.hp1 NA18955.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0085 a0001c0002t0002g0101 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0085 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0116	5	348	0.0144	36	c.-31 others(47): Show c.-3115_-3114insTCTCTGGCCAGGTGGGATTATGCTATCCCCCTAG CG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3089		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043200	C C	CACCTGGC others(29): Show CACCTGGCCAGAGGTGCTGGGGGGATTACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	322	0.0031	36	c.-36 others(47): Show c.-3658_-3657insTGGATTATGTAATCCCCCCAGCACCTCTGGCCAG GT		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3632		chr15	TogoVar

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