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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	222	0.0045	34	c.116 others(53): Show c.1165+1199_1165+1200insTATATATATATATATATATATATATA TATATACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(27): Show CACACACACACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0101 a0001c0002t0004g0102	2	222	0.0090	34	c.116 others(53): Show c.1165+1223_1165+1224insCACACACACACACACACACATACACA CACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(27): Show CACACACACACACACACATATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0219 a0001c0008t0008g0219	1	222	0.0045	34	c.116 others(53): Show c.1165+1223_1165+1224insCACACACACACACACATATACACACA CACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03453.hp1 HG03490.hp1 HG02129.hp2 HG03453.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0160	3	328	0.0092	34	c.296 others(51): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841465	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	328	0.0031	34	c.296 others(51): Show c.2968+674_2968+675insGTATATATATATATATATATATATATAT ATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841467	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	328	0.0031	34	c.296 others(51): Show c.2968+672_2968+673insGTATATATATATATATATATATATATAT ATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20905.hp1 HG04115.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0122 a0002c0002t0004g0124 a0002c0002t0004g0122 a0002c0002t0004g0124	2	378	0.0053	34	c.186 others(51): Show c.1865-747_1865-746insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18988.hp1 HG03471.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0119 a0001c0001t0001g0133	2	324	0.0062	34	c.115 others(51): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(27): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	324	0.0031	34	c.115 others(51): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SELENON_chr1_25795193_25823221	25819427	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0045 a0001c0004t0006g0045	1	392	0.0026	34	c.37 others(45): Show c.3709_*3710insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1207	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGAG others(27): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0221 a0001c0004t0015g0221	1	392	0.0026	34	c.37 others(45): Show c.3711_*3712insGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0142 a0001c0004t0001g0142	1	392	0.0026	34	c.37 others(45): Show c.3711_*3712insGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CACACACA others(27): Show CACACACACACACACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0158 a0002c0005t0016g0158	1	266	0.0038	34	c.589 others(51): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTGTGTGTGT GTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CACACACA others(27): Show CACACACACACACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0159 a0002c0005t0016g0159	1	266	0.0038	34	c.589 others(51): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTCTGTGTGT GTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389958	A A	AGTGTATA others(27): Show AGTGTATACGTATACACATATATACGCGTATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	226	0.0044	34	c.166 others(53): Show c.1667+2596_1667+2597insATATATACGCGTATATATGTGTATAC GTATACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639110	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp1 HG02895.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0035 a0003c0007t0036 a0001c0001t0035 a0003c0007t0036	a0001c0001t0035g0001 a0003c0007t0036g0007 a0001c0001t0035g0001 a0003c0007t0036g0007	2	226	0.0089	34	c.115 others(51): Show c.115+9317_115+9318insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(27): Show CTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0196 a0001c0004t0023g0196	1	370	0.0027	34	c.-30 others(53): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAGAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9353082	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 NA18522.hp2 others(1): Show HG02818.hp2 HG03540.hp2 NA18522.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0030 a0001c0001t0054 others(1): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0054 a0001c0003t0012	a0001c0001t0001g0042 a0001c0001t0030g0032 a0001c0001t0054g0094 others(1): Show a0001c0001t0001g0042 a0001c0001t0030g0032 a0001c0001t0054g0094 a0001c0003t0012g0068	4	134	0.0299	34	c.125 others(53): Show c.125-15271_125-15270insCTTTCCTTTCCTTTCCTTTCCTTTCC TTCCTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMG2_chr20_45216373_45229458	45225548	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	362	0.0028	34	c.13 others(45): Show c.1302_*1303insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1091		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19060.hp1 NA19077.hp2 HG00738.hp2 NA19060.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001	a0001c0001t0003g0194 a0001c0001t0004g0334 a0001c0010t0001g0083 a0001c0001t0003g0194 a0001c0001t0004g0334 a0001c0010t0001g0083	3	394	0.0076	34	c.553 others(51): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	394	0.0025	34	c.553 others(51): Show c.553-3542_553-3541insGTGTGTGTGTATATATATATATATATAT ATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	394	0.0025	34	c.553 others(51): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01433.hp2 others(4): Show HG00140.hp1 HG01243.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02280.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0003g0207 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0003g0207 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0018g0053	7	394	0.0178	34	c.553 others(51): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT ATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01261.hp1 others(18): Show HG01257.hp2 HG01258.hp1 HG01261.hp1 HG02083.hp1 HG02165.hp2 HG02602.hp1 HG02809.hp1 HG03669.hp1 HG04228.hp2 NA18522.hp2 NA18953.hp1 NA18961.hp1 NA18964.hp2 NA18977.hp2 NA18979.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19012.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0280 a0001c0001t0001g0352 a0001c0001t0001g0383 a0001c0001t0003g0205 a0001c0001t0004g0346 a0001c0001t0005g0270	21	394	0.0533	34	c.553 others(51): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185589662	T T	TTTTATTT others(27): Show TTTTATTTTTAGTTTTATTTTCTTTTTAAAACAAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0096 a0002c0002t0096	a0002c0002t0096g0289 a0002c0002t0096g0289	1	360	0.0028	34	c.102 others(49): Show c.102-433_102-432insTCTTTTTAAAACAAGTTTATTTTTAGTTTT ATTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP7_chr3_101319205_101518212	101463364	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0069 a0002c0002t0011g0069	1	370	0.0027	34	c.187 others(51): Show c.187-4346_187-4313dupGTATATATATATATATATATATATATAT ATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN6_chrX_119611945_119698168	119621446	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	252	0.0040	34	c.42 others(51): Show c.42-1429_*42-1396dupACACACACACACACACACACACACACAC ACACAC	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	10/10			chrX	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0074 a0001c0001t0031g0074	1	368	0.0027	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0018 a0001c0001t0016g0018	1	368	0.0027	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18987.hp1 NA18612.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0169 a0001c0001t0002g0178	2	368	0.0054	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATATTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG02071.hp2 others(4): Show HG00280.hp1 HG00423.hp1 HG02071.hp2 HG03491.hp1 HG03704.hp2 NA18989.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0037 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0037 a0001c0001t0066	a0001c0001t0002g0002 a0001c0001t0002g0162 a0001c0001t0023g0186 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0162 a0001c0001t0023g0186 a0001c0001t0037g0023 a0001c0001t0066g0200	7	368	0.0190	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00741.hp2 others(29): Show HG00323.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02135.hp2 HG02698.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp2 NA18944.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18992.hp1 NA19007.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0027 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0069 a0001c0001t0094 a0003c0006t0004	a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0161 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0161 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0223 a0001c0001t0004g0005 a0001c0001t0004g0049 a0001c0001t0004g0164 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0005g0009 a0001c0001t0005g0054 a0001c0001t0023g0168 a0001c0001t0027g0181 a0001c0001t0036g0038 a0001c0001t0037g0023 a0001c0001t0041g0040 a0001c0001t0069g0051 a0001c0001t0094g0081 a0003c0006t0004g0246	32	368	0.0870	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01106.hp2 others(11): Show HG00639.hp2 HG01071.hp1 HG01106.hp2 HG01433.hp1 HG02155.hp2 HG02165.hp1 HG02683.hp2 HG03239.hp2 HG03942.hp2 HG04199.hp1 NA18950.hp1 NA19057.hp1 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0062 a0001c0001t0068 a0001c0001t0070 a0001c0001t0098	a0001c0001t0002g0036 a0001c0001t0002g0199 a0001c0001t0004g0008 others(10): Show a0001c0001t0002g0036 a0001c0001t0002g0199 a0001c0001t0004g0008 a0001c0001t0004g0035 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0195 a0001c0001t0007g0016 a0001c0001t0009g0015 a0001c0001t0062g0171 a0001c0001t0068g0185 a0001c0001t0070g0187 a0001c0001t0098g0202	14	368	0.0380	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATATATATATTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01934.hp1 others(2): Show HG00639.hp1 HG01243.hp1 HG01934.hp1 HG02300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 a0002c0005t0004	a0001c0001t0002g0160 a0001c0001t0004g0008 a0001c0001t0028g0172 others(1): Show a0001c0001t0002g0160 a0001c0001t0004g0008 a0001c0001t0028g0172 a0002c0005t0004g0245	5	368	0.0136	34	c.92 others(45): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18954.hp1 NA18971.hp1 others(3): Show NA18949.hp1 NA18954.hp1 NA18971.hp1 NA19007.hp2 NA19063.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0026 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0109	6	366	0.0164	34	c.37 others(45): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAATATA others(27): Show AAAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	366	0.0027	34	c.760 others(47): Show c.760-23_760-22insATATATATATATATATATATATATATGTATAT TT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31413194	G G	GGCCCGGC others(27): Show GGCCCGGCACCCGGATCCCGAGGTCCGCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0144 a0001c0004t0009g0144	1	376	0.0027	34	c.-72 others(41): Show c.-72_-71insGCCCGGCACCCGGATCCCGAGGTCCGCGCCCCGC	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding		18		chr1	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(27): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	286	0.0035	34	c.196 others(51): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA CACAAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80233430	A A	AATATTAT others(27): Show AATATTATTGTTTTTTTAGTTAAAATAATTTAGTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0284 a0001c0001t0075g0284	1	286	0.0035	34	c.27+ others(51): Show c.27+22465_27+22466insAACTAAATTATTTTAACTAAAAAAACAA TAATAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA4_chr14_94556442_94574906	94557879	T T	TGTGGGGG others(27): Show TGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	428	0.0023	34	c.-36 others(45): Show c.-3633_-3632insGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	SERPINA4	ENSG00000100665.12	transcript	ENST00000557004.6	protein_coding		3562		chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	402	0.0025	34	c.304 others(49): Show c.304-522_304-521insCCTTTCTTTCTTTCTTTCTCTTTCTTTCTT TCTT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01346.hp2 others(12): Show HG00140.hp1 HG00323.hp1 HG01346.hp2 HG01891.hp2 HG04115.hp2 NA18950.hp2 NA18963.hp2 NA18978.hp1 NA18985.hp1 NA19057.hp2 NA19067.hp2 NA19070.hp1 NA19089.hp1 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0001 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0008g0147 a0001c0001t0011g0202	15	402	0.0373	34	c.304 others(49): Show c.304-519_304-518insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	232	0.0043	34	c.-19 others(53): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATATATAT	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(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp2 HG01361.hp1 others(11): Show HG00733.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG02723.hp2 HG03041.hp2 HG03831.hp2 HG04199.hp1 NA18951.hp1 NA18961.hp1 NA18995.hp1 NA19011.hp1 NA19056.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0018 a0001c0001t0002g0010 a0001c0001t0002g0018 others(3): Show a0001c0001t0001g0018 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0062 a0001c0001t0008g0089 a0001c0001t0012g0131	14	438	0.0320	34	c.-17 others(53): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM1_chr13_36669020_36702839	36678688	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	2	438	0.0046	34	c.-17 others(53): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA AATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01433.hp2 others(5): Show HG01070.hp2 HG01071.hp1 HG01433.hp2 HG02602.hp1 HG02723.hp1 HG03139.hp1 NA18951.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0008g0120	8	290	0.0276	34	c.676 others(51): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	240	0.0042	34	c.240 others(51): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348767	A A	AGGGGAGG others(27): Show AGGGGAGGGAAGGAGAGGGAAGGGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00621.hp1 others(44): Show HG00099.hp1 HG00323.hp1 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp2 NA18977.hp1 NA18983.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19081.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0012	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0002c0002 a0002c0005 a0002c0012 a0002c0033 a0003c0004 a0005c0011 a0008c0020 a0009c0032 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0018 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0007 a0001c0007t0001 a0001c0009t0001 a0001c0009t0015 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0020 a0002c0005t0001 a0002c0005t0003 a0002c0005t0006 a0002c0012t0001 a0002c0012t0004 a0002c0033t0003 a0003c0004t0002 a0003c0004t0004 a0003c0004t0012 a0005c0011t0012 a0008c0020t0003 a0009c0032t0001 a0012c0024t0006	a0001c0001t0001g0227 a0001c0001t0002g0057 a0001c0001t0002g0078 others(44): Show a0001c0001t0001g0227 a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0218 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0127 a0001c0001t0003g0169 a0001c0001t0003g0213 a0001c0001t0005g0060 a0001c0001t0005g0135 a0001c0001t0006g0036 a0001c0001t0011g0168 a0001c0001t0018g0043 a0001c0003t0001g0030 a0001c0003t0001g0152 a0001c0003t0001g0180 a0001c0006t0001g0211 a0001c0006t0002g0094 a0001c0006t0007g0015 a0001c0007t0001g0108 a0001c0009t0001g0014 a0001c0009t0015g0112 a0001c0010t0001g0047 a0002c0002t0001g0003 a0002c0002t0002g0073 a0002c0002t0004g0228 a0002c0002t0006g0071 a0002c0002t0020g0123 a0002c0005t0001g0191 a0002c0005t0003g0058 a0002c0005t0003g0138 a0002c0005t0006g0203 a0002c0012t0001g0148 a0002c0012t0001g0151 a0002c0012t0004g0149 a0002c0033t0003g0117 a0003c0004t0002g0118 a0003c0004t0004g0111 a0003c0004t0012g0017 a0005c0011t0012g0104 a0008c0020t0003g0214 a0009c0032t0001g0178 a0012c0024t0006g0063	47	240	0.1958	34	c.240 others(51): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGAAGGGAGGGGGAG GGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A2_chr19_2231824_2253655	2232738	T T	TGGGGAGG others(27): Show TGGGGAGGCTTATGAGGGCACCAGGCCACAGGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	420	0.0024	34	c.-42 others(45): Show c.-4201_-4200insGGGGAGGCTTATGAGGGCACCAGGCCACAGGCAA	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding		4085		chr19	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	344	0.0029	34	c.495 others(49): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar

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