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
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	404	0.0025	36	c.-58 others(45): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding					265		chr5	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	394	0.0025	36	c.188 others(55): Show c.1881-5327_1881-5326insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4						chr5	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0055 a0001c0001t0099g0055	1	212	0.0047	36	c.34 others(47): Show c.3400_*3401insGCGCGCGCGCGCGCACACACACACACACACACAC AC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0138 a0001c0001t0098g0138	1	212	0.0047	36	c.34 others(47): Show c.3400_*3401insGCGCGCGCGCGCACACACACACACACACACACAC AC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0202 a0001c0001t0089g0202	1	212	0.0047	36	c.34 others(47): Show c.3400_*3401insGCGCGCGCACACACACACACACACACACACACAC AC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18992.hp2 HG02055.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0209 a0001c0001t0005g0098 a0001c0001t0002g0209 a0001c0001t0005g0098	2	218	0.0092	36	c.-5+ others(51): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18990.hp1 NA18974.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0166 a0001c0001t0001g0167 a0001c0001t0003g0166	2	218	0.0092	36	c.-5+ others(51): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	218	0.0046	36	c.-5+ others(51): Show c.-5+6378_-5+6379insCTTCCTTCCTTCCTTCTTCCTTCCTTCCTT CCTTCC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15						chr11	TogoVar
SPAG16_chr2_213279464_214415501	213833477	A A	ATATATAT others(29): Show ATATATATATTATATATATTATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02615.hp1 HG02886.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0067 a0005c0005t0001g0081 a0001c0001t0002g0067 a0005c0005t0001g0081	2	86	0.0233	36	c.107 others(57): Show c.1071-28991_1071-28990insTTATATATAATATATATATTATAT ATATTATATATA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980200	A A	ATATATAT others(29): Show ATATATATATAGAATATATGTGTGTATATATATTCTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18993.hp2 NA19090.hp1 NA18992.hp2 NA18993.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0056 a0002c0002t0001g0063 a0002c0002t0001g0064	3	86	0.0349	36	c.140 others(57): Show c.1401-33571_1401-33536dupCTATATATATAGAATATATGTGTG TATATATATTCT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp2 NA18522.hp1 HG01361.hp1 HG01496.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0001g0053 a0002c0002t0002g0074 a0003c0003t0001g0026 a0002c0002t0001g0053 a0002c0002t0002g0074 a0003c0003t0001g0026	3	86	0.0349	36	c.172 others(57): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352565	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0081 a0005c0005t0001g0081	1	86	0.0116	36	c.172 others(57): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GAGTGTGTGTGT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18979.hp1 NA19005.hp2 others(1): Show HG00621.hp2 NA18979.hp1 NA19005.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0050 others(1): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0050 a0002c0008t0001g0048	4	266	0.0150	36	c.135 others(55): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACACACAC		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48						chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGGAAAG others(29): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	320	0.0031	36	c.-58 others(45): Show c.-580_-579insAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	330	0.0030	36	c.-18 others(47): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTTTTTTTTT TT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	330	0.0030	36	c.-18 others(47): Show c.-1805_-1804insATATATATATATATATATATTTTTTTTTTTTTTT TT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0066 a0007c0007t0001g0066	1	330	0.0030	36	c.-18 others(47): Show c.-1805_-1804insATATATATATATATATATATATATTTTTTTTTTT TT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	330	0.0030	36	c.-18 others(47): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT TT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51076982	T T	TTATCTAG others(29): Show TTATCTAGCTATCTAGCTATCTAGCTAGCTAGCTAGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG02132.hp2 others(5): Show HG00558.hp2 HG00609.hp1 HG02132.hp2 NA18955.hp2 NA18959.hp2 NA18999.hp2 NA19010.hp1 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0009t0002	a0001c0001t0001g0156 a0001c0001t0002g0078 a0001c0001t0002g0091 others(5): Show a0001c0001t0001g0156 a0001c0001t0002g0078 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0171 a0001c0001t0003g0160 a0004c0009t0002g0094	8	292	0.0274	36	c.424 others(53): Show c.424+2566_424+2601dupGCTAGCTAGCTAGCTAGATAGCTAGATA GCTAGATA		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077013	G G	GCTAGCTA others(29): Show GCTAGCTATCTAGCTATCTAGCTATCTAGCTATCTAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	292	0.0034	36	c.424 others(53): Show c.424+2570_424+2571insATAGATAGCTAGATAGCTAGATAGCTAG ATAGCTAG		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077057	G G	GCTATCTA others(29): Show GCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	292	0.0034	36	c.424 others(53): Show c.424+2491_424+2526dupATAGCTAGCTAGATAGCTAGATAGCTAG CTAGATAG		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29						chr17	TogoVar
SPAST_chr2_32058556_32162637	32110845	T T	TCGTGTGT others(29): Show TCGTGTGTATAGAGTATATATACAGTATACTATATCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03669.hp1 HG03491.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0063 a0001c0001t0003g0064	2	342	0.0059	36	c.683 others(53): Show c.683-3793_683-3792insCGTGTGTATAGAGTATATATACAGTATA CTATATCG		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16						chr2	TogoVar
SPAST_chr2_32058556_32162637	32110846	A A	AGTGTGTA others(29): Show AGTGTGTATAGAGTATATATACAGTATACTATATAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00642.hp2 others(27): Show HG00408.hp2 HG00621.hp2 HG00642.hp2 HG01081.hp1 HG01109.hp2 HG01934.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02572.hp1 HG02723.hp2 HG03471.hp2 NA18612.hp1 NA18939.hp1 NA18980.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp1 NA19063.hp2 NA19078.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0083 others(27): Show a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0340 a0001c0001t0003g0050 a0001c0001t0003g0058 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0111 a0001c0001t0007g0187 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0009g0072	30	342	0.0877	36	c.683 others(53): Show c.683-3790_683-3789insGTGTATAGAGTATATATACAGTATACTA TATAGTGT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110846	A A	AGTGTGTA others(29): Show AGTGTGTATAGAGTATATATACAGTATACTATATCGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG00639.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0164 a0001c0001t0001g0173	2	342	0.0059	36	c.683 others(53): Show c.683-3790_683-3789insGTGTATAGAGTATATATACAGTATACTA TATCGTGT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(29): Show TTATATATAATTATATAATATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0137 a0001c0006t0026g0137	1	356	0.0028	36	c.-11 others(57): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02818.hp2 HG02886.hp2 others(1): Show HG01978.hp2 HG02818.hp2 HG02886.hp2 HG04199.hp2	a0001 a0010 a0020 a0001 a0010 a0020	a0001c0001 a0010c0020 a0020c0036 a0001c0001 a0010c0020 a0020c0036	a0001c0001t0004 a0001c0001t0016 a0010c0020t0101 others(1): Show a0001c0001t0004 a0001c0001t0016 a0010c0020t0101 a0020c0036t0021	a0001c0001t0004g0167 a0001c0001t0016g0143 a0010c0020t0101g0025 others(1): Show a0001c0001t0004g0167 a0001c0001t0016g0143 a0010c0020t0101g0025 a0020c0036t0021g0072	4	356	0.0112	36	c.65 others(47): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA TA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2215		chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATTTAT others(29): Show TTATTTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0098 a0001c0001t0047g0098	1	356	0.0028	36	c.65 others(47): Show c.6510_*6511insTATTTATATATATATATATATATATATATATATA TA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2215		chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0189 a0001c0003t0004g0189	1	356	0.0028	36	c.65 others(47): Show c.6510_*6511insTTTATATATATATATATATATATATATATATATA TA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	173119774	C C	CAAATGTT others(29): Show CAAATGTTGCTGGCCAGGCGCGATGGCTCACGCCTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01109.hp2 others(21): Show HG00642.hp1 HG00738.hp1 HG01109.hp2 HG01255.hp1 HG01258.hp1 HG01496.hp2 HG01928.hp1 HG02647.hp1 HG03017.hp1 HG03492.hp2 HG04115.hp1 NA18950.hp2 NA18954.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18995.hp1 NA19056.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0017 a0001c0001 a0001c0004 a0008c0017	a0001c0001t0001 a0001c0004t0001 a0008c0017t0001 a0001c0001t0001 a0001c0004t0001 a0008c0017t0001	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0041 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0004t0001g0026 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0073 a0001c0004t0001g0083 a0001c0004t0001g0095 a0001c0004t0001g0180 a0008c0017t0001g0082	24	200	0.1200	36	c.-18 others(53): Show c.-18-2061_-18-2026dupACAGGCGTGAGCCATCGCGCCTGGCCAG CAACATTT		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	1/10						chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	252	0.0040	36	c.519 others(53): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATATAT ATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	252	0.0040	36	c.519 others(53): Show c.519+7888_519+7889insCTCTCTCTCTCTCTATATATATATATAT ATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	252	0.0040	36	c.519 others(53): Show c.519+7888_519+7889insCTCTCTCTCTCTCTCTCTCTATATATAT ATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA31C2_chr9_88124305_88143475	88133647	G G	GGACACTG others(29): Show GGACACTGGGAGACAAGATGACGCTGGGAGACAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02683.hp2 HG03491.hp2 HG03492.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2	a0000 a0000	a0000c0023 a0000c0051 a0000c0023 a0000c0051	a0000c0023t0001 a0000c0051t0001 a0000c0023t0001 a0000c0051t0001	a0000c0023t0001g0094 a0000c0023t0001g0095 a0000c0051t0001g0245 a0000c0023t0001g0094 a0000c0023t0001g0095 a0000c0051t0001g0245	3	446	0.0067	36	c.211 others(43): Show c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGTGTC	p.Arg others(47): Show p.Arg70_Pro71insHisLeuValSerGlnArgHisLeuValSerGlnC ys	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	2/4	240/3761	211/3405	71/1134			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88133647	G G	GGACGCTG others(29): Show GGACGCTGGGAGACAAGATGACGCTGGGAGACAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp2 HG02074.hp2 HG02080.hp2 others(21): Show HG00558.hp2 HG02074.hp2 HG02080.hp2 HG02523.hp2 HG03927.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19067.hp1 NA19084.hp2	a0004 a0034 a0004 a0034	a0004c0005 a0034c0050 a0004c0005 a0034c0050	a0004c0005t0001 a0034c0050t0001 a0004c0005t0001 a0034c0050t0001	a0004c0005t0001g0001 a0004c0005t0001g0060 a0004c0005t0001g0258 others(4): Show a0004c0005t0001g0001 a0004c0005t0001g0060 a0004c0005t0001g0258 a0004c0005t0001g0271 a0004c0005t0001g0274 a0004c0005t0001g0306 a0034c0050t0001g0273	24	446	0.0538	36	c.211 others(43): Show c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTC	p.Arg others(47): Show p.Arg70_Pro71insHisLeuValSerGlnArgHisLeuValSerGlnA rg	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	2/4	240/3761	211/3405	71/1134			chr9	TogoVar
SPATA48_chr7_50090883_50164256	50125319	C C	CATATATA others(29): Show CATATATACACATATATATACATATATACACACACAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	328	0.0031	36	c.652 others(53): Show c.652-4371_652-4370insCACACACATATATATACACATATATATA CATATATA		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50125319	C C	CATATATA others(29): Show CATATATACACATATATATACATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02135.hp2 HG02148.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19084.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 others(1): Show a0002c0002 a0002c0005 a0003c0003 a0003c0006	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0003c0006t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(73): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0024 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0241 a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0262 a0002c0005t0001g0263 a0002c0005t0001g0264 a0003c0003t0001g0074 a0003c0003t0001g0080 a0003c0006t0001g0250	79	328	0.2409	36	c.652 others(53): Show c.652-4376_652-4341dupTATATATACACACATATATATACACATA TATATACA		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50125366	A A	ATATATAT others(29): Show ATATATATACATATATATACACACATATATATACACG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp1 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0005 a0002c0010 others(1): Show a0002c0002 a0002c0005 a0002c0010 a0004c0007	a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 others(1): Show a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0004c0007t0001	a0002c0002t0001g0118 a0002c0005t0001g0306 a0002c0005t0001g0310 others(5): Show a0002c0002t0001g0118 a0002c0005t0001g0306 a0002c0005t0001g0310 a0002c0010t0001g0308 a0002c0010t0001g0309 a0004c0007t0001g0304 a0004c0007t0001g0305 a0004c0007t0001g0307	8	328	0.0244	36	c.652 others(53): Show c.652-4341_652-4340insTATATATACACACATATATATACACGTA TATATACA		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	123132614	A A	ATATATAT others(29): Show ATATATATATGTGTACATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20300.hp2 HG01123.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0093 a0001c0001t0009g0095	2	262	0.0076	36	c.234 others(57): Show c.2340+41910_2340+41911insATATATATGTGTACATATATATAT ATATATATATGT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	300	0.0033	36	c.39+ others(51): Show c.39+6751_39+6752insAAAAAAAAAAAAAATATATATATATATATA TATATA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02056.hp1 HG03130.hp2 others(1): Show HG00099.hp2 HG02056.hp1 HG03130.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0020 a0001c0001t0057	a0001c0001t0003g0003 a0001c0001t0013g0085 a0001c0001t0020g0051 others(1): Show a0001c0001t0003g0003 a0001c0001t0013g0085 a0001c0001t0020g0051 a0001c0001t0057g0298	4	300	0.0133	36	c.957 others(51): Show c.957+980_957+981insACACACACACACACACACACACACACACAC ACACAC		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	394	0.0025	36	c.-39 others(47): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AA		SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding					3478		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(29): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA19082.hp2 NA20300.hp2 NA18945.hp2 NA19082.hp2 NA20300.hp2	a0005 a0011 a0022 a0005 a0011 a0022	a0005c0004 a0011c0015 a0022c0031 a0005c0004 a0011c0015 a0022c0031	a0005c0004t0004 a0011c0015t0004 a0022c0031t0004 a0005c0004t0004 a0011c0015t0004 a0022c0031t0004	a0005c0004t0004g0070 a0011c0015t0004g0019 a0022c0031t0004g0020 a0005c0004t0004g0070 a0011c0015t0004g0019 a0022c0031t0004g0020	3	164	0.0183	36	c.-38 others(47): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AG		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding					3396		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0226 a0004c0005t0009g0226	1	250	0.0040	36	c.-22 others(55): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT ATTTTTTTTT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0170 a0001c0001t0077g0170	1	250	0.0040	36	c.259 others(55): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751045	A A	ATATATAT others(29): Show ATATATATATACGTATATACATACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0033 a0033	a0033c0028 a0033c0028	a0033c0028t0001 a0033c0028t0001	a0033c0028t0001g0190 a0033c0028t0001g0190	1	268	0.0037	36	c.333 others(55): Show c.3331-2561_3331-2560insCATACGTATATATATACGTATATATA TACGTATATA		SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36					INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	304	0.0033	36	c.882 others(53): Show c.882-4844_882-4843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPHKAP_chr2_227974955_228186687	228064123	G G	GAATCTAA others(29): Show GAATCTAAAAATGATAACATTGGAATACCAGAATTCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0008 a0016c0023t0008	a0016c0023t0008g0224 a0016c0023t0008g0224	1	322	0.0031	36	c.247 others(55): Show c.247-36616_247-36581dupAGAATTCTGGTATTCCAATGTTATCA TTTTTAGATT		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11						chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0123 a0004c0004t0003g0123	1	322	0.0031	36	c.139 others(53): Show c.139-4700_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11						chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00609.hp2 others(27): Show HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01257.hp1 HG01928.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03831.hp1 HG04184.hp2 NA18950.hp2 NA18956.hp1 NA18964.hp1 NA18986.hp2 NA19012.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0015	a0001c0001 a0002c0002 a0003c0005 others(6): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004 a0005c0003 a0006c0007 a0008c0009 a0010c0011 a0015c0029	a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 others(8): Show a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 a0003c0005t0007 a0004c0004t0003 a0005c0003t0001 a0005c0003t0004 a0006c0007t0001 a0008c0009t0003 a0010c0011t0001 a0015c0029t0002	a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0153 others(27): Show a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0153 a0001c0001t0002g0196 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0263 a0001c0001t0002g0291 a0002c0002t0001g0210 a0002c0002t0001g0239 a0002c0002t0001g0242 a0003c0005t0001g0127 a0003c0005t0001g0129 a0003c0005t0001g0307 a0003c0005t0007g0144 a0004c0004t0003g0021 a0004c0004t0003g0069 a0004c0004t0003g0113 a0004c0004t0003g0131 a0004c0004t0003g0188 a0004c0004t0003g0287 a0004c0004t0003g0304 a0005c0003t0001g0133 a0005c0003t0004g0315 a0006c0007t0001g0134 a0006c0007t0001g0135 a0008c0009t0003g0251 a0010c0011t0001g0176 a0015c0029t0002g0257	30	322	0.0932	36	c.33- others(51): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11						chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01433.hp1 HG02572.hp2 HG00544.hp2 HG01433.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0061 a0001c0001t0001g0154 a0001c0001t0001g0158	3	390	0.0077	36	c.-31 others(47): Show c.-3135_-3134insTATATATATATATATATATATATATATATATATA TA		SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding					2941		chr11	TogoVar

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