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
SEMA5A_chr5_9030033_9551075	9409859	AACTCTGT others(29): Show AACTCTGTGGTTTTAACAAACACATAACAATGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG02040.hp2 others(24): Show HG00280.hp2 HG00673.hp1 HG02040.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03654.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp2 NA19012.hp1 NA19043.hp1 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0001c0017 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0030 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0002t0009 a0001c0002t0063 a0001c0003t0041 a0001c0003t0072 a0001c0003t0079 a0001c0003t0080 a0001c0004t0001 a0001c0005t0002 a0001c0005t0042 a0001c0005t0065 a0001c0007t0034 a0001c0010t0075 a0001c0015t0008 a0001c0017t0074 a0004c0019t0059	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0076 others(24): Show a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0016g0090 a0001c0001t0019g0118 a0001c0001t0030g0032 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0001t0064g0127 a0001c0002t0009g0003 a0001c0002t0063g0100 a0001c0003t0041g0016 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0003t0080g0132 a0001c0004t0001g0039 a0001c0005t0002g0115 a0001c0005t0042g0070 a0001c0005t0065g0123 a0001c0007t0034g0033 a0001c0010t0075g0107 a0001c0015t0008g0112 a0001c0017t0074g0105 a0004c0019t0059g0089	27	132	0.2045	-36	c.-78 others(55): Show c.-78+27861_-78+27896delGGGGGCATTGTTATGTGTTTGTTAAA ACCACAGAGT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48057010	CATATTAC others(29): Show CATATTACATATATAAATATATTATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03834.hp1 HG00438.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0322 a0001c0001t0002g0310 a0001c0001t0002g0322	2	377	0.0053	-36	c.140 others(55): Show c.1407+6664_1407+6699delATAATATATTAAATAATATATTTATA TATGTAATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48057010	CATATTAC others(29): Show CATATTACATATATAAATATATTATTTAATATATTAT	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	376	0.0027	-36	c.140 others(55): Show c.1407+6665_1407+6700delTAATATATTAAATAATATATTTATAT ATGTAATATG	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	316	0.0032	-36	c.39 others(45): Show c.391_*426delTATATATATATATATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	391	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571874	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG02280.hp2 others(5): Show HG00639.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 NA19011.hp2 NA19057.hp1 NA19087.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0095 a0001c0001t0006g0007	8	415	0.0193	-36	c.39 others(45): Show c.393_*428delTATATATATATATATATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	393	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571876	TATATATA others(29): Show TATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00741.hp1 others(13): Show HG00609.hp1 HG00735.hp1 HG00741.hp1 HG01261.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02451.hp2 HG04199.hp1 NA18951.hp2 NA18978.hp1 NA18984.hp2 NA19063.hp1 NA19076.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0001t0002 a0001c0001t0005 a0001c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0055 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0005g0013 a0001c0004t0002g0001	16	439	0.0364	-36	c.40 others(45): Show c.401_*436delTATATATATATATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	401	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp2 HG02559.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	301	0.0066	-36	c.169 others(53): Show c.169+5390_169+5425delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19068.hp1 HG03710.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0266 a0001c0001t0001g0180 a0001c0001t0001g0266	2	285	0.0070	-36	c.169 others(53): Show c.169+5394_169+5429delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(29): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG03704.hp1 others(1): Show HG01081.hp2 HG02451.hp2 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0003t0002	a0001c0001t0002g0120 a0001c0001t0003g0097 a0001c0001t0023g0089 others(1): Show a0001c0001t0002g0120 a0001c0001t0003g0097 a0001c0001t0023g0089 a0001c0003t0002g0085	4	297	0.0135	-36	c.169 others(53): Show c.169+5398_169+5433delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(29): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02155.hp2 HG02300.hp2 others(10): Show HG00597.hp2 HG02155.hp2 HG02300.hp2 HG06807.hp2 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18960.hp1 NA18978.hp2 NA18979.hp2 NA18997.hp2 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0001c0001t0033	a0001c0001t0001g0314 a0001c0001t0006g0001 a0001c0001t0006g0027 others(8): Show a0001c0001t0001g0314 a0001c0001t0006g0001 a0001c0001t0006g0027 a0001c0001t0006g0053 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0066 a0001c0001t0021g0059 a0001c0001t0033g0061	13	298	0.0436	-36	c.169 others(53): Show c.169+5402_169+5437delTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERGEF_chr11_17783048_18018047	17998432	CATACATA others(29): Show CATACATACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02056.hp2 HG02074.hp1 others(8): Show HG02015.hp1 HG02056.hp2 HG02074.hp1 HG03669.hp1 NA18968.hp2 NA18972.hp2 NA18998.hp2 NA19004.hp2 NA19057.hp2 NA19080.hp1 NA19085.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(8): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0134 a0010c0013t0001g0112	11	206	0.0534	-36	c.508 others(53): Show c.508+2029_508+2064delATATATATATATATATATATATATATAT GTATGTAT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10			chr11	TogoVar
SERINC5_chr5_80133727_80261048	80197308	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	5	0.2000	-36	c.195 others(53): Show c.195+5542_195+5577delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINB5_chr18_63471958_63510085	63498077	GTTGTTGT others(29): Show GTTGTTGTTATTGTTCTGTTTTGTTTTGAGATGGAGT	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0181 a0004c0007t0002g0181	1	408	0.0025	-36	c.568 others(53): Show c.568-1042_568-1007delTTGTTGTTATTGTTCTGTTTTGTTTTGA GATGGAGT	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6			chr18	TogoVar
SETD4_chr21_36029541_36065526	36032636	CCTATTGT others(29): Show CCTATTGTGGGGGCTGCTGTGTGTGGGGGTCGCTGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp1 others(72): Show HG00597.hp1 HG00597.hp2 HG00621.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01257.hp1 HG01361.hp2 HG01496.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02300.hp1 HG02683.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0006 a0001c0002t0001 a0001c0002t0011 others(1): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0011 a0001c0009t0001	a0001c0001t0006g0043 a0001c0001t0006g0167 a0001c0002t0001g0003 others(32): Show a0001c0001t0006g0043 a0001c0001t0006g0167 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0159 a0001c0002t0011g0051 a0001c0009t0001g0084	75	392	0.1913	-36	c.33 others(47): Show c.3321_*3356delAACAGCGACCCCCACACACAGCAGCCCCCACAAT AG	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		1904		chr21	TogoVar
SFSWAP_chr12_131706090_131804738	131801618	CTGTGGCC others(29): Show CTGTGGCCTGTGTTTGCCGTGGCTGTTCATGTTTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	316	0.0032	-36	c.21 others(47): Show c.2131_*2166delTGTGGCCTGTGTTTGCCGTGGCTGTTCATGTTTG CT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1881		chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166347012	CAGAAGGG others(29): Show CAGAAGGGTGCTTGGGACAAGGGTTTGTTAATTCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	386	0.0026	-36	c.-45 others(47): Show c.-4567_-4532delAATGAATTAACAAACCCTTGTCCCAAGCACCCTT CT	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4468		chr6	TogoVar
SFTPD_chr10_79932740_79954105	79951455	CATAGATA others(29): Show CATAGATAGCTTTTGTGTGGTGGCTTTATTATGCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18977.hp1 NA18953.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	422	0.0047	-36	c.-24 others(47): Show c.-2429_-2394delACAGCATAATAAAGCCACCACACAAAAGCTATCT AT	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		2351		chr10	TogoVar
SGCB_chr4_52015706_52043299	52040381	TTGCAGAT others(29): Show TTGCAGATTGCTATAGAATGAATGTTTGTGTCTCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	1	368	0.0027	-36	c.-21 others(47): Show c.-2158_-2123delGGGGAGACACAAACATTCATTCTATAGCAATCTG CA	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding		2083		chr4	TogoVar
SGCE_chr7_94579980_94661133	94604806	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00609.hp2 others(61): Show HG00323.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG03492.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(52): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0103 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0318	64	115	0.5565	-36	c.663 others(53): Show c.663-1390_663-1355delATATATATATATATATATATATATATAT ATATATAT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	5/10			chr7	TogoVar
SGIP1_chr1_66529153_66756139	66549137	GCCTTCCT others(29): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	52	0.0192	-36	c.10+ others(53): Show c.10+14796_10+14831delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589163	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0147 a0001c0001t0002g0153	2	65	0.0308	-36	c.11- others(53): Show c.11-36665_11-36630delATATATATATATATATATATATATATAT ATATATAT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK3_chr8_66707781_66867022	66775861	TTTTGAAT others(29): Show TTTTGAATCTACTTATTAACTGCGAAAACTTGGGCAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02559.hp1 others(6): Show HG01070.hp2 HG01071.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0017 a0001c0002t0003g0018 others(6): Show a0001c0002t0003g0012 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0060 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071	9	140	0.0643	-36	c.-12 others(57): Show c.-121-17750_-121-17715delAATCTACTTATTAACTGCGAAAAC TTGGGCAATTTG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	53	0.0189	-36	c.742 others(51): Show c.742-480_742-445delATATATATATATATATATATATATATATAT ATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50400396	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp1 HG02809.hp2 others(3): Show HG01496.hp2 HG02451.hp1 HG02809.hp2 HG03471.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0263 a0001c0002t0001g0245 a0001c0002t0006g0002 others(3): Show a0001c0001t0001g0263 a0001c0002t0001g0245 a0001c0002t0006g0002 a0001c0002t0006g0003 a0001c0002t0006g0004 a0001c0002t0006g0005	6	16	0.3750	-36	c.-23 others(57): Show c.-232+33044_-232+33079delATATATATATATATATATATATAT ATATATATATAT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900340	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02717.hp2 others(3): Show HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp1 HG03540.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0008 a0003c0019 a0006c0040 others(1): Show a0003c0008 a0003c0019 a0006c0040 a0009c0032	a0003c0008t0001 a0003c0008t0003 a0003c0019t0004 others(2): Show a0003c0008t0001 a0003c0008t0003 a0003c0019t0004 a0006c0040t0012 a0009c0032t0022	a0003c0008t0001g0004 a0003c0008t0001g0015 a0003c0008t0003g0325 others(3): Show a0003c0008t0001g0004 a0003c0008t0001g0015 a0003c0008t0003g0325 a0003c0019t0004g0187 a0006c0040t0012g0304 a0009c0032t0022g0309	6	167	0.0359	-36	c.261 others(55): Show c.2611-1460_2611-1425delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24900373	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp1 NA20129.hp2 HG02622.hp1 HG03209.hp1 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0034 a0004c0016 a0004c0041 a0003c0034 a0004c0016 a0004c0041	a0003c0034t0016 a0004c0016t0041 a0004c0041t0016 a0003c0034t0016 a0004c0016t0041 a0004c0041t0016	a0003c0034t0016g0337 a0004c0016t0041g0124 a0004c0041t0016g0042 a0003c0034t0016g0337 a0004c0016t0041g0124 a0004c0041t0016g0042	3	336	0.0089	-36	c.261 others(55): Show c.2611-1458_2611-1423delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTGT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BGRL2_chr6_79626329_79708655	79629441	GGACCCTT others(29): Show GGACCCTTACAACCTCTAGGATCAGAGGAAAGGAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	346	0.0029	-36	c.-20 others(47): Show c.-2020_-1985delGACCCTTACAACCTCTAGGATCAGAGGAAAGGAG CA	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding		1887		chr6	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282338	GCCGGGAC others(29): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02257.hp1 others(6): Show HG00639.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02723.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0006	9	418	0.0215	-36	c.12 others(47): Show c.1216_*1251delCCGGGACCGGGACCGGGACTGGGGCCGGGACCGG GA	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		817		chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19634031	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	25	0.0400	-36	c.803 others(53): Show c.803-2109_803-2074delACACACACACACACACACACACACACAC ACACACAC	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	7/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760023	CCTCTCTC others(29): Show CCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02083.hp1 HG01167.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0090 a0001c0001t0001g0031 a0001c0001t0001g0090	2	174	0.0115	-36	c.163 others(55): Show c.163-13618_163-13583delAGAGAGAGAGAGAGAGAGGGAGAGAG AGAGAGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810916	ACACGGAG others(29): Show ACACGGAGACACACACATGGACACAGGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01106.hp2 others(20): Show HG00280.hp2 HG00741.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG04199.hp2 HG06807.hp2 NA19030.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0011c0020	a0001c0001t0003 a0001c0001t0024 a0001c0001t0040 others(18): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0040 a0001c0001t0042 a0001c0001t0091 a0001c0002t0009 a0001c0002t0025 a0001c0002t0047 a0001c0002t0049 a0001c0003t0003 a0001c0003t0015 a0001c0003t0101 a0001c0004t0001 a0001c0004t0020 a0001c0005t0007 a0001c0005t0016 a0001c0008t0027 a0001c0008t0126 a0001c0008t0127 a0001c0010t0038 a0011c0020t0123	a0001c0001t0003g0186 a0001c0001t0024g0172 a0001c0001t0040g0234 others(19): Show a0001c0001t0003g0186 a0001c0001t0024g0172 a0001c0001t0040g0234 a0001c0001t0042g0162 a0001c0001t0091g0235 a0001c0002t0009g0190 a0001c0002t0025g0001 a0001c0002t0047g0240 a0001c0002t0049g0188 a0001c0003t0003g0210 a0001c0003t0015g0181 a0001c0003t0101g0182 a0001c0004t0001g0087 a0001c0004t0020g0183 a0001c0005t0007g0187 a0001c0005t0016g0242 a0001c0008t0027g0175 a0001c0008t0126g0163 a0001c0008t0127g0090 a0001c0010t0038g0092 a0001c0010t0038g0093 a0011c0020t0123g0189	23	248	0.0927	-36	c.73- others(51): Show c.73-9590_73-9555delCGCGCGCGCGCCTGTGTCCATGTGTGTGTC TCCGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348675	CTATCTAT others(29): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00099.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0176 a0001c0001t0012g0258 a0001c0001t0001g0176 a0001c0001t0012g0258	2	270	0.0074	-36	c.101 others(55): Show c.1013-1379_1013-1344delAATAGATAGATAGATAGATAGATAGA TAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169145942	ATATTATT others(29): Show ATATTATTCTATATAAAATATTACATATTCTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0051 a0001c0006t0003g0051	1	206	0.0049	-36	c.766 others(53): Show c.766-9358_766-9323delATATATAGAATATGTAATATTTTATATA GAATAATA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(29): Show GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01346.hp1 others(6): Show HG01069.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG02074.hp2 HG02886.hp1 NA18942.hp1 NA18992.hp2 NA19012.hp1	a0002 a0003 a0020 a0002 a0003 a0020	a0002c0002 a0003c0003 a0020c0021 a0002c0002 a0003c0003 a0020c0021	a0002c0002t0001 a0003c0003t0001 a0020c0021t0001 a0002c0002t0001 a0003c0003t0001 a0020c0021t0001	a0002c0002t0001g0014 a0002c0002t0001g0057 a0002c0002t0001g0129 others(6): Show a0002c0002t0001g0014 a0002c0002t0001g0057 a0002c0002t0001g0129 a0002c0002t0001g0241 a0003c0003t0001g0031 a0003c0003t0001g0066 a0003c0003t0001g0220 a0003c0003t0001g0235 a0020c0021t0001g0234	9	203	0.0443	-36	c.19 others(47): Show c.1956_*1991delAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064664	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01496.hp2 HG01952.hp1 others(5): Show HG01346.hp2 HG01496.hp2 HG01952.hp1 HG02615.hp2 HG02976.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0005c0004t0001 a0001c0001t0001 a0001c0001t0002 a0005c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0261 a0001c0001t0002g0020 a0001c0001t0002g0130 a0001c0001t0002g0145 a0005c0004t0001g0147	8	247	0.0324	-36	c.19 others(47): Show c.1964_*1999delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1373		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064699	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG03017.hp1 HG00099.hp2 HG01106.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0078 a0002c0002t0001g0265 a0002c0002t0001g0064 a0002c0002t0001g0078 a0002c0002t0001g0265	3	263	0.0114	-36	c.19 others(47): Show c.1999_*2034delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1408		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064799	GGAAGGAA others(29): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0032	1	216	0.0046	-36	c.20 others(47): Show c.2099_*2134delGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1508		chr5	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03516.hp2 NA18522.hp2 HG00140.hp2 HG03516.hp2 NA18522.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0006c0007t0001 a0002c0002t0001 a0006c0007t0001	a0002c0002t0001g0038 a0006c0007t0001g0300 a0006c0007t0001g0301 a0002c0002t0001g0038 a0006c0007t0001g0300 a0006c0007t0001g0301	3	11	0.2727	-36	c.118 others(55): Show c.1182+2561_1182+2596delTATATATATATATATATATATATATA TATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952177	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	298	0.0034	-36	c.405 others(51): Show c.405+516_405+551delATATATATATATATATATATATTTTTTTTT TTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952179	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02572.hp1 others(7): Show HG01884.hp2 HG02486.hp1 HG02572.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078	10	290	0.0345	-36	c.405 others(51): Show c.405+514_405+549delATATATATATATATATATATATATTTTTTT TTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952181	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04199.hp2 HG03688.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0125 a0001c0003t0001g0110 a0001c0003t0001g0125	2	270	0.0074	-36	c.405 others(51): Show c.405+512_405+547delATATATATATATATATATATATATATTTTT TTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952201	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	293	0.0034	-36	c.405 others(51): Show c.405+492_405+527delGTATATATATATATATATATATATATATAT ATATAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHD_chr19_4274266_4295722	4286226	CTTTCTTT others(29): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	374	0.0027	-36	c.716 others(53): Show c.716+1323_716+1358delTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5			chr19	TogoVar
SHISA6_chr17_11236213_11569063	11388790	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0137 a0001c0003t0034g0137	1	26	0.0385	-36	c.895 others(53): Show c.895+9297_895+9332delATATATATATATATATATATATATATAT ATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12943306	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0116 a0001c0002t0006g0116	1	208	0.0048	-36	c.691 others(55): Show c.691+26493_691+26528delTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943308	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 NA19010.hp1 HG01993.hp2 HG02280.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0071 a0001c0001t0003 a0001c0001t0031 a0001c0001t0071	a0001c0001t0003g0191 a0001c0001t0031g0082 a0001c0001t0071g0007 a0001c0001t0003g0191 a0001c0001t0031g0082 a0001c0001t0071g0007	3	207	0.0145	-36	c.691 others(55): Show c.691+26495_691+26530delTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 NA18612.hp1 others(1): Show HG00558.hp1 HG02155.hp2 NA18612.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 others(1): Show a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0051	a0001c0001t0012g0150 a0001c0001t0015g0190 a0001c0001t0019g0024 others(1): Show a0001c0001t0012g0150 a0001c0001t0015g0190 a0001c0001t0019g0024 a0001c0001t0051g0025	4	143	0.0280	-36	c.691 others(55): Show c.691+26497_691+26532delTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02109.hp2 HG02809.hp2 others(1): Show HG01070.hp1 HG02109.hp2 HG02809.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0067 others(1): Show a0001c0001t0002 a0001c0001t0054 a0001c0001t0067 a0001c0001t0093	a0001c0001t0002g0067 a0001c0001t0054g0020 a0001c0001t0067g0015 others(1): Show a0001c0001t0002g0067 a0001c0001t0054g0020 a0001c0001t0067g0015 a0001c0001t0093g0102	4	190	0.0211	-36	c.691 others(55): Show c.691+26499_691+26534delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943314	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp1 HG00544.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0069 a0001c0001t0018g0141 a0001c0001t0001g0069 a0001c0001t0018g0141	2	202	0.0099	-36	c.691 others(55): Show c.691+26501_691+26536delTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943316	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02300.hp2 HG02738.hp2 others(4): Show HG01433.hp1 HG02300.hp2 HG02738.hp2 HG03486.hp2 HG03492.hp2 HG03669.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0047 a0001c0001t0084 a0001c0003t0008	a0001c0001t0002g0002 a0001c0001t0002g0166 a0001c0001t0003g0180 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0166 a0001c0001t0003g0180 a0001c0001t0004g0041 a0001c0001t0047g0174 a0001c0001t0084g0151 a0001c0003t0008g0001	7	210	0.0333	-36	c.691 others(55): Show c.691+26503_691+26538delTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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