Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
THSD7B_chr2_136760545_137682718	137211350	A A	ACACACAC others(35): Show ACACACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	67	0.0149	42	c.172 others(63): Show c.1724-19679_1724-19678insACACACACACACACACACACACAG AGGCACACACACACACAC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137303674	A A	ATATATAT others(35): Show ATATATATTTATATATATTTATATATATTTATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0006 a0003c0025t0001g0006	1	96	0.0104	42	c.250 others(63): Show c.2500+27655_2500+27656insTTATATATATTTATATATATTTAT ATATATATTTTTATATAT		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161706	C C	CACCCCTG others(35): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01099.hp2 others(40): Show HG00609.hp1 HG00735.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02735.hp2 HG03490.hp1 HG03492.hp1 HG04115.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18956.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19057.hp1 NA19070.hp2 NA19080.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0033 others(10): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0003t0001g0004 a0001c0006t0001g0023 a0002c0001t0001g0001 a0002c0001t0001g0006	43	272	0.1581	42	c.25 others(53): Show c.2526_*2527insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2222		chr11	TogoVar
TH_chr11_2158929_2176815	2161751	C C	CCCCTGTC others(35): Show CCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	386	0.0026	42	c.24 others(53): Show c.2481_*2482insTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGG		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2177		chr11	TogoVar
TH_chr11_2158929_2176815	2161805	C C	CACCCCTG others(35): Show CACCCCTGTCCCCACACCCCGTCCCCACACCCCTGTCCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	357	0.0028	42	c.24 others(53): Show c.2427_*2428insCCTGGGGACAGGGGTGTGGGGACGGGGTGTGGGG ACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2123		chr11	TogoVar
TH_chr11_2158929_2176815	2161903	A A	ACACCCCT others(35): Show ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG03540.hp1 HG02280.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0084 a0001c0002t0001g0009 a0001c0002t0001g0084	3	41	0.0732	42	c.23 others(53): Show c.2329_*2330insGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGA CAGGGGTG		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2025		chr11	TogoVar
TH_chr11_2158929_2176815	2161962	G G	GACCCCTG others(35): Show GACCCCTGTCCTCACACCCCTGTCCCCAGGACCCCTGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG02257.hp1 others(5): Show HG00639.hp2 HG01070.hp1 HG02257.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0001 a0001c0018t0001 a0001c0005t0001 a0001c0018t0001	a0001c0005t0001g0012 a0001c0005t0001g0075 a0001c0018t0001g0102 a0001c0005t0001g0012 a0001c0005t0001g0075 a0001c0018t0001g0102	8	385	0.0208	42	c.22 others(53): Show c.2270_*2271insTGGGGACAGGGGTCCTGGGGACAGGGGTGTGAGG ACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					1966		chr11	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATAT others(35): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0164 a0002c0003t0002g0164	1	117	0.0085	42	c.199 others(59): Show c.1995+698_1995+699insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATATATATATA		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27						chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228234	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA21309.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0002 a0001c0020t0022 a0001c0001t0002 a0001c0020t0022	a0001c0001t0002g0077 a0001c0020t0022g0106 a0001c0001t0002g0077 a0001c0020t0022g0106	2	203	0.0099	42	c.158 others(61): Show c.1585-2285_1585-2284insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27						chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG02622.hp1 others(3): Show HG00741.hp2 HG01106.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0005 a0001c0007t0002 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0007t0002 a0001c0007t0003	a0001c0002t0001g0103 a0001c0002t0001g0135 a0001c0002t0005g0051 others(3): Show a0001c0002t0001g0103 a0001c0002t0001g0135 a0001c0002t0005g0051 a0001c0007t0002g0168 a0001c0007t0002g0208 a0001c0007t0003g0045	6	192	0.0313	42	c.158 others(61): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27						chr21	TogoVar
TIAM2_chr6_154990315_155262723	155018683	T T	TCCCCCCC others(35): Show TCCCCCCCTCCCCTCCCCCTTCCCTCCCTTCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	177	0.0056	42	c.-20 others(63): Show c.-209+23191_-209+23192insCCCCCCCTCCCCTCCCCCTTCCCT CCCTTCCCTCCCCTCCCC		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26						chr6	TogoVar
TIAM2_chr6_154990315_155262723	155018686	C C	CCCCCCTC others(35): Show CCCCCCTCCCCTCCCCTTCCCTTCCCTCCCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0005 a0001c0002t0033g0005	1	223	0.0045	42	c.-20 others(63): Show c.-209+23195_-209+23196insCCCCTCCCCTCCCCTTCCCTTCCC TCCCCTCCCCCCCTCCTC		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029508	A A	ATATAGTA others(35): Show ATATAGTATATATTATATATAATATATACTATAGTATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01192.hp2 others(11): Show HG00280.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG02683.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03834.hp2 NA18952.hp1 NA18969.hp1 NA18982.hp2 NA19001.hp2 NA19007.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0014	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0038 a0002c0003 a0003c0006 a0011c0044 a0014c0048	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0002 a0001c0005t0016 a0001c0007t0008 a0001c0038t0001 a0002c0003t0001 a0002c0003t0003 a0003c0006t0002 a0011c0044t0014 a0014c0048t0001	a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0002t0001g0058 others(11): Show a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0002t0001g0058 a0001c0002t0001g0170 a0001c0002t0003g0054 a0001c0005t0002g0047 a0001c0005t0016g0190 a0001c0007t0008g0148 a0001c0038t0001g0132 a0002c0003t0001g0040 a0002c0003t0003g0117 a0003c0006t0002g0114 a0011c0044t0014g0187 a0014c0048t0001g0050	14	179	0.0782	42	c.-20 others(63): Show c.-209+34020_-209+34021insGTATATATTATATATAATATATAC TATAGTATATATACTATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029513	C C	CTATATAT others(35): Show CTATATATTATATATAATATATACTATAGTATATATACTATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02965.hp1 HG00639.hp2 HG02257.hp2 HG02965.hp1	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0009 a0007c0060 a0015c0029 a0001c0009 a0007c0060 a0015c0029	a0001c0009t0008 a0007c0060t0005 a0015c0029t0001 a0001c0009t0008 a0007c0060t0005 a0015c0029t0001	a0001c0009t0008g0077 a0007c0060t0005g0206 a0015c0029t0001g0042 a0001c0009t0008g0077 a0007c0060t0005g0206 a0015c0029t0001g0042	3	40	0.0750	42	c.-20 others(63): Show c.-209+34032_-209+34033insTATAATATATACTATAGTATATAT ACTATAGTATATATTATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIE1_chr1_43295982_43328108	43308457	A A	AGGGATTG others(35): Show AGGGATTGGGGACTCAGGTTTGGGTACCAGGACAGTGGAGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(292): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0014 a0001c0015 a0001c0016 a0003c0007 a0005c0013 a0006c0010 a0007c0022 a0009c0012 a0010c0020 a0011c0019 a0012c0021 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0009t0005 a0001c0014t0001 a0001c0015t0001 a0001c0016t0001 a0003c0007t0001 a0005c0013t0001 a0006c0010t0001 a0007c0022t0001 a0009c0012t0001 a0010c0020t0001 a0011c0019t0001 a0012c0021t0001 a0013c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(141): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0002g0001 a0001c0001t0004g0131 a0001c0003t0001g0071 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0147 a0001c0004t0001g0004 a0001c0004t0001g0130 a0001c0009t0005g0136 a0001c0014t0001g0005 a0001c0015t0001g0033 a0001c0016t0001g0020 a0003c0007t0001g0021 a0005c0013t0001g0055 a0006c0010t0001g0066 a0007c0022t0001g0003 a0009c0012t0001g0030 a0010c0020t0001g0005 a0011c0019t0001g0072 a0012c0021t0001g0004 a0013c0018t0001g0079	295	398	0.7412	42	c.104 others(59): Show c.1043-524_1043-483dupTTGGGGACTCAGGTTTGGGTACCAGGAC AGTGGAGTGGGGGA		TIE1	ENSG00000066056.14	transcript	ENST00000372476.8	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
TIE1_chr1_43295982_43328108	43308460	G G	GATTGGGG others(35): Show GATTGGGGACTCAGGTTTGGGTACCAGGACAGTGGAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp1 HG02559.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0186 a0001c0001t0001g0187	2	398	0.0050	42	c.104 others(59): Show c.1043-485_1043-484insAATTGGGGACTCAGGTTTGGGTACCAGG ACAGTGGAGTGGGG		TIE1	ENSG00000066056.14	transcript	ENST00000372476.8	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
TIGD2_chr4_89106533_89119901	89108015	T T	TATCAGCA others(35): Show TATCAGCAGCATGAAAACAGACTAATACAGCCTCTGTGATTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0001 a0002c0003t0003g0001	1	428	0.0023	42	c.-47 others(53): Show c.-4777_-4776insATCAGCAGCATGAAAACAGACTAATACAGCCTCT GTGATTGA		TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding					3517		chr4	TogoVar
TIGIT_chr3_114289028_114315288	114303575	A A	ATATATAT others(35): Show ATATATATACACATATATATGTATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 NA19043.hp2 HG02818.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0090 a0001c0001t0008g0188 a0001c0001t0008g0058 a0001c0001t0008g0090 a0001c0001t0008g0188	3	402	0.0075	42	c.498 others(59): Show c.498+3880_498+3881insCACATATATATGTATATATATACACATA TATATGTATATATA		TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
TIMM23B_chr10_49937053_49979850	49977109	T T	TCTCATAT others(35): Show TCTCATATACTCCTTTTTTTTTTTTTTTGAGGATGGAGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	374	0.0027	42	c.40 others(53): Show c.4045_*4046insCTCATATACTCCTTTTTTTTTTTTTTTGAGGATG GAGTCTCA		TIMM23B	ENSG00000204152.14	transcript	ENST00000651259.3	protein_coding					2260		chr10	TogoVar
TIMP2_chr17_78847977_78930387	78904091	A A	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02040.hp2 HG02965.hp1 others(4): Show HG00639.hp1 HG02040.hp2 HG02965.hp1 HG03453.hp2 HG06807.hp2 NA18957.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0041 a0001c0001t0050	a0001c0001t0001g0230 a0001c0001t0002g0142 a0001c0001t0005g0164 others(4): Show a0001c0001t0001g0230 a0001c0001t0002g0142 a0001c0001t0005g0164 a0001c0001t0010g0041 a0001c0001t0010g0049 a0001c0001t0041g0046 a0001c0001t0050g0161	7	182	0.0385	42	c.130 others(61): Show c.130+20867_130+20868insCACACACACACACACACACACACACA CACACACACACACACA		TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4						chr17	TogoVar
TLDC2_chr20_36871138_36899235	36880070	C C	CATATATA others(35): Show CATATATATATATGTATATATATATATGTGTGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18940.hp2 HG04184.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0165 a0001c0001t0001g0087 a0001c0001t0001g0165	2	159	0.0126	42	c.343 others(57): Show c.343-573_343-572insGTATATATATATATGTGTGTGTATATATAT ATATATATATAT		TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TLDC2_chr20_36871138_36899235	36880070	C C	CATATATA others(35): Show CATATATATATGTATATATATATATGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	158	0.0063	42	c.343 others(57): Show c.343-575_343-574insGTATATATATATATGTGTGTGTATATATAT ATATATATATAT		TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TLL1_chr4_165868237_166109457	165923421	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0117 a0002c0002t0005g0117	1	41	0.0244	42	c.169 others(61): Show c.169+49373_169+49374insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT		TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00673.hp1 others(6): Show HG00280.hp2 HG00438.hp1 HG00673.hp1 NA18612.hp2 NA18966.hp1 NA18984.hp1 NA19055.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0005 a0002c0002t0012 a0003c0004t0023	a0001c0001t0001g0076 a0001c0001t0001g0163 a0001c0001t0001g0164 others(6): Show a0001c0001t0001g0076 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0004g0218 a0001c0001t0009g0238 a0002c0002t0005g0119 a0002c0002t0012g0172 a0003c0004t0023g0134	9	79	0.1139	42	c.152 others(61): Show c.1525-2110_1525-2109insGTATATATATATATATATATATATAT ATATATATATATATAT		TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0015 a0003c0004t0019 a0001c0001t0015 a0003c0004t0019	a0001c0001t0015g0053 a0003c0004t0019g0150 a0001c0001t0015g0053 a0003c0004t0019g0150	2	72	0.0278	42	c.152 others(61): Show c.1525-2110_1525-2109insGTGTGTGTGTGTATATATATATATAT ATATATATATATATAT		TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG04184.hp1 others(1): Show HG02647.hp2 HG02976.hp2 HG04184.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0004t0017	a0001c0001t0001g0191 a0001c0001t0002g0037 a0001c0001t0004g0219 others(1): Show a0001c0001t0001g0191 a0001c0001t0002g0037 a0001c0001t0004g0219 a0003c0004t0017g0021	4	74	0.0541	42	c.152 others(61): Show c.1525-2110_1525-2109insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATAT		TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL1_chr4_165868237_166109457	166052965	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	71	0.0141	42	c.152 others(61): Show c.1525-2110_1525-2109insGTGTGTGTGTGTGTGTGTATATATAT ATATATATATATATAT		TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TLR4_chr9_117699403_117729735	117724889	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	90	0.0111	42	c.10 others(55): Show c.10241_*10242insACACACACACACACACACACACACACACACAC ACAAACACAC		TLR4	ENSG00000136869.16	transcript	ENST00000355622.8	protein_coding					155		chr9	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	51	0.0196	42	c.16- others(57): Show c.16-9146_16-9145insATATATATATATATATATATATATATATAT ATATTTTTTTTT		TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC5_chr16_19412883_19504113	19438433	A A	AGAGAAGA others(35): Show AGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	334	0.0030	42	c.-79 others(59): Show c.-79-1527_-79-1526insGAGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG		TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21						chr16	TogoVar
TMC5_chr16_19412883_19504113	19490903	C C	CTCCCTTC others(35): Show CTCCCTTCCCTTCCCTTCCCCTTCTTTCTCCCTTCCCCTCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0023 a0003c0014t0023	a0003c0014t0023g0010 a0003c0014t0023g0010	1	127	0.0079	42	c.274 others(59): Show c.2747+349_2747+350insTTCCCCTTCTTTCTCCCTTCCCCTCCCT TCCCTTCCCTTCCC		TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC6_chr17_78102397_78133755	78113573	T T	TCTCGTAG others(35): Show TCTCGTAGATGGAGTGAAGCTTGTTGATTAAGAAGATTTTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18989.hp1 NA18989.hp1	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0029 a0020c0036t0029	a0020c0036t0029g0409 a0020c0036t0029g0409	1	442	0.0023	42	c.228 others(51): Show c.2287_2328dupGACAAAATCTTCTTAATCAACAAGCTTCACTCCATC TACGAG	p.Glu others(55): Show p.Glu776_Arg777insAspLysIlePheLeuIleAsnLysLeuHisSe rIleTyrGlu	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	19/20	2546/8387	2328/2418	776/805			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(35): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02083.hp2 HG02135.hp2 others(2): Show HG01106.hp2 HG02083.hp2 HG02135.hp2 HG03704.hp2 NA19003.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0017	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0005c0004 a0017c0019	a0001c0001t0003 a0001c0005t0014 a0002c0002t0006 others(2): Show a0001c0001t0003 a0001c0005t0014 a0002c0002t0006 a0005c0004t0001 a0017c0019t0002	a0001c0001t0003g0169 a0001c0005t0014g0318 a0002c0002t0006g0077 others(2): Show a0001c0001t0003g0169 a0001c0005t0014g0318 a0002c0002t0006g0077 a0005c0004t0001g0218 a0017c0019t0002g0074	5	401	0.0125	42	c.227 others(61): Show c.2277+1613_2277+1654dupGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCT		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(35): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0427 a0001c0001t0001g0427	1	397	0.0025	42	c.227 others(61): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCT		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(35): Show AGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18968.hp2 HG06807.hp2 NA18968.hp2	a0004 a0008 a0004 a0008	a0004c0006 a0008c0013 a0004c0006 a0008c0013	a0004c0006t0043 a0008c0013t0002 a0004c0006t0043 a0008c0013t0002	a0004c0006t0043g0053 a0008c0013t0002g0035 a0004c0006t0043g0053 a0008c0013t0002g0035	2	189	0.0106	42	c.227 others(61): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(35): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02896.hp2 HG03490.hp1 others(3): Show HG02735.hp2 HG02896.hp2 HG03490.hp1 HG03492.hp1 HG04204.hp1 NA18990.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0002c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0006 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0334 a0001c0001t0009g0021 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0334 a0001c0001t0009g0021 a0002c0002t0006g0118 a0003c0003t0001g0408	6	193	0.0311	42	c.227 others(61): Show c.2277+1609_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03225.hp2 NA18943.hp1 HG02027.hp2 HG03225.hp2 NA18943.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0004 a0002c0002t0070 a0005c0004t0033 a0001c0001t0004 a0002c0002t0070 a0005c0004t0033	a0001c0001t0004g0273 a0002c0002t0070g0419 a0005c0004t0033g0226 a0001c0001t0004g0273 a0002c0002t0070g0419 a0005c0004t0033g0226	3	405	0.0074	42	c.227 others(61): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	408	0.0025	42	c.227 others(61): Show c.2277+1587_2277+1588insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19074.hp2 HG00099.hp1 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0001 a0003c0003t0003 a0001c0005t0001 a0003c0003t0003	a0001c0005t0001g0242 a0003c0003t0003g0386 a0001c0005t0001g0242 a0003c0003t0003g0386	2	409	0.0049	42	c.227 others(61): Show c.2277+1587_2277+1588insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02040.hp1 NA19088.hp2 HG01257.hp2 HG02040.hp1 NA19088.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0002 a0003c0003 a0010c0034 a0002c0002 a0003c0003 a0010c0034	a0002c0002t0002 a0003c0003t0001 a0010c0034t0001 a0002c0002t0002 a0003c0003t0001 a0010c0034t0001	a0002c0002t0002g0080 a0003c0003t0001g0396 a0010c0034t0001g0207 a0002c0002t0002g0080 a0003c0003t0001g0396 a0010c0034t0001g0207	3	418	0.0072	42	c.227 others(61): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0002 a0017c0019t0002	a0017c0019t0002g0074 a0017c0019t0002g0074	1	399	0.0025	42	c.227 others(61): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19010.hp1 NA19000.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0060 a0001c0001t0001 a0001c0005t0060	a0001c0001t0001g0174 a0001c0005t0060g0193 a0001c0001t0001g0174 a0001c0005t0060g0193	2	416	0.0048	42	c.227 others(61): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115786	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0289 a0001c0001t0011g0289	1	411	0.0024	42	c.227 others(61): Show c.2277+1482_2277+1483insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA21309.hp2 NA18991.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0005 a0007c0007t0002 a0001c0001t0005 a0007c0007t0002	a0001c0001t0005g0170 a0007c0007t0002g0065 a0001c0001t0005g0170 a0007c0007t0002g0065	2	414	0.0048	42	c.227 others(61): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0228 a0005c0004t0003g0228	1	408	0.0025	42	c.227 others(61): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	402	0.0025	42	c.227 others(61): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115912	G G	GGCGAAGG others(35): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	421	0.0024	42	c.227 others(61): Show c.2277+1356_2277+1357insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115915	G G	GAAGGGAG others(35): Show GAAGGGAGTGGGCACAGGAGCAAAGGGAGTGGGCACAGGGGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0050 a0004c0006t0002g0050	1	439	0.0023	42	c.227 others(61): Show c.2277+1353_2277+1354insTGCCCCTGTGCCCACTCCCTTTGCTC CTGTGCCCACTCCCTT		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMCC2_chr1_205222946_205278343	205247843	C C	CAGGGTTG others(35): Show CAGGGTTGAGTCCAGCCCTGGCGGGGTTGAGTCCAGCCCTGGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19002.hp2 NA19007.hp1 others(1): Show NA18948.hp2 NA19002.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0024 a0001c0007t0001g0033 a0001c0007t0001g0326 a0001c0007t0001g0024 a0001c0007t0001g0033 a0001c0007t0001g0326	4	370	0.0108	42	c.747 others(59): Show c.747+5799_747+5800insAGGGTTGAGTCCAGCCCTGGCGGGGTTG AGTCCAGCCCTGGT		TMCC2	ENSG00000133069.17	transcript	ENST00000358024.8	protein_coding	2/4						chr1	TogoVar
TMCO3_chr13_113486021_113555229	113543288	C C	CGTGACCC others(35): Show CGTGACCCCCACCTCCTCCCCCTGTGCCCCACCCTCCCTGTGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18964.hp1 NA18952.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0150 a0002c0003t0003g0265 a0001c0001t0001g0150 a0002c0003t0003g0265	2	313	0.0064	42	c.169 others(61): Show c.1690+3804_1690+3805insTGCCCCACCCTCCCTGTGTGTGACCC CCACCTCCTCCCCCTG		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar

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