Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03491.hp2 HG03239.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0232 a0002c0002t0044 a0002c0002t0232	a0002c0002t0044g0332 a0002c0002t0232g0331 a0002c0002t0044g0332 a0002c0002t0232g0331	2	372	0.0054	39	c.354 others(54): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	288	0.0035	39	c.687 others(56): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20						chr4	TogoVar
SCML4_chr6_107697154_107829313	107802689	C C	CTCTCCCT others(32): Show CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0156 a0001c0001t0013g0156	1	250	0.0040	39	c.-60 others(58): Show c.-60+21436_-60+21437insAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGA		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCN5A_chr3_38543062_38654687	38567061	A A	ATGAGATG others(32): Show ATGAGATGGCCTTAAGTGGTAGATGGATAATAAGGTAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	340	0.0029	39	c.366 others(56): Show c.3667-518_3667-480dupCTCTACCTTATTATCCATCTACCACTTA AGGCCATCTCA		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	20/27						chr3	TogoVar
SCNN1B_chr16_23297302_23386294	23343486	G G	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0290 a0001c0001t0007g0290	1	306	0.0033	39	c.-8- others(54): Show c.-8-5083_-8-5082insGGAAGGAAGGAAGGAAGAAGGAAGGAAGGA AGGAAGGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288867	T T	TCCCCCGT others(32): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	39	c.166 others(56): Show c.1662+833_1662+834insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23181709	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGGAGAGAGAGAAAGAAGAAAGAAAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02486.hp1 HG02896.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0007 a0002c0010t0003 a0002c0006t0007 a0002c0010t0003	a0002c0006t0007g0022 a0002c0010t0003g0025 a0002c0006t0007g0022 a0002c0010t0003g0025	2	320	0.0063	39	c.-11 others(50): Show c.-1149_-1148insAGGAAGGAAGGGAGAGAGAGAAAGAAGAAAGAAA GAGGG		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding					1035		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23218101	A A	ATTATATT others(32): Show ATTATATTATATTTTATATATATTATATATTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01257.hp1 others(8): Show HG01070.hp1 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0208 a0001c0001t0001g0209 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218	11	320	0.0344	39	c.26 others(50): Show c.2632_*2633insTTATATTATATTTTATATATATTATATATTATAT ATATT		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding					1219		chr16	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0148 a0008c0008t0006g0148	1	358	0.0028	39	c.120 others(56): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATATATATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0202 a0003c0003t0005g0202	1	358	0.0028	39	c.120 others(56): Show c.1208-967_1208-966insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCX_chr8_144261453_144273481	144262838	G G	GCCCCCCC others(32): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	39	c.-37 others(50): Show c.-3776_-3775insCCCCCCCCCCACCCCTCACCTGCAGGGTACACCG CCCCC		SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding					3614		chr8	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG02135.hp1 others(4): Show HG01891.hp2 HG02129.hp2 HG02135.hp1 NA18972.hp1 NA18994.hp2 NA19084.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	7	454	0.0154	39	c.-19 others(50): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					1946		chr2	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01243.hp2 others(4): Show HG00738.hp2 HG01074.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG04204.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0275 a0001c0001t0002g0093 a0001c0001t0002g0109 others(4): Show a0001c0001t0001g0275 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0003t0001g0055 a0002c0002t0001g0071	7	334	0.0210	39	c.61- others(56): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG03579.hp1 HG01081.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0182 a0001c0001t0001g0013 a0001c0001t0002g0182	2	398	0.0050	39	c.-19 others(50): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					1923		chr17	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 homoSapiens_chm13v2.hp1 HG01515.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0054 a0001c0001t0001g0056	2	330	0.0061	39	c.-48 others(50): Show c.-4854_-4853insTATATATATATATATATATATATTTTTTTTTTTT TTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding					4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	330	0.0030	39	c.-48 others(50): Show c.-4854_-4853insTATATATATATATATATATATTTTTTTTTTTTTT TTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding					4828		chr1	TogoVar
SDK1_chr7_3296252_4274000	3299677	A A	AGCTGCTG others(32): Show AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0029 a0001c0048t0001g0029	1	116	0.0086	39	c.-19 others(50): Show c.-1910_-1909insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding					1574		chr7	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	204	0.0049	39	c.559 others(58): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA TATATATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73376320	C C	CACATTGT others(32): Show CACATTGTCCCTGCTCACTGCATTATTCCCAGCTCTGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0011 a0004c0011t0011	a0004c0011t0011g0059 a0004c0011t0011g0059	1	204	0.0049	39	c.498 others(58): Show c.4980+2856_4980+2857insTCTCAGAGCTGGGAATAATGCAGTGA GCAGGGACAATGT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73376320	C C	CACATTGT others(32): Show CACATTGTCCCTGCTCACTGCGTTATTCCCAGCTCTGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01891.hp1 HG02074.hp1 others(34): Show HG00438.hp2 HG01891.hp1 HG02074.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18944.hp1 NA18961.hp2 NA18970.hp2 NA18993.hp2 NA19030.hp2 NA19066.hp1 NA19080.hp1 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0010 a0022 a0023	a0001c0001 a0001c0005 a0001c0008 others(29): Show a0001c0001 a0001c0005 a0001c0008 a0001c0010 a0001c0014 a0001c0016 a0001c0018 a0001c0024 a0001c0026 a0001c0032 a0001c0033 a0001c0053 a0001c0067 a0001c0068 a0001c0089 a0001c0093 a0001c0094 a0001c0109 a0002c0028 a0002c0029 a0002c0079 a0004c0027 a0004c0040 a0004c0054 a0005c0065 a0008c0044 a0008c0047 a0008c0069 a0008c0090 a0010c0108 a0022c0092 a0023c0091	a0001c0001t0015 a0001c0005t0024 a0001c0005t0078 others(34): Show a0001c0001t0015 a0001c0005t0024 a0001c0005t0078 a0001c0008t0085 a0001c0010t0006 a0001c0010t0043 a0001c0014t0004 a0001c0014t0006 a0001c0016t0028 a0001c0018t0008 a0001c0018t0017 a0001c0024t0006 a0001c0024t0009 a0001c0026t0022 a0001c0032t0002 a0001c0033t0052 a0001c0053t0022 a0001c0067t0014 a0001c0068t0007 a0001c0089t0055 a0001c0093t0007 a0001c0094t0005 a0001c0109t0049 a0002c0028t0062 a0002c0029t0003 a0002c0079t0002 a0004c0027t0011 a0004c0040t0028 a0004c0054t0022 a0005c0065t0013 a0008c0044t0023 a0008c0047t0023 a0008c0069t0102 a0008c0090t0023 a0010c0108t0040 a0022c0092t0007 a0023c0091t0008	a0001c0001t0015g0072 a0001c0005t0024g0191 a0001c0005t0078g0100 others(34): Show a0001c0001t0015g0072 a0001c0005t0024g0191 a0001c0005t0078g0100 a0001c0008t0085g0142 a0001c0010t0006g0053 a0001c0010t0043g0069 a0001c0014t0004g0170 a0001c0014t0006g0113 a0001c0016t0028g0009 a0001c0018t0008g0016 a0001c0018t0017g0152 a0001c0024t0006g0151 a0001c0024t0009g0188 a0001c0026t0022g0115 a0001c0032t0002g0118 a0001c0033t0052g0002 a0001c0053t0022g0039 a0001c0067t0014g0025 a0001c0068t0007g0117 a0001c0089t0055g0175 a0001c0093t0007g0057 a0001c0094t0005g0089 a0001c0109t0049g0011 a0002c0028t0062g0024 a0002c0029t0003g0078 a0002c0079t0002g0200 a0004c0027t0011g0035 a0004c0040t0028g0127 a0004c0054t0022g0084 a0005c0065t0013g0066 a0008c0044t0023g0068 a0008c0047t0023g0019 a0008c0069t0102g0116 a0008c0090t0023g0071 a0010c0108t0040g0183 a0022c0092t0007g0114 a0023c0091t0008g0182	37	204	0.1814	39	c.498 others(58): Show c.4980+2856_4980+2857insTCTCAGAGCTGGGAATAACGCAGTGA GCAGGGACAATGT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44						chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216240	C C	CGTAGGTA others(32): Show CGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0089 a0001c0001t0061g0089	1	430	0.0023	39	c.22 others(50): Show c.2227_*2228insCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGG TAGGG		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				2228	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC31B_chr10_100481647_100524861	100494005	A A	AGAAAGGG others(32): Show AGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0142 a0004c0004t0004g0142	1	298	0.0034	39	c.247 others(58): Show c.2472+1379_2472+1380insCTCCCTCCCTTTCCTCCCTCCCTTTC CTCCCTCCCTTTC		SEC31B	ENSG00000075826.17	transcript	ENST00000370345.8	protein_coding	19/25						chr10	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02683.hp2 HG03491.hp1 others(2): Show HG02300.hp2 HG02683.hp2 HG03491.hp1 NA18949.hp1 NA18997.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0064 a0001c0001t0002g0068 a0003c0005t0002g0036	5	324	0.0154	39	c.11 others(50): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01993.hp1 HG02132.hp2 others(9): Show HG01981.hp1 HG01993.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp2 HG02735.hp1 HG03209.hp2 HG03688.hp2 NA18950.hp2 NA18984.hp2 NA19030.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0178 others(9): Show a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0298 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0028	12	324	0.0370	39	c.11 others(50): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTT CTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(32): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01515.hp1 HG03491.hp2 others(4): Show HG01192.hp1 HG01515.hp1 HG03491.hp2 HG03492.hp1 NA18949.hp2 NA19002.hp2 NA19056.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0003 a0006c0008t0003 a0002c0002t0003 a0006c0008t0003	a0002c0002t0003g0258 a0002c0002t0003g0263 a0002c0002t0003g0291 others(4): Show a0002c0002t0003g0258 a0002c0002t0003g0263 a0002c0002t0003g0291 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0308 a0006c0008t0003g0221	7	324	0.0216	39	c.11 others(50): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848562	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19066.hp1 NA19083.hp2 NA18977.hp1 NA19066.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0266 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0266	3	324	0.0093	39	c.92 others(48): Show c.922_*923insCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					684		chr20	TogoVar
SEMA5A_chr5_9030033_9551075	9353077	A A	AGGAAAGG others(32): Show AGGAAAGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0057 a0001c0001t0033g0057	1	134	0.0075	39	c.125 others(58): Show c.125-15266_125-15265insCTTTCCTTTCCTTTCCTTTCCTTTCC TTCCTTCCTTTCC		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22						chr5	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	394	0.0025	39	c.553 others(56): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATATATATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17						chr12	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0054 a0001c0001t0035g0054	1	306	0.0033	39	c.188 others(58): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATATATAT ATATATATATATA		SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0185 a0001c0008t0003g0185	1	362	0.0028	39	c.43 others(50): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding					1678		chr6	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0102 a0001c0001t0027g0102	1	390	0.0026	39	c.720 others(56): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATA		SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9						chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	390	0.0026	39	c.720 others(56): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA		SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9						chr7	TogoVar
SEPTIN1_chr16_30373135_30387561	30382300	C C	CCCTTCTT others(32): Show CCCTTCTTGGACGGACTGCCGGTGAGCCCTGGGTGCCCAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0053 a0006c0007t0001g0053	1	310	0.0032	39	c.83_ others(44): Show c.83_84insTTGGGCACCCAGGGCTCACCGGCAGTCCGTCCAAGAAGG	p.Gly others(50): Show p.Gly28_Phe29insTrpAlaProArgAlaHisArgGlnSerValGlnG luGly	SEPTIN1	ENSG00000180096.13	transcript	ENST00000321367.8	protein_coding	2/11	102/1437	83/1119	28/372			chr16	TogoVar
SEPTIN9_chr17_77276499_77505593	77484739	G G	GTGATGTG others(32): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(5): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01261.hp1 HG01261.hp2 HG02922.hp1 HG03195.hp2 HG03486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 others(3): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 a0002c0002t0004 a0002c0002t0015 a0003c0003t0055	a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0034 others(5): Show a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0034 a0001c0001t0017g0078 a0001c0001t0029g0117 a0002c0002t0004g0024 a0002c0002t0015g0061 a0003c0003t0055g0095	8	150	0.0533	39	c.913 others(56): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484739	G G	GTGATGTG others(32): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(5): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01261.hp1 HG01261.hp2 HG02922.hp1 HG03195.hp2 HG03486.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 others(4): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 a0001c0001t0033 a0002c0002t0003 a0002c0002t0009 a0003c0003t0043	a0001c0001t0007g0005 a0001c0001t0010g0078 a0001c0001t0010g0079 others(5): Show a0001c0001t0007g0005 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0024g0071 a0001c0001t0033g0125 a0002c0002t0003g0141 a0002c0002t0009g0032 a0003c0003t0043g0046	8	158	0.0506	39	c.859 others(56): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	366	0.0027	39	c.37 others(50): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding					2023		chr6	TogoVar
SERPINB12_chr18_63537369_63574329	63569158	G G	GGATTTCT others(32): Show GGATTTCTCAGATTTTGAAGCATGAGAGGGAGAATGTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0071 a0002c0002t0040g0071	1	402	0.0025	39	c.21 others(50): Show c.2148_*2186dupGATTTCTCAGATTTTGAAGCATGAGAGGGAGAAT GTATC		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	8/8				2187	INFO_REALIGN_3_PRIME	chr18	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCCATAT others(32): Show CCCCATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 NA18522.hp2 HG02622.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0050 a0001c0003t0049 a0001c0003t0050	a0001c0003t0049g0069 a0001c0003t0050g0075 a0001c0003t0049g0069 a0001c0003t0050g0075	2	392	0.0051	39	c.57 others(50): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATGGG		SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10				5779		chr11	TogoVar
SESTD1_chr2_179096678_179269832	179149059	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0121 a0001c0001t0017g0121	1	274	0.0037	39	c.581 others(54): Show c.581+237_581+238insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	7/17						chr2	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	290	0.0035	39	c.676 others(56): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12						chr14	TogoVar
SETD4_chr21_36029541_36065526	36032688	C C	CTGTGTGT others(32): Show CTGTGTGTGGGGGTCGCTGTTCTATTGTGGGGGCCGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18990.hp1 NA19055.hp2 NA18963.hp1 NA18990.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0206 a0001c0001t0004g0021 a0001c0001t0004g0206	3	398	0.0075	39	c.33 others(50): Show c.3304_*3305insTCAGCGGCCCCCACAATAGAACAGCGACCCCCAC ACACA		SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding					1852		chr21	TogoVar
SETD4_chr21_36029541_36065526	36032747	T T	TCTATTGT others(32): Show TCTATTGTGGGGGCCGCTGATGTGTGTGGGGGTCGCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(115): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0007 a0001c0001 a0001c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0005t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0002g0186 a0001c0001t0004g0021 a0001c0001t0004g0199 a0001c0001t0009g0046 a0001c0001t0012g0213 a0001c0001t0013g0193 a0001c0001t0016g0217 a0001c0005t0001g0214 a0003c0007t0001g0215	118	398	0.2965	39	c.32 others(50): Show c.3245_*3246insGACAGCGACCCCCACACACATCAGCGGCCCCCAC AATAG		SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding					1793		chr21	TogoVar
SEZ6L_chr22_26164462_26388596	26348567	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0014 a0002c0018t0014	a0002c0018t0014g0125 a0002c0018t0014g0125	1	240	0.0042	39	c.240 others(56): Show c.2407+655_2407+656insGGAAGGAAGGGAGGAAAGAAAGAAAGAA AGAAAGAAAGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	344	0.0029	39	c.495 others(54): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24						chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	342	0.0029	39	c.571 others(54): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25					INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31593986	A A	AGGCAGAG others(32): Show AGGCAGAGGCAGAGGCAGGGGCAGGGGCAGGGGCAGGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp1 HG02818.hp2 others(3): Show HG01891.hp1 HG01993.hp1 HG02818.hp2 HG03139.hp2 HG03710.hp2 NA19030.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0038 a0006c0008 a0006c0013 a0006c0038	a0006c0008t0001 a0006c0013t0001 a0006c0038t0001 a0006c0008t0001 a0006c0013t0001 a0006c0038t0001	a0006c0008t0001g0316 a0006c0008t0001g0318 a0006c0008t0001g0319 others(3): Show a0006c0008t0001g0316 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0038t0001g0033	6	322	0.0186	39	c.154 others(58): Show c.1544+4409_1544+4410insGGCAGAGGCAGAGGCAGGGGCAGGGG CAGGGGCAGGGGC		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32						chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	322	0.0031	39	c.249 others(56): Show c.2490+554_2490+555insTATATATATATATATATATATATATATA TATATATATAT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32						chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	328	0.0031	39	c.124 others(56): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945137	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	328	0.0031	39	c.124 others(56): Show c.124-1545_124-1544insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7367273	C C	CTCCTGAT others(32): Show CTCCTGATGTCCTTTCAGCCTTCCTTTCTTACCCTCCAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	144	0.0069	39	c.436 others(54): Show c.436+337_436+375dupATTGGAGGGTAAGAAAGGAAGGCTGAAAGG ACATCAGGA		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar

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