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
SLC7A1_chr13_29504414_29600688	29558514	GGGGAGAG others(32): Show GGGGAGAGAATGTGAATGAGGGGGAGAGAATGTGAGTGAT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18950.hp1 NA18999.hp1 others(1): Show HG04199.hp2 NA18950.hp1 NA18999.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0150 a0001c0002t0002g0174 a0001c0002t0002g0179 others(1): Show a0001c0002t0002g0150 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0003t0005g0125	4	330	0.0121	-39	c.-11 others(58): Show c.-114-4693_-114-4655delATCACTCACATTCTCTCCCCCTCATT CACATTCTCTCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558532	AGGGGGAG others(32): Show AGGGGGAGAGAATGTGAGTGATGGGGAGAGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02717.hp2 others(4): Show HG02280.hp2 HG02559.hp1 HG02717.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0045 a0001c0005t0006 a0001c0005t0026 a0001c0001t0045 a0001c0005t0006 a0001c0005t0026	a0001c0001t0045g0082 a0001c0005t0006g0106 a0001c0005t0006g0107 others(4): Show a0001c0001t0045g0082 a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 a0001c0005t0006g0109 a0001c0005t0006g0110 a0001c0005t0026g0038	7	330	0.0212	-39	c.-11 others(58): Show c.-114-4711_-114-4673delCACTCACATTCTCTCCCCATCACTCA CATTCTCTCCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558951	AGGCAGAG others(32): Show AGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	330	0.0030	-39	c.-11 others(58): Show c.-114-5130_-114-5092delCCTCACATTCACTCCCCCCTCATTCA GATTCACTCTGCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559292	GGGGGAGA others(32): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0180 a0002c0007t0016g0180	1	330	0.0030	-39	c.-11 others(58): Show c.-114-5471_-114-5433delTCACTCACATTCTCTCCCCCTCACTC ACATTCTCTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559332	GGGGGAGT others(32): Show GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19005.hp1 HG01884.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0121 a0001c0002t0002g0183 a0001c0001t0001g0121 a0001c0002t0002g0183	2	330	0.0061	-39	c.-11 others(58): Show c.-114-5511_-114-5473delTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559372	GGGGGAGT others(32): Show GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02080.hp2 HG02622.hp1 others(3): Show HG00735.hp1 HG02080.hp2 HG02622.hp1 HG03516.hp1 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0021t0002	a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0008g0054 others(2): Show a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0008g0054 a0001c0002t0002g0010 a0001c0021t0002g0164	6	330	0.0182	-39	c.-11 others(58): Show c.-114-5551_-114-5513delTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC9A3_chr5_465456_529449	505386	GGGGTGGG others(32): Show GGGGTGGGGAGTGACCGCGGGGTGAAGAGTGACTGTAGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 NA18522.hp1 others(1): Show HG02257.hp2 HG02622.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	4	218	0.0184	-39	c.212 others(58): Show c.212-13354_212-13316delTCCTACAGTCACTCTTCACCCCGCGG TCACTCCCCACCC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35539333	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19080.hp1 NA19084.hp2 NA19058.hp1 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0017g0154 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0017g0154	3	360	0.0083	-39	c.-24 others(50): Show c.-2405_-2367delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding					1656		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539333	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19080.hp2 NA19084.hp2 NA19058.hp1 NA19080.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0003 a0003c0003t0004g0003	3	428	0.0070	-39	c.88 others(50): Show c.8867_*8905delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					4651		chr17	TogoVar
SLK_chr10_103962140_104034233	104031245	TTTTAATC others(32): Show TTTTAATCTTTCTTTGGTCAGACGAATCACATTAAACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0143 a0002c0002t0005g0143	1	376	0.0027	-39	c.55 others(50): Show c.5526_*5564delTTTAATCTTTCTTTGGTCAGACGAATCACATTAA ACATG		SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding					2013		chr10	TogoVar
SLX4IP_chr20_10430305_10633030	10617875	AAGCTATC others(32): Show AAGCTATCCTCCTACCTTGGCCTCCCAAAGTGCTGGGATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	266	0.0038	-39	c.406 others(56): Show c.406-3437_406-3399delGCTATCCTCCTACCTTGGCCTCCCAAAG TGCTGGGATTA		SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
SMARCD3_chr7_151233780_151253694	151252543	TTGGTTTC others(32): Show TTGGTTTCGGTGTTCTGGCCATCTCTAAACCAGGCCCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	382	0.0026	-39	c.-40 others(50): Show c.-4020_-3982delGTGGGGCCTGGTTTAGAGATGGCCAGAACACCGA AACCA		SMARCD3	ENSG00000082014.17	transcript	ENST00000262188.13	protein_coding					3850		chr7	TogoVar
SMG1_chr16_18799860_18931408	18827558	CTTTGGTA others(32): Show CTTTGGTATAAATATACCAAAATATATATTTTTAGATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19085.hp2 HG03195.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0007 a0001c0001t0001 a0001c0004t0007	a0001c0001t0001g0132 a0001c0004t0007g0006 a0001c0001t0001g0132 a0001c0004t0007g0006	2	300	0.0067	-39	c.974 others(56): Show c.9741+434_9741+472delTATATCTAAAAATATATATTTTGGTATA TTTATACCAAA		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62						chr16	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(32): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02004.hp2 NA18957.hp1 others(1): Show HG00741.hp2 HG02004.hp2 NA18957.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	397	0.0101	-39	c.-31 others(50): Show c.-3156_-3118delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2993		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168505185	GTCTCTCA others(32): Show GTCTCTCAGATGCTGGATGAATGACTGAATGAAATGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	180	0.0056	-39	c.85- others(54): Show c.85-4717_85-4679delTGGATGAATGACTGAATGAAATGTCCATCT CTCAGATGC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168505521	CTGAATGA others(32): Show CTGAATGAAATGTCCGTCTCTCAGATGCTGGATGAATGAG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	180	0.0056	-39	c.85- others(54): Show c.85-4387_85-4349delAAATGTCCGTCTCTCAGATGCTGGATGAAT GAGTGAATG		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654676	TGCACCTG others(32): Show TGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01069.hp2 others(25): Show HG00423.hp2 HG00673.hp1 HG01069.hp2 HG01261.hp1 HG01516.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02738.hp2 HG03654.hp1 HG03834.hp1 HG04184.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18960.hp1 NA18971.hp2 NA18983.hp2 NA19000.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 others(25): Show a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0013g0062 a0001c0003t0001g0155	28	180	0.1556	-39	c.128 others(58): Show c.1285+1449_1285+1487delGCACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12						chr6	TogoVar
SMOX_chr20_4143828_4192727	4174357	TGGGGTCC others(32): Show TGGGGTCCATGCAAGTATCTTCGGGTCCAGGCAAGTATCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03927.hp1 HG03704.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0223 a0001c0004t0001g0224 a0001c0002t0001g0223 a0001c0004t0001g0224	2	428	0.0047	-39	c.-26 others(54): Show c.-26-652_-26-614delCGGGTCCAGGCAAGTATCCGGGGTCCATGC AAGTATCTT		SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SMO_chr7_129183633_129218545	129216368	TCTCTGCC others(32): Show TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGGGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0037 a0002c0006t0003g0037	2	410	0.0049	-39	c.39 others(50): Show c.3918_*3956delCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG GGCAC		SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding					2824		chr7	TogoVar
SMUG1_chr12_54175366_54193985	54185486	AAATAAAT others(32): Show AAATAAATAAATAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	438	0.0023	-39	c.-19 others(56): Show c.-19-1566_-19-1528delATTTATTTATTTATTTATTTATTTATTT ATTTATTTATT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3						chr12	TogoVar
SMYD1_chr2_88062825_88118384	88065223	CCCCTCCC others(32): Show CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02273.hp1 HG02738.hp2 others(1): Show HG00639.hp1 HG02273.hp1 HG02738.hp2 HG03927.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0004 a0001c0025 others(1): Show a0001c0003 a0001c0004 a0001c0025 a0006c0024	a0001c0003t0003 a0001c0004t0001 a0001c0025t0003 others(1): Show a0001c0003t0003 a0001c0004t0001 a0001c0025t0003 a0006c0024t0003	a0001c0003t0003g0007 a0001c0004t0001g0173 a0001c0025t0003g0177 others(1): Show a0001c0003t0003g0007 a0001c0004t0001g0173 a0001c0025t0003g0177 a0006c0024t0003g0068	4	338	0.0118	-39	c.-26 others(50): Show c.-2641_-2603delCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCCT		SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding					2601		chr2	TogoVar
SMYD1_chr2_88062825_88118384	88065233	CCCCTCCC others(32): Show CCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG04184.hp1 HG02683.hp2 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0016 a0001c0008t0002 a0001c0004t0016 a0001c0008t0002	a0001c0004t0016g0067 a0001c0008t0002g0075 a0001c0004t0016g0067 a0001c0008t0002g0075	2	338	0.0059	-39	c.-26 others(50): Show c.-2631_-2593delCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCT CCCCT		SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding					2591		chr2	TogoVar
SNAI3_chr16_88672688_88691507	88687559	GTGTGAAA others(32): Show GTGTGAAAAGCTGGGCTAGTATCAGCCCCACTTTGCCAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	400	0.0025	-39	c.-11 others(50): Show c.-1192_-1154delATTGGCAAAGTGGGGCTGATACTAGCCCAGCTTT TCACA		SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding					1053		chr16	TogoVar
SNCA_chr4_89719099_89842161	89784842	GTGGGAAG others(32): Show GTGGGAAGAGAAATGTAAAAGTCTTGCAACACAAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0285 a0001c0001t0011g0285	1	338	0.0030	-39	c.306 others(58): Show c.306+37365_306+37403delTCCCTTTTGTGTTGCAAGACTTTTAC ATTTCTCTTCCCA		SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5						chr4	TogoVar
SNF8_chr17_48924316_48949842	48945951	TGTAATCC others(32): Show TGTAATCCTAGCTGCTCGGGAGGCTGTAGCAGAGAATTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-39	c.-12 others(50): Show c.-1256_-1218delGGAATTCTCTGCTACAGCCTCCCGAGCAGCTAGG ATTAC		SNF8	ENSG00000159210.10	transcript	ENST00000502492.6	protein_coding					1110		chr17	TogoVar
SNRPC_chr6_34752505_34778857	34766694	TGTGAGAG others(32): Show TGTGAGAGAGGCCTTTTTGATTGAAAAAGTCCATATTGGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	368	0.0027	-39	c.161 others(56): Show c.161-1210_161-1172delAGAGAGGCCTTTTTGATTGAAAAAGTCC ATATTGGGGTG		SNRPC	ENSG00000124562.10	transcript	ENST00000244520.10	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTB2_chr16_69182164_69314052	69282673	CACCTAAA others(32): Show CACCTAAAAGAGAACTGACATCTTAATATGGAGTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(68): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18964.hp2 NA18968.hp2 NA18997.hp1 NA18998.hp1 NA19030.hp1 NA19043.hp1 NA19087.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 others(20): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0039 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038	a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 others(68): Show a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0013g0055 a0001c0001t0013g0056 a0001c0001t0013g0062 a0001c0001t0016g0048 a0001c0001t0016g0050 a0001c0001t0016g0051 a0001c0001t0039g0053 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0008g0018 a0001c0002t0008g0020 a0001c0002t0008g0021 a0001c0002t0009g0003 a0001c0002t0009g0005 a0001c0002t0009g0006 a0001c0002t0009g0007 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0002t0012g0202 a0001c0002t0012g0203 a0001c0002t0012g0205 a0001c0002t0012g0206 a0001c0002t0015g0064 a0001c0002t0015g0065 a0001c0002t0015g0066 a0001c0002t0017g0043 a0001c0002t0017g0044 a0001c0002t0018g0034 a0001c0002t0018g0036 a0001c0002t0019g0041 a0001c0002t0019g0042 a0001c0002t0020g0011 a0001c0002t0020g0013 a0001c0002t0023g0067 a0001c0002t0023g0068 a0001c0002t0024g0027 a0001c0002t0026g0004 a0001c0002t0027g0047 a0001c0002t0028g0010 a0001c0002t0029g0012 a0001c0002t0030g0035 a0001c0002t0036g0019 a0001c0002t0037g0204 a0001c0002t0038g0069	71	218	0.3257	-39	c.114 others(58): Show c.1149-1371_1149-1333delTAAAAGAGAACTGACATCTTAATATG GAGTCTTTCTACC		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292396	ATATATAT others(32): Show ATATATATATATTATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	218	0.0046	-39	c.134 others(58): Show c.1346-7182_1346-7144delTATATATATATTATATATATATATAT ATTATATATATAT		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG2_chr2_945849_1372613	1362884	AGTCACCA others(32): Show AGTCACCAACGCTGAGCATTTCAGTAGAACTTCCACGAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0050 a0006c0009t0001g0050	1	190	0.0053	-39	c.148 others(58): Show c.1489-4452_1489-4414delAACGCTGAGCATTTCAGTAGAACTTC CACGAAGGTCACC		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTN_chr3_63647675_63670212	63666474	CACATGCC others(32): Show CACATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	-39	c.23 others(50): Show c.2380_*2418delACATGCCTGTAATCCTAGCTACTCAGGAGGCTGA GGAAG		SNTN	ENSG00000188817.8	transcript	ENST00000343837.8	protein_coding					1263		chr3	TogoVar
SNX8_chr7_2246770_2319441	2267735	CCGTCTGG others(32): Show CCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20805.hp1 HG02965.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0166 a0001c0001t0022g0165 a0001c0001t0022g0166	2	370	0.0054	-39	c.621 others(56): Show c.621+1785_621+1823delATGGGCGGCCAGGCAGAGACACTCCTCA CTTCCCAGACG		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10						chr7	TogoVar
SNX8_chr7_2246770_2319441	2302547	CTCTGCCT others(32): Show CTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02280.hp2 others(2): Show HG01109.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0013 a0001c0001 a0002c0004 a0004c0013	a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 others(1): Show a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 a0004c0013t0003	a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 others(2): Show a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 a0002c0004t0008g0361 a0004c0013t0003g0005	5	370	0.0135	-39	c.94+ others(56): Show c.94+11742_94+11780delAGGGCTCCTCACATCCCAGACGATGGGC GGCCAGGCAGA		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10						chr7	TogoVar
SORCS2_chr4_7187538_7747827	7482602	CAGACCTG others(32): Show CAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp1 HG03540.hp1 others(4): Show HG01361.hp1 HG02258.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0003c0013 a0003c0035 a0009c0025	a0001c0001t0004 a0001c0003t0015 a0001c0003t0052 others(4): Show a0001c0001t0004 a0001c0003t0015 a0001c0003t0052 a0001c0010t0027 a0003c0013t0021 a0003c0035t0007 a0009c0025t0031	a0001c0001t0004g0138 a0001c0003t0015g0034 a0001c0003t0052g0147 others(4): Show a0001c0001t0004g0138 a0001c0003t0015g0034 a0001c0003t0052g0147 a0001c0010t0027g0105 a0003c0013t0021g0100 a0003c0035t0007g0075 a0009c0025t0031g0025	7	168	0.0417	-39	c.549 others(58): Show c.549-48913_549-48875delACTGCGGACACCCCTGACGCTGTTTA GACCTGTATCCCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482674	TGCAGTTC others(32): Show TGCAGTTCAGACCTGTATCCCCACTGCGGACACCCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp2 HG02559.hp2 NA19030.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0016c0019 a0001c0002 a0016c0019	a0001c0002t0004 a0016c0019t0018 a0001c0002t0004 a0016c0019t0018	a0001c0002t0004g0018 a0016c0019t0018g0027 a0001c0002t0004g0018 a0016c0019t0018g0027	2	168	0.0119	-39	c.549 others(58): Show c.549-48853_549-48815delAGTTCAGACCTGTATCCCCACTGCGG ACACCCCTGACGC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORT1_chr1_109304575_109402918	109360912	TGTGGTCC others(32): Show TGTGGTCCTTGAAATCTGAAAGCCTTCCCTCATTGGGTTC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	240	0.0042	-39	c.441 others(56): Show c.441-5482_441-5444delGAACCCAATGAGGGAAGGCTTTCAGATT TCAAGGACCAC		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	3/19						chr1	TogoVar
SOX11_chr2_5687384_5706385	5706346	GCTGGGGT others(32): Show GCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAAGCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(65): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 others(28): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0032 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0059 a0001c0001t0061 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0114 a0001c0001t0116 a0001c0001t0127 a0001c0001t0132 a0001c0001t0140 a0001c0001t0141 a0001c0001t0144 a0001c0001t0147 a0001c0001t0168 a0001c0001t0189 a0001c0001t0201	a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 others(28): Show a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0023g0000 a0001c0001t0032g0000 a0001c0001t0038g0000 a0001c0001t0041g0000 a0001c0001t0044g0000 a0001c0001t0048g0000 a0001c0001t0050g0000 a0001c0001t0051g0000 a0001c0001t0059g0000 a0001c0001t0061g0000 a0001c0001t0072g0000 a0001c0001t0073g0000 a0001c0001t0077g0000 a0001c0001t0114g0000 a0001c0001t0116g0000 a0001c0001t0127g0000 a0001c0001t0132g0000 a0001c0001t0140g0000 a0001c0001t0141g0000 a0001c0001t0144g0000 a0001c0001t0147g0000 a0001c0001t0168g0000 a0001c0001t0189g0000 a0001c0001t0201g0000	68	434	0.1567	-39	c.12 others(52): Show c.12300_*12338delCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGA GAAGCTG		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4962		chr2	TogoVar
SOX12_chr20_320552_335224	333240	CATAAACT others(32): Show CATAAACTATCCTGTTACTTTGCTTTATTTTTCTGAATAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	400	0.0025	-39	c.63 others(50): Show c.6369_*6407delATAAACTATCCTGTTACTTTGCTTTATTTTTCTG AATAG		SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding					3017		chr20	TogoVar
SOX6_chr11_15961449_16361546	16132310	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	218	0.0046	-39	c.778 others(58): Show c.778-20426_778-20388delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132405	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03195.hp1 HG00639.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0005 a0001c0001t0046	a0001c0001t0005g0042 a0001c0001t0046g0217 a0001c0001t0005g0042 a0001c0001t0046g0217	2	218	0.0092	-39	c.778 others(58): Show c.778-20521_778-20483delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18975.hp2 NA19055.hp2 others(1): Show NA18974.hp1 NA18975.hp2 NA19055.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0028 a0001c0001t0003g0142 a0001c0003t0003g0187 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0142 a0001c0003t0003g0187 a0001c0003t0003g0289	4	290	0.0138	-39	c.205 others(56): Show c.2053-631_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906544	GCCTCCAC others(32): Show GCCTCCACCACCACCACCACCCCCGCCACACCCCTCACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-39	c.-33 others(50): Show c.-3327_-3289delCCTCCACCACCACCACCACCCCCGCCACACCCCT CACCA		SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding					2945		chr9	TogoVar
SPAG16_chr2_213279464_214415501	214409135	AGAATTAT others(32): Show AGAATTATCCATATCAAGCACTAAATATAAGGATCATACG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	86	0.0116	-39	c.172 others(56): Show c.1721-976_1721-938delAGGATCATACGGAATTATCCATATCAAG CACTAAATATA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPANXN1_chrX_145242503_145261208	145256036	CTTACCTG others(32): Show CTTACCTGAAGGATCTTCACAGGAGGATAAAGACGTAGAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG03041.hp2 HG00639.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0085 a0001c0001t0008g0084 a0001c0001t0008g0085	2	334	0.0060	-39	c.25 others(48): Show c.250_*288delAAAGACGTAGAATTACCTGAAGGATCTTCACAGGAG GAT		SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding	2/2				250	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPANXN2_chrX_143706955_143725752	143712112	GGTCCAGG others(32): Show GGTCCAGGTCTTCGTCCTCCTGTGAAGATCCTTCAGATGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0058 a0004c0009t0001g0058	1	336	0.0030	-39	c.427 others(46): Show c.427_465delTCATCTGAAGGATCTTCACAGGAGGACGAAGACCTGGA C	p.Ser others(13): Show p.Ser143_Asp155del	SPANXN2	ENSG00000268988.2	transcript	ENST00000598475.2	protein_coding	2/2	549/707	427/543	143/180			chrX	TogoVar
SPATA16_chr3_172884357_173146235	173126032	CTGTAGCA others(32): Show CTGTAGCATCCTGATTCTTTTTTCTTATTTTTGTTGTTTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02148.hp1 HG03704.hp2 HG01243.hp1 HG02148.hp1 HG03704.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0010c0010t0001 a0001c0001t0001 a0010c0010t0001	a0001c0001t0001g0185 a0001c0001t0001g0188 a0010c0010t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0188 a0010c0010t0001g0181	3	200	0.0150	-39	c.-18 others(56): Show c.-18-8322_-18-8284delCAAACAACAAAAATAAGAAAAAAGAATC AGGATGCTACA		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	1/10						chr3	TogoVar
SPATC1L_chr21_46156160_46189459	46169880	CTGTGGAT others(32): Show CTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03195.hp1 HG02280.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0022 a0001c0001t0043	a0001c0001t0022g0201 a0001c0001t0022g0202 a0001c0001t0043g0203 a0001c0001t0022g0201 a0001c0001t0022g0202 a0001c0001t0043g0203	3	251	0.0120	-39	c.194 others(56): Show c.194-1261_194-1223delAGAGGATGCTCACAGAGCAGGGGCTCCT CCCCATCCACA		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4						chr21	TogoVar
SPDYA_chr2_28805834_28855610	28819838	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	338	0.0030	-39	c.294 others(54): Show c.294+734_294+772delAAAAAAAAAAATATATATATATATATATAT ATATATATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE8_chr7_73014719_73034766	73031663	TGGCTGGG others(32): Show TGGCTGGGGTGCAGTGGTACAATCAGCTCTCTGTTGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02055.hp2 HG02258.hp2 others(9): Show HG00280.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp1 HG02886.hp2 HG02922.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 NA18960.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0014	a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0005g0089 others(9): Show a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0007g0033 a0001c0001t0015g0088 a0002c0002t0003g0018 a0002c0002t0003g0083 a0002c0002t0006g0085 a0002c0002t0006g0087 a0002c0002t0007g0081 a0002c0002t0014g0084	12	138	0.0870	-39	c.-25 others(50): Show c.-2511_-2473delGAGGCAACAGAGAGCTGATTGTACCACTGCACCC CAGCC		SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding					1898		chr7	TogoVar
SPDYE9_chr7_73070972_73091038	73087935	TGGCTGGG others(32): Show TGGCTGGGGTGCAGTGGTACAATCAGCTCTCTGTTGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02451.hp2 others(5): Show HG01891.hp2 HG02280.hp2 HG02451.hp2 HG02895.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 others(4): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0002c0002t0001 a0002c0002t0006 a0005c0007t0012	a0001c0001t0006g0052 a0001c0001t0008g0072 a0001c0001t0013g0056 others(5): Show a0001c0001t0006g0052 a0001c0001t0008g0072 a0001c0001t0013g0056 a0001c0001t0017g0071 a0002c0002t0001g0059 a0002c0002t0006g0068 a0002c0002t0006g0069 a0005c0007t0012g0067	8	164	0.0488	-39	c.-25 others(50): Show c.-2511_-2473delGAGGCAACAGAGAGCTGATTGTACCACTGCACCC CAGCC		SPDYE9	ENSG00000262461.7	transcript	ENST00000575125.6	protein_coding					1898		chr7	TogoVar
SPG7_chr16_89503403_89562766	89517248	AGGAATGG others(32): Show AGGAATGGCATGGCAGCCTCCGTTGTCATGGTTCCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04204.hp1 NA18946.hp2 others(8): Show HG00597.hp2 HG04204.hp1 NA18946.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA19000.hp2 NA19055.hp2 NA19067.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0156 others(8): Show a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188	11	358	0.0307	-39	c.376 others(56): Show c.376+4250_376+4288delGGGAATGGCATGGCAGCCTCCGTTGTCA TGGTTCCTGGA		SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr16	TogoVar

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