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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	120	0.0083	30	c.533 others(45): Show c.533+799_533+800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAATATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	70	0.0143	30	c.760 others(43): Show c.760-23_760-22insATATAATATATATATTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	70	0.0143	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp2 NA18944.hp1 others(3): Show HG02040.hp2 HG02602.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0018 a0001c0001t0002g0054 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0081 a0001c0001t0016g0065	6	75	0.0800	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	70	0.0143	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATATTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAATATA others(23): Show AAAATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp2 HG02622.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0138 a0001c0001t0007g0141 a0001c0001t0007g0138 a0001c0001t0007g0141	2	71	0.0282	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATATATGTATATTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414454	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0235 a0001c0004t0010g0235	1	241	0.0041	30	c.39+ others(45): Show c.39+1151_39+1152insTGTGTGTGTGTGTGTGTGTGTGTGTGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(23): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp1 HG02135.hp2 others(7): Show HG01099.hp1 HG01978.hp1 HG02135.hp2 HG02155.hp1 NA18948.hp2 NA18952.hp1 NA18969.hp1 NA18969.hp2 NA18990.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 a0001c0002t0017	a0001c0001t0001g0020 a0001c0001t0001g0204 a0001c0001t0001g0248 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0014g0087 a0001c0002t0003g0032 a0001c0002t0003g0193 a0001c0002t0017g0077	10	219	0.0457	30	c.196 others(47): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA AT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERP2_chr13_44368824_44402714	44388541	A A	AGAGCCTG others(23): Show AGAGCCTGTGAGGTTTATCAGGCACCATCCG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	352	0.0028	30	c.158 others(47): Show c.158-8730_158-8701dupGAGCCTGTGAGGTTTATCAGGCACCATC CG	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA11_chr14_94437464_94457800	94449509	T T	TTCTTTTT others(23): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	449	0.0045	30	c.-3- others(43): Show c.-3-733_-3-732insGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	26	0.0385	30	c.-4+ others(43): Show c.-4+101_-4+130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(23): Show GTTCTATTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01070.hp2 others(12): Show HG00438.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG02056.hp1 HG02258.hp1 HG02615.hp1 HG03453.hp1 HG03688.hp2 HG03704.hp1 NA18954.hp2 NA18968.hp1 NA19004.hp1 NA19012.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0008 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0007t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0006 a0002c0002t0001 a0002c0002t0012 a0002c0008t0024 a0003c0003t0003 a0003c0003t0006	a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0002g0021 a0001c0001t0002g0115 a0001c0007t0006g0101 a0002c0002t0001g0228 a0002c0002t0012g0254 a0002c0008t0024g0271 a0003c0003t0003g0025 a0003c0003t0006g0110	15	107	0.1402	30	c.103 others(47): Show c.1039-473_1039-444dupATTCTATTCTATTCTATTCTATTCTATT CT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63709616	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01358.hp1 others(28): Show HG00673.hp2 HG01109.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02738.hp1 HG03098.hp1 HG03942.hp2 NA18612.hp2 NA18747.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18985.hp1 NA18988.hp1 NA18999.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0001 a0003c0003 a0010c0018 a0002c0001 a0003c0003 a0010c0018	a0002c0001t0001 a0003c0003t0001 a0010c0018t0002 a0002c0001t0001 a0003c0003t0001 a0010c0018t0002	a0002c0001t0001g0012 a0002c0001t0001g0049 a0002c0001t0001g0072 others(8): Show a0002c0001t0001g0012 a0002c0001t0001g0049 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0003c0003t0001g0004 a0003c0003t0001g0034 a0003c0003t0001g0084 a0010c0018t0002g0004 a0010c0018t0002g0085	31	235	0.1319	30	c.-15 others(45): Show c.-15-559_-15-530dupTAAAATAAAATAAAATAAAATAAAATAAAA	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(25): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01168.hp2 HG01975.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02698.hp1 HG03017.hp1 HG03130.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18966.hp1 NA18970.hp2 NA18998.hp2 NA19002.hp2 NA19054.hp2 NA19064.hp2 NA19066.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0127 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0024g0021	28	250	0.1120	30	c.304 others(45): Show c.304-519_304-518insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB13_chr18_63582343_63604192	63589705	A A	AAAAAGAG others(23): Show AAAAAGAGGTGGTAAGAATAAAGGCTGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0007 a0006c0010t0002g0007	1	438	0.0023	30	c.225 others(42): Show c.225+2_225+31dupTAAGAATAAAGGCTGAAGGAAAAGAGGTGG	SERPINB13	ENSG00000197641.12	transcript	ENST00000344731.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB4_chr18_63632259_63649256	63648886	A A	ACCCCCCC others(23): Show ACCCCCCCCCCCCCCCCCCCCCCCCCACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	30	c.-47 others(41): Show c.-4705_-4704insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG	SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding		4631		chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCTCAC others(23): Show TCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0119 a0001c0001t0105 a0001c0001t0119	a0001c0001t0105g0286 a0001c0001t0119g0285 a0001c0001t0105g0286 a0001c0001t0119g0285	2	123	0.0163	30	c.-10 others(45): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGTGTGTGTGTGAGAG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPINE1_chr7_101122104_101144247	101136454	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	418	0.0024	30	c.108 others(47): Show c.1088-536_1088-535insAAGAAAGAAAGAAAGAAAGAGAAAGAAA GA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TTATATAT others(23): Show TTATATATTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0259 a0001c0002t0002g0288 a0001c0002t0002g0259 a0001c0002t0002g0288	2	253	0.0079	30	c.-22 others(47): Show c.-22-3144_-22-3143insTATATATATATATATATATATAAATATA TA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02258.hp2 HG03130.hp2 others(3): Show HG02132.hp1 HG02258.hp2 HG03130.hp2 HG03490.hp2 NA18747.hp1 NA19010.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0225 a0002c0002t0001g0061 a0002c0002t0001g0062 a0004c0005t0001g0031	6	127	0.0472	30	c.-19 others(49): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18982.hp1 HG03471.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0088 a0001c0001t0002g0061 a0001c0001t0002g0088	2	378	0.0053	30	c.-17 others(49): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM1_chr13_36669020_36702839	36697306	C C	CATAAATA others(23): Show CATAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0099 a0001c0001t0044g0099	1	417	0.0024	30	c.19 others(41): Show c.1905_*1906insTAAATATATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	2/2	1906	INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN1_chr6_108979309_109099846	109064589	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01952.hp1 HG00280.hp2 HG01175.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0027 a0002c0002t0002g0032 a0002c0002t0002g0033	3	84	0.0357	30	c.279 others(49): Show c.279+29176_279+29205dupCCCTCCCCTCCCCTCCCCTCCCCTCC CCTC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN3_chr11_95160513_95236202	95186194	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03195.hp2 HG00558.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0046 a0001c0001t0008 a0001c0002t0046	a0001c0001t0008g0200 a0001c0002t0046g0071 a0001c0001t0008g0200 a0001c0002t0046g0071	2	34	0.0588	30	c.526 others(45): Show c.526-732_526-703dupCACACACACACACACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SESTD1_chr2_179096678_179269832	179229774	T T	TATATATA others(23): Show TATATATATATATATATATATACTCAAATAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	272	0.0037	30	c.-26 others(49): Show c.-26+34724_-26+34725insGTATTTGAGTATATATATATATATAT ATAT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	78	0.0128	30	c.540 others(49): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0001 a0005c0036t0001	a0005c0036t0001g0008 a0005c0036t0001g0008	1	110	0.0091	30	c.47 others(41): Show c.4748_*4749insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03139.hp2 NA18961.hp2 others(2): Show HG01169.hp2 HG03139.hp2 NA18961.hp2 NA18995.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123	5	29	0.1724	30	c.676 others(47): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD7_chr4_139501038_139561219	139544290	C C	CTAAAATA others(23): Show CTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02293.hp2 HG00140.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0001g0146 a0001c0001t0001g0219	2	145	0.0138	30	c.170 others(47): Show c.170+2600_170+2629dupTTTTATTTTATTTTATTTTATTTTATTT TA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26348632	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0158 a0005c0011t0001g0158	1	223	0.0045	30	c.240 others(47): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAAAGAAAGAAAGA AA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0008 a0001c0003t0001 a0002c0002t0008	a0001c0003t0001g0102 a0002c0002t0008g0094 a0001c0003t0001g0102 a0002c0002t0008g0094	2	86	0.0233	30	c.279 others(49): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	12	0.0833	30	c.495 others(45): Show c.495+245_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	77	0.0130	30	c.124 others(49): Show c.1249-1638_1249-1637insATATATATATATATATATATATATAT TTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928641	T T	TATACATA others(23): Show TATACATATATATACATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02922.hp2 others(5): Show HG02486.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167	8	316	0.0253	30	c.898 others(45): Show c.898-301_898-300insGTATATATGTATATATGTATATATATGTAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02083.hp2 NA18987.hp2 others(1): Show HG01169.hp1 HG02083.hp2 NA18987.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0175 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0175 a0001c0001t0001g0262 a0001c0001t0002g0014	4	121	0.0331	30	c.124 others(47): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02698.hp1 NA18962.hp2 others(5): Show HG02293.hp2 HG02698.hp1 NA18962.hp2 NA18982.hp1 NA19057.hp2 NA19065.hp1 NA19072.hp1 NA20905.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0012c0024	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0012c0024t0001	a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0276 a0001c0002t0001g0287 a0001c0002t0001g0299 a0003c0005t0001g0199 a0012c0024t0001g0131	8	40	0.2000	30	c.240 others(49): Show c.2409-2670_2409-2641dupTATATATATATATATATATATATATA TATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796017	A A	AGAGGGGG others(23): Show AGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	316	0.0032	30	c.253 others(49): Show c.2535-1137_2535-1136insGGGAGGGAGGGGGAGGGGAGGGGAGG GGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047243	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	137	0.0073	30	c.172 others(47): Show c.172-6313_172-6312insGTATATATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	236	0.0042	30	c.172 others(47): Show c.172-6317_172-6316insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	236	0.0042	30	c.172 others(47): Show c.172-6317_172-6316insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	233	0.0043	30	c.172 others(47): Show c.172-6319_172-6318insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA20905.hp1 HG01255.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0127 a0001c0001t0001g0146	2	234	0.0085	30	c.172 others(47): Show c.172-6319_172-6318insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	228	0.0044	30	c.172 others(47): Show c.172-6321_172-6320insGTGTGTGTGTATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	228	0.0044	30	c.172 others(47): Show c.172-6321_172-6320insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047283	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03927.hp2 HG01978.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0162 a0001c0001t0001g0109 a0001c0001t0002g0162	2	235	0.0085	30	c.172 others(47): Show c.172-6353_172-6352insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(23): Show GCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0003 a0002c0005t0009g0004 a0002c0005t0009g0003 a0002c0005t0009g0004	2	72	0.0278	30	c.171 others(47): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp1 HG00597.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0072 a0001c0002t0001g0058 a0001c0002t0001g0072	2	72	0.0278	30	c.171 others(47): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGCG CG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG02145.hp2 others(7): Show HG01891.hp2 HG02040.hp2 HG02145.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 NA18953.hp1 NA19003.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019 a0001c0002t0044 a0001c0002t0052 a0001c0002t0058	a0001c0002t0002g0080 a0001c0002t0004g0106 a0001c0002t0005g0097 others(7): Show a0001c0002t0002g0080 a0001c0002t0004g0106 a0001c0002t0005g0097 a0001c0002t0010g0005 a0001c0002t0013g0032 a0001c0002t0015g0081 a0001c0002t0019g0031 a0001c0002t0044g0026 a0001c0002t0052g0111 a0001c0002t0058g0089	10	82	0.1220	30	c.192 others(47): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156504392	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0064 a0001c0001t0022g0064	1	77	0.0130	30	c.193 others(47): Show c.193-4205_193-4176dupATATATATATATATATATATATATATAT AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03669.hp2 HG00099.hp1 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0288 a0001c0004t0002g0299 a0001c0004t0002g0288 a0001c0004t0002g0299	2	108	0.0185	30	c.386 others(47): Show c.386-4216_386-4215insTATATATATATATATATATATATATATA TA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar

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