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
SCYGR1_chr2_227382683_227392949	227387219	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	375	0.0027	-18	c.44 others(27): Show c.446_*463delTATATAGAGAGAGAGAGA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					463		chr2	TogoVar
SCYGR6_chr2_227719440_227729757	227724461	GCAGCAGC others(11): Show GCAGCAGCCCTTCTGCTGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01261.hp2 HG02027.hp1 HG02040.hp2 others(35): Show HG01261.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18941.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19079.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0004 a0002c0027 a0006c0013 a0002c0004 a0002c0027 a0006c0013	a0002c0004t0001 a0002c0027t0001 a0006c0013t0001 a0002c0004t0001 a0002c0027t0001 a0006c0013t0001	a0002c0004t0001g0000 a0002c0027t0001g0000 a0006c0013t0001g0000 a0002c0004t0001g0000 a0002c0027t0001g0000 a0006c0013t0001g0000	38	454	0.0837	-18	c.279 others(25): Show c.279_296delTCAGCAGAAGGGCTGCTG	p.Gln others(11): Show p.Gln94_Cys99del	SCYGR6	ENSG00000284725.1	transcript	ENST00000641918.1	protein_coding	1/1	296/318	279/318	93/105			chr2	TogoVar
SCYGR6_chr2_227719440_227729757	227724482	GCAGCCCT others(11): Show GCAGCCCTTCTGCTGGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG03041.hp1 HG03195.hp1 others(2): Show HG02559.hp2 HG03041.hp1 HG03195.hp1 HG06807.hp2 NA19080.hp1	a0002 a0006 a0002 a0006	a0002c0010 a0002c0023 a0006c0022 a0002c0010 a0002c0023 a0006c0022	a0002c0010t0001 a0002c0023t0001 a0006c0022t0001 a0002c0010t0001 a0002c0023t0001 a0006c0022t0001	a0002c0010t0001g0000 a0002c0023t0001g0000 a0006c0022t0001g0000 a0002c0010t0001g0000 a0002c0023t0001g0000 a0006c0022t0001g0000	5	316	0.0158	-18	c.258 others(25): Show c.258_275delTTGCCAGCAGAAGGGCTG	p.Cys others(11): Show p.Cys87_Cys92del	SCYGR6	ENSG00000284725.1	transcript	ENST00000641918.1	protein_coding	1/1	275/318	258/318	86/105			chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227724461	GCAGCAGC others(11): Show GCAGCAGCCCTTCTGCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02027.hp1 HG02040.hp1 others(36): Show HG01261.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18941.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18987.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0010 a0017 a0019	a0001c0001 a0001c0007 a0001c0012 others(7): Show a0001c0001 a0001c0007 a0001c0012 a0002c0002 a0003c0004 a0004c0003 a0005c0006 a0010c0015 a0017c0031 a0019c0029	a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 others(7): Show a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0005c0006t0001 a0010c0015t0001 a0017c0031t0001 a0019c0029t0001	a0001c0001t0001g0000 a0001c0007t0001g0000 a0001c0012t0001g0000 others(7): Show a0001c0001t0001g0000 a0001c0007t0001g0000 a0001c0012t0001g0000 a0002c0002t0001g0000 a0003c0004t0001g0000 a0004c0003t0001g0000 a0005c0006t0001g0000 a0010c0015t0001g0000 a0017c0031t0001g0000 a0019c0029t0001g0000	39	454	0.0859	-18	c.-38 others(29): Show c.-3873_-3856delCAGCAGCCCTTCTGCTGA		SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding					3873		chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227724482	GCAGCCCT others(11): Show GCAGCCCTTCTGCTGGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03041.hp1 HG03195.hp1 others(2): Show HG02559.hp1 HG03041.hp1 HG03195.hp1 HG06807.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	5	313	0.0160	-18	c.-38 others(29): Show c.-3852_-3835delCAGCCCTTCTGCTGGCAA		SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding					3852		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100315762	ATCTACTG others(11): Show ATCTACTGTTATTTATGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01099.hp2 others(3): Show HG00140.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG02602.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0002 a0001c0016t0012 a0001c0003t0002 a0001c0016t0012	a0001c0003t0002g0012 a0001c0003t0002g0171 a0001c0003t0002g0177 others(2): Show a0001c0003t0002g0012 a0001c0003t0002g0171 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0016t0012g0174	6	218	0.0275	-18	c.127 others(33): Show c.1272+30_1272+47delCTACTGTTATTTATGATT		SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SDAD1_chr4_75944915_75995945	75966267	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0276 a0004c0006t0002g0276	1	135	0.0074	-18	c.104 others(35): Show c.1046-463_1046-446delGTGTGTGTGTGTGTGTGT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	12/21						chr4	TogoVar
SDC2_chr8_96488813_96616790	96506448	TCATATAT others(11): Show TCATATATTATATACATTA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	332	0.0030	-18	c.60+ others(35): Show c.60+12125_60+12142delTATATACATTACATATAT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96508296	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(44): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01884.hp2 HG01943.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp1 HG02280.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp2 NA18941.hp1 NA18956.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19067.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0004 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0236 a0001c0001t0004g0001 a0001c0001t0004g0032 a0001c0001t0004g0037 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0013g0048 a0001c0001t0014g0056 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0049 a0001c0003t0001g0053 a0001c0003t0001g0058 a0002c0002t0001g0026 a0002c0002t0001g0035 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0070 a0002c0002t0003g0230 a0002c0005t0004g0047 a0003c0004t0001g0008 a0003c0004t0001g0060 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068	47	108	0.4352	-18	c.60+ others(35): Show c.60+13996_60+14013delAATAATAATAATAATAAT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC3_chr1_30864466_30913758	30908522	GCGGCCCC others(11): Show GCGGCCCCGGCCCCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG03209.hp1 NA18522.hp1 others(1): Show HG02559.hp2 HG03209.hp1 NA18522.hp1 NA20300.hp1	a0006 a0006	a0006c0008 a0006c0017 a0006c0008 a0006c0017	a0006c0008t0019 a0006c0017t0005 a0006c0008t0019 a0006c0017t0005	a0006c0008t0019g0002 a0006c0017t0005g0025 a0006c0008t0019g0002 a0006c0017t0005g0025	4	384	0.0104	-18	c.47_ others(23): Show c.47_64delGCGCCGGGGCCGGGGCCG	p.Gly others(11): Show p.Gly16_Ala21del	SDC3	ENSG00000162512.16	transcript	ENST00000339394.7	protein_coding	1/5	236/5246	47/1329	16/442			chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327406	ATTTATAA others(11): Show ATTTATAATTTTATAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp1 others(37): Show HG00140.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01496.hp1 HG01993.hp1 HG02155.hp1 HG02293.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18959.hp1 NA18982.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp1 NA19068.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0002c0004 a0006c0010 a0002c0003 a0002c0004 a0006c0010	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0006c0010t0001	a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0134 others(37): Show a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0134 a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0173 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0002g0121 a0002c0004t0001g0143 a0002c0004t0001g0152 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0177 a0002c0004t0001g0183 a0006c0010t0001g0133	40	187	0.2139	-18	c.106 others(37): Show c.1069-3131_1069-3114delTATAATTTTATAGAAGTT		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243452409	CATCTCTT others(11): Show CATCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	150	0.0067	-18	c.198 others(39): Show c.1985+25852_1985+25869delATCTCTTTTTTTTTTTTT		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17						chr1	TogoVar
SDHC_chr1_161309381_161368206	161311438	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 NA18522.hp2 others(1): Show HG02630.hp1 HG02717.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0042 others(1): Show a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0042 a0001c0001t0005g0043	4	328	0.0122	-18	c.-29 others(29): Show c.-2967_-2950delTGTGTGTGTGTGTATGTA		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding					2942		chr1	TogoVar
SDHC_chr1_161309381_161368206	161354663	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0253 a0001c0005t0002g0253	1	35	0.0286	-18	c.242 others(35): Show c.242-1984_242-1967delGTGTGTGTGTGTGTGTGT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01516.hp1 HG02258.hp1 others(9): Show HG00639.hp1 HG01516.hp1 HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG04228.hp1 NA18906.hp1 NA20129.hp2	a0001 a0019 a0032 others(1): Show a0001 a0019 a0032 a0035	a0001c0004 a0001c0008 a0001c0010 others(8): Show a0001c0004 a0001c0008 a0001c0010 a0001c0031 a0001c0034 a0001c0059 a0001c0061 a0001c0064 a0019c0050 a0032c0075 a0035c0073	a0001c0004t0005 a0001c0008t0004 a0001c0010t0002 others(9): Show a0001c0004t0005 a0001c0008t0004 a0001c0010t0002 a0001c0010t0060 a0001c0031t0001 a0001c0034t0028 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0019c0050t0019 a0032c0075t0008 a0035c0073t0001	a0001c0004t0005g0102 a0001c0008t0004g0095 a0001c0010t0002g0085 others(9): Show a0001c0004t0005g0102 a0001c0008t0004g0095 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0031t0001g0018 a0001c0034t0028g0098 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0019c0050t0019g0092 a0032c0075t0008g0015 a0035c0073t0001g0016	12	50	0.2400	-18	c.298 others(39): Show c.298+101968_298+101985delTATATATATATATATATA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp2 HG03471.hp2 HG01123.hp1 HG02145.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0032 a0001c0092 a0004c0080 a0001c0032 a0001c0092 a0004c0080	a0001c0032t0058 a0001c0092t0048 a0004c0080t0014 a0001c0032t0058 a0001c0092t0048 a0004c0080t0014	a0001c0032t0058g0043 a0001c0092t0048g0057 a0004c0080t0014g0078 a0001c0032t0058g0043 a0001c0092t0048g0057 a0004c0080t0014g0078	3	50	0.0600	-18	c.713 others(37): Show c.713+13382_713+13399delATATATATATATATATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG02922.hp2 others(2): Show HG02258.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 NA18522.hp1	a0001 a0011 a0024 a0001 a0011 a0024	a0001c0017 a0001c0049 a0011c0021 others(1): Show a0001c0017 a0001c0049 a0011c0021 a0024c0023	a0001c0017t0011 a0001c0049t0036 a0011c0021t0073 others(1): Show a0001c0017t0011 a0001c0049t0036 a0011c0021t0073 a0024c0023t0030	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 others(2): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 a0011c0021t0073g0007 a0024c0023t0030g0113	5	9	0.5556	-18	c.242 others(35): Show c.2420+340_2420+357delTTTTTTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4055544	GTTGTTGT others(11): Show GTTGTTGTTGTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	-18	c.291 others(37): Show c.2911+3717_2911+3734delGTTGTTGTTTTTGTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	19/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4084714	ATGTTATG others(11): Show ATGTTATGTTATGTTATGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01123.hp2 others(7): Show HG00738.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01978.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp1 NA20752.hp2	a0002 a0006 a0010 others(3): Show a0002 a0006 a0010 a0020 a0021 a0023	a0002c0009 a0002c0042 a0002c0054 others(6): Show a0002c0009 a0002c0042 a0002c0054 a0006c0016 a0006c0077 a0010c0079 a0020c0063 a0021c0068 a0023c0083	a0002c0009t0004 a0002c0042t0002 a0002c0054t0002 others(7): Show a0002c0009t0004 a0002c0042t0002 a0002c0054t0002 a0006c0016t0001 a0006c0016t0003 a0006c0077t0003 a0010c0079t0054 a0020c0063t0007 a0021c0068t0014 a0023c0083t0044	a0002c0009t0004g0093 a0002c0042t0002g0105 a0002c0054t0002g0101 others(7): Show a0002c0009t0004g0093 a0002c0042t0002g0105 a0002c0054t0002g0101 a0006c0016t0001g0114 a0006c0016t0003g0068 a0006c0077t0003g0099 a0010c0079t0054g0071 a0020c0063t0007g0106 a0021c0068t0014g0014 a0023c0083t0044g0004	10	116	0.0862	-18	c.332 others(37): Show c.3324+5136_3324+5153delTGTTATGTTATGTTGTTA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4107111	CAGGGTGG others(11): Show CAGGGTGGGGAGGGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03209.hp1 others(3): Show HG02717.hp1 HG02896.hp1 HG03209.hp1 HG03471.hp1 HG03688.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0034	a0001c0040 a0001c0046 a0001c0060 others(3): Show a0001c0040 a0001c0046 a0001c0060 a0002c0013 a0003c0047 a0034c0052	a0001c0040t0001 a0001c0046t0022 a0001c0060t0041 others(3): Show a0001c0040t0001 a0001c0046t0022 a0001c0060t0041 a0002c0013t0064 a0003c0047t0038 a0034c0052t0032	a0001c0040t0001g0040 a0001c0046t0022g0091 a0001c0060t0041g0080 others(3): Show a0001c0040t0001g0040 a0001c0046t0022g0091 a0001c0060t0041g0080 a0002c0013t0064g0023 a0003c0047t0038g0082 a0034c0052t0032g0107	6	105	0.0571	-18	c.332 others(37): Show c.3325-3515_3325-3498delAGGGTGGGGAGGGTGGGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4162363	GTTGTTGT others(11): Show GTTGTTGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	115	0.0087	-18	c.480 others(35): Show c.4800+510_4800+527delGTTGTTATTATTATTATT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	32/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73330545	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00738.hp2 others(9): Show HG00323.hp1 HG00544.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG02970.hp1 HG02976.hp2 HG03942.hp2 HG04204.hp2 NA18948.hp2 NA19007.hp1 NA19007.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0010 a0012 a0016 a0021	a0001c0001 a0001c0002 a0001c0023 others(8): Show a0001c0001 a0001c0002 a0001c0023 a0001c0043 a0002c0030 a0003c0009 a0006c0097 a0010c0100 a0012c0062 a0016c0057 a0021c0096	a0001c0001t0001 a0001c0002t0014 a0001c0023t0008 others(8): Show a0001c0001t0001 a0001c0002t0014 a0001c0023t0008 a0001c0043t0033 a0002c0030t0072 a0003c0009t0003 a0006c0097t0070 a0010c0100t0069 a0012c0062t0001 a0016c0057t0003 a0021c0096t0044	a0001c0001t0001g0064 a0001c0001t0001g0196 a0001c0002t0014g0098 others(9): Show a0001c0001t0001g0064 a0001c0001t0001g0196 a0001c0002t0014g0098 a0001c0023t0008g0034 a0001c0043t0033g0003 a0002c0030t0072g0096 a0003c0009t0003g0084 a0006c0097t0070g0049 a0010c0100t0069g0091 a0012c0062t0001g0140 a0016c0057t0003g0172 a0021c0096t0044g0155	12	24	0.5000	-18	c.80 others(29): Show c.8024_*8041delCACACACACACACACACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding					3838		chr17	TogoVar
SDK2_chr17_73329384_73649445	73405467	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0047 a0001c0002 a0008c0047	a0001c0002t0065 a0008c0047t0023 a0001c0002t0065 a0008c0047t0023	a0001c0002t0065g0177 a0008c0047t0023g0019 a0001c0002t0065g0177 a0008c0047t0023g0019	2	96	0.0208	-18	c.248 others(37): Show c.2485-3344_2485-3327delATATATATATATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73469992	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0007 a0001c0052t0007	a0001c0052t0007g0057 a0001c0052t0007g0057	1	51	0.0196	-18	c.331 others(35): Show c.331+2102_331+2119delTGTGTGTGTGTGTGTGTG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73483693	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 NA18522.hp1 HG02630.hp2 HG03209.hp1 NA18522.hp1	a0001 a0019 a0001 a0019	a0001c0006 a0001c0033 a0019c0092 a0001c0006 a0001c0033 a0019c0092	a0001c0006t0018 a0001c0033t0052 a0019c0092t0007 a0001c0006t0018 a0001c0033t0052 a0019c0092t0007	a0001c0006t0018g0111 a0001c0033t0052g0002 a0019c0092t0007g0116 a0001c0006t0018g0111 a0001c0033t0052g0002 a0019c0092t0007g0116	3	198	0.0152	-18	c.225 others(37): Show c.225-11493_225-11476delAAAATATATATATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73499859	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19080.hp2 HG02300.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0031 a0001c0003 a0002c0031	a0001c0003t0002 a0002c0031t0006 a0001c0003t0002 a0002c0031t0006	a0001c0003t0002g0076 a0002c0031t0006g0123 a0001c0003t0002g0076 a0002c0031t0006g0123	2	8	0.2500	-18	c.224 others(35): Show c.224+7561_224+7578delCACACACACACACACACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73515656	AGCCTTAG others(11): Show AGCCTTAGGGGCTTCTTGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0063 a0002c0059t0063	a0002c0059t0063g0145 a0002c0059t0063g0145	1	202	0.0050	-18	c.65- others(33): Show c.65-8077_65-8060delCCAAGAAGCCCCTAAGGC		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDR39U1_chr14_24434766_24447776	24443903	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	9	0.1111	-18	c.-11 others(29): Show c.-1152_-1135delAAAAAAAAAAAAAAAAAA		SDR39U1	ENSG00000100445.18	transcript	ENST00000399395.8	protein_coding					1128		chr14	TogoVar
SDSL_chr12_113417380_113443276	113432210	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	296	0.0034	-18	c.355 others(35): Show c.355-1922_355-1905delCTTTCTTTCTTTCTTTCT		SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	8	0.1250	-18	c.52- others(33): Show c.52-8967_52-8950delTTTTTTTTTTTTTTTTTT		SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5						chr15	TogoVar
SEC13_chr3_10295931_10326112	10319761	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG02280.hp1 others(11): Show HG00639.hp2 HG01109.hp1 HG02280.hp1 HG02486.hp1 HG02717.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251	14	116	0.1207	-18	c.3+1 others(31): Show c.3+1271_3+1288delTCTCTCTCTCTCTCTCTC		SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding	1/8						chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77145081	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0308 a0001c0002t0003g0308	1	428	0.0023	-18	c.63+ others(33): Show c.63+1436_63+1453delATGTATGTGTGTGTGTGT		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77190983	AAGGGCGT others(11): Show AAGGGCGTCCTGGTGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	428	0.0023	-18	c.213 others(31): Show c.213+62_213+79delTGGGAGAGGGCGTCCTGG		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L6_chr22_30517799_30551741	30548618	TGCTCCAA others(11): Show TGCTCCAAAGCCTCCCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	394	0.0025	-18	c.-19 others(29): Show c.-1954_-1937delCCAGGGAGGCTTTGGAGC		SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding					1878		chr22	TogoVar
SEC16A_chr9_136435105_136488040	136482900	TCCCGCGC others(11): Show TCCCGCGCTCGCCCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp1 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	304	0.0066	-18	c.-19 others(33): Show c.-192+20_-192+37delTGAGGGGGCGAGCGCGGG		SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	1/31						chr9	TogoVar
SEC16B_chr1_177923788_177975058	177928087	CCAAGTAT others(11): Show CCAAGTATAAGTGGACCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(105): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01517.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010 a0018 a0023	a0001c0005 a0002c0001 a0004c0002 others(15): Show a0001c0005 a0002c0001 a0004c0002 a0004c0010 a0004c0067 a0005c0011 a0005c0016 a0007c0014 a0007c0029 a0007c0034 a0007c0049 a0009c0015 a0009c0030 a0010c0035 a0010c0070 a0018c0045 a0018c0068 a0023c0071	a0001c0005t0002 a0002c0001t0002 a0002c0001t0014 others(18): Show a0001c0005t0002 a0002c0001t0002 a0002c0001t0014 a0002c0001t0020 a0004c0002t0008 a0004c0010t0002 a0004c0010t0008 a0004c0067t0008 a0005c0011t0002 a0005c0016t0002 a0007c0014t0002 a0007c0029t0002 a0007c0034t0002 a0007c0049t0002 a0009c0015t0002 a0009c0030t0002 a0010c0035t0002 a0010c0070t0002 a0018c0045t0002 a0018c0068t0002 a0023c0071t0002	a0001c0005t0002g0108 a0001c0005t0002g0221 a0001c0005t0002g0272 others(74): Show a0001c0005t0002g0108 a0001c0005t0002g0221 a0001c0005t0002g0272 a0002c0001t0002g0002 a0002c0001t0002g0005 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0018 a0002c0001t0002g0023 a0002c0001t0002g0036 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0046 a0002c0001t0002g0070 a0002c0001t0002g0083 a0002c0001t0002g0094 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0138 a0002c0001t0002g0140 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0148 a0002c0001t0002g0150 a0002c0001t0002g0152 a0002c0001t0002g0172 a0002c0001t0002g0206 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0281 a0002c0001t0002g0291 a0002c0001t0002g0295 a0002c0001t0002g0305 a0002c0001t0014g0304 a0002c0001t0020g0308 a0004c0002t0008g0038 a0004c0010t0002g0278 a0004c0010t0008g0264 a0004c0067t0008g0200 a0005c0011t0002g0013 a0005c0011t0002g0014 a0005c0011t0002g0063 a0005c0011t0002g0118 a0005c0016t0002g0229 a0007c0014t0002g0087 a0007c0014t0002g0163 a0007c0014t0002g0164 a0007c0014t0002g0176 a0007c0014t0002g0178 a0007c0029t0002g0186 a0007c0029t0002g0209 a0007c0034t0002g0128 a0007c0034t0002g0289 a0007c0049t0002g0179 a0009c0015t0002g0022 a0009c0015t0002g0202 a0009c0015t0002g0204 a0009c0030t0002g0183 a0009c0030t0002g0184 a0010c0035t0002g0297 a0010c0035t0002g0298 a0010c0070t0002g0203 a0018c0045t0002g0218 a0018c0068t0002g0089 a0023c0071t0002g0205	108	406	0.2660	-18	c.17 others(29): Show c.1753_*1770delTGGGTCCACTTATACTTG		SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding					700		chr1	TogoVar
SEC16B_chr1_177923788_177975058	177949383	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(94): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00733.hp2 HG01074.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01517.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0015 a0020 a0021 a0030	a0001c0004 a0001c0005 a0001c0061 others(11): Show a0001c0004 a0001c0005 a0001c0061 a0002c0001 a0003c0003 a0006c0009 a0007c0014 a0008c0012 a0008c0041 a0015c0047 a0015c0062 a0020c0022 a0021c0033 a0030c0040	a0001c0004t0001 a0001c0005t0001 a0001c0061t0001 others(14): Show a0001c0004t0001 a0001c0005t0001 a0001c0061t0001 a0002c0001t0002 a0002c0001t0014 a0002c0001t0020 a0003c0003t0003 a0006c0009t0004 a0007c0014t0002 a0008c0012t0001 a0008c0012t0011 a0008c0041t0007 a0015c0047t0004 a0015c0062t0004 a0020c0022t0003 a0021c0033t0003 a0030c0040t0001	a0001c0004t0001g0102 a0001c0005t0001g0024 a0001c0061t0001g0269 others(64): Show a0001c0004t0001g0102 a0001c0005t0001g0024 a0001c0061t0001g0269 a0002c0001t0002g0002 a0002c0001t0002g0005 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0018 a0002c0001t0002g0023 a0002c0001t0002g0036 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0046 a0002c0001t0002g0070 a0002c0001t0002g0083 a0002c0001t0002g0094 a0002c0001t0002g0121 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0140 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0148 a0002c0001t0002g0152 a0002c0001t0002g0172 a0002c0001t0002g0206 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0281 a0002c0001t0002g0291 a0002c0001t0002g0295 a0002c0001t0002g0305 a0002c0001t0014g0304 a0002c0001t0020g0308 a0003c0003t0003g0270 a0006c0009t0004g0006 a0006c0009t0004g0095 a0006c0009t0004g0135 a0006c0009t0004g0139 a0006c0009t0004g0211 a0006c0009t0004g0250 a0006c0009t0004g0294 a0007c0014t0002g0087 a0007c0014t0002g0163 a0007c0014t0002g0164 a0008c0012t0001g0037 a0008c0012t0001g0141 a0008c0012t0001g0147 a0008c0012t0001g0249 a0008c0012t0011g0069 a0008c0041t0007g0151 a0015c0047t0004g0122 a0015c0062t0004g0265 a0020c0022t0003g0144 a0020c0022t0003g0213 a0021c0033t0003g0049 a0030c0040t0001g0096	97	204	0.4755	-18	c.154 others(37): Show c.1546-1459_1546-1442delGTGTGTGTGTGTGTGTGT		SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	12/25						chr1	TogoVar
SEC16B_chr1_177923788_177975058	177955424	TGCAACCT others(11): Show TGCAACCTCCACTTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	406	0.0025	-18	c.136 others(37): Show c.1366-1066_1366-1049delCTGGGAAGTGGAGGTTGC		SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	10/25						chr1	TogoVar
SEC23A_chr14_39026919_39108235	39065997	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 NA18995.hp1 HG01123.hp1 HG01167.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0129 a0001c0001t0004g0169 a0001c0005t0001g0143 a0001c0001t0001g0129 a0001c0001t0004g0169 a0001c0005t0001g0143	3	95	0.0316	-18	c.122 others(37): Show c.1228-1022_1228-1005delTTTTTTTTTTTTTTTTTT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39089469	CGCTTCCT others(11): Show CGCTTCCTGTGCTCCTGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(59): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG02056.hp2 HG02071.hp2 HG02155.hp1 HG02293.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0300 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0004g0012 a0001c0001t0004g0158 a0001c0001t0004g0169 a0001c0005t0001g0143 a0001c0005t0001g0144	62	364	0.1703	-18	c.603 others(35): Show c.603+1990_603+2007delTTCAGGAGCACAGGAAGC		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	5/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094389	CACACACA others(11): Show CACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18943.hp1 NA18977.hp2 others(1): Show NA18939.hp1 NA18943.hp1 NA18977.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0054 a0001c0003t0001g0055 others(1): Show a0001c0003t0001g0036 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0113	4	327	0.0122	-18	c.222 others(35): Show c.222-1163_222-1146delATATATATATGTGTGTGT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094391	CACACACA others(11): Show CACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG02129.hp2 others(3): Show HG00140.hp1 HG00642.hp1 HG02129.hp2 HG02572.hp1 NA19004.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0154 others(3): Show a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0154 a0001c0003t0001g0339 a0002c0002t0001g0311 a0002c0002t0001g0329	6	306	0.0196	-18	c.222 others(35): Show c.222-1165_222-1148delATATATATATATGTGTGT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094393	CACACATA others(11): Show CACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	353	0.0028	-18	c.222 others(35): Show c.222-1167_222-1150delATATATATATATATGTGT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00741.hp1 others(9): Show HG00099.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01975.hp1 HG02293.hp1 HG02976.hp2 NA18960.hp2 NA18998.hp2 NA18999.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0115 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337	12	355	0.0338	-18	c.222 others(35): Show c.222-1200_222-1183delAATATATATATATATATA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094430	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02145.hp2 others(8): Show HG01109.hp2 HG01261.hp1 HG02145.hp2 HG02559.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03471.hp2 NA19060.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0245 a0001c0001t0002g0246 others(7): Show a0001c0001t0002g0003 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0002c0002t0001g0151 a0002c0002t0001g0206	11	345	0.0319	-18	c.222 others(35): Show c.222-1204_222-1187delAAAAAATATATATATATA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01358.hp1 others(26): Show HG00408.hp1 HG00673.hp1 HG01358.hp1 HG01433.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02602.hp1 HG02717.hp1 HG02818.hp1 HG03579.hp2 HG03942.hp2 NA18941.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18997.hp1 NA19004.hp1 NA19010.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0008	a0001c0001t0001g0351 a0001c0003t0001g0208 a0002c0002t0001g0182 others(26): Show a0001c0001t0001g0351 a0001c0003t0001g0208 a0002c0002t0001g0182 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0008g0194	29	336	0.0863	-18	c.222 others(35): Show c.222-1206_222-1189delAAAAAAAATATATATATA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094434	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19067.hp1 NA19077.hp2 HG02300.hp1 NA19067.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0184 a0002c0002t0001g0231 a0002c0002t0001g0011 a0002c0002t0001g0184 a0002c0002t0001g0231	3	342	0.0088	-18	c.222 others(35): Show c.222-1208_222-1191delAAAAAAAAAATATATATA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23IP_chr10_119887730_119949657	119892146	AAAAACAA others(11): Show AAAAACAAAAAACAAATGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	398	0.0025	-18	c.-63 others(27): Show c.-636_-619delAAAACAAAAAACAAATGC		SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding					583		chr10	TogoVar
SEC24A_chr5_134643785_134732909	134665874	GTAAACAA others(11): Show GTAAACAAAATTAACAAAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	316	0.0032	-18	c.566 others(33): Show c.566-946_566-929delAACAAAATTAACAAAATA		SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	23	0.0435	-18	c.133 others(35): Show c.133+5500_133+5517delTTTTTTTTTTTTTTTTTT		SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr4	TogoVar

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