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
SPAST_chr2_32058556_32162637	32083731	CTATATAT others(14): Show CTATATATATTTATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01261.hp1 others(17): Show HG01070.hp1 HG01109.hp1 HG01261.hp1 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 others(17): Show a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0004g0194 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0006g0251 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0213	20	342	0.0585	-21	c.416 others(38): Show c.416-3751_416-3731delTTATATATACTATATATATAT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110227	TCCTGCTT others(14): Show TCCTGCTTCAGTCTCCCGAGTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0059 a0001c0001t0003g0060	2	342	0.0059	-21	c.683 others(38): Show c.683-4406_683-4386delCTTCAGTCTCCCGAGTACCTG		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111970	TTAGTAGT others(14): Show TTAGTAGTAGTAGTAGTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02622.hp1 others(3): Show HG01109.hp1 HG02258.hp1 HG02622.hp1 HG03041.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 others(3): Show a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0011g0004 a0001c0001t0011g0005	6	342	0.0175	-21	c.683 others(38): Show c.683-2645_683-2625delAGTAGTAGTAGTAGTAGTAGT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA16_chr3_172884357_173146235	172919018	TTGTTCAT others(14): Show TTGTTCATTTCAAATGTGCATA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	200	0.0050	-21	c.133 others(40): Show c.1339-2558_1339-2538delTATGCACATTTGAAATGAACA		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	8/10						chr3	TogoVar
SPATA17_chr1_217626344_217876696	217704230	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0073 a0001c0004t0004g0073	1	252	0.0040	-21	c.395 others(40): Show c.395+20880_395+20900delTTTTTTTTTTTTTTTTTTTTT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA31C2_chr9_88124305_88143475	88137926	CCCATCTC others(14): Show CCCATCTCATGACCAGAGACCT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	446	0.0022	-21	c.189 others(36): Show c.189+311_189+331delAGGTCTCTGGTCATGAGATGG		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3						chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03130.hp1 HG01256.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0032 a0002c0002t0003g0032 a0002c0002t0001g0032 a0002c0002t0003g0032	2	380	0.0053	-21	c.293 others(34): Show c.293+65_293+85delTTTTTTTTTTTTTTTTTTTTT		SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA3_chr2_230991121_231013040	231005115	TCACCACC others(14): Show TCACCACCACCATCATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02738.hp2 HG02451.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0054	2	436	0.0046	-21	c.11 others(40): Show c.118+1012_*118+1032delTCATCACCACCACCACCATCA		SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA5_chr4_122918078_123324433	123017162	AGGGGAGA others(14): Show AGGGGAGAGGGAGAGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(114): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0003c0003 a0005c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0043 a0001c0001t0048 a0001c0001t0051 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0031 a0001c0004t0032 a0001c0004t0069 a0001c0005t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0022 a0003c0003t0023 a0003c0003t0055 a0005c0007t0064 a0005c0007t0066 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(114): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0255 a0001c0001t0003g0066 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0239 a0001c0001t0005g0028 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0070 a0001c0001t0006g0003 a0001c0001t0006g0098 a0001c0001t0006g0240 a0001c0001t0008g0017 a0001c0001t0011g0178 a0001c0001t0013g0071 a0001c0001t0016g0044 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0020g0052 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0024g0029 a0001c0001t0024g0048 a0001c0001t0025g0067 a0001c0001t0025g0069 a0001c0001t0027g0106 a0001c0001t0028g0025 a0001c0001t0043g0172 a0001c0001t0048g0030 a0001c0001t0051g0174 a0001c0001t0060g0081 a0001c0001t0061g0047 a0001c0001t0063g0053 a0001c0001t0065g0063 a0001c0001t0068g0056 a0001c0001t0072g0045 a0001c0001t0073g0019 a0001c0001t0074g0076 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0011g0149 a0001c0004t0013g0144 a0001c0004t0031g0147 a0001c0004t0032g0146 a0001c0004t0069g0143 a0001c0005t0002g0020 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0055g0012 a0005c0007t0064g0256 a0005c0007t0066g0254 a0007c0011t0002g0018 a0008c0010t0002g0036	117	262	0.4466	-21	c.187 others(42): Show c.1870-11023_1870-11003delGGGGAGAGGGAGAGGGGGGAG		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15						chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4644183	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01884.hp2 others(17): Show HG00639.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0005 others(1): Show a0001c0001 a0001c0006 a0002c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0006t0028 a0002c0005t0005 a0002c0005t0010 a0002c0005t0031 a0005c0009t0033	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0132 others(17): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0002g0278 a0001c0001t0010g0124 a0001c0001t0010g0166 a0001c0001t0013g0100 a0001c0001t0014g0072 a0001c0001t0014g0168 a0001c0006t0028g0174 a0002c0005t0005g0099 a0002c0005t0010g0096 a0002c0005t0010g0158 a0002c0005t0031g0146 a0005c0009t0033g0175 a0005c0009t0033g0178	20	408	0.0490	-21	c.227 others(38): Show c.227-8805_227-8785delTTTTTTTTTTTTTTTTTTTTT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6_chr1_48290373_48477204	48377374	ACCAATAT others(14): Show ACCAATATTTTAGTTGCTTAGC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	322	0.0031	-21	c.909 others(38): Show c.909+7914_909+7934delGCTAAGCAACTAAAATATTGG		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48380814	CCAGGCCT others(14): Show CCAGGCCTCCTCTCCTCTAGTG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	322	0.0031	-21	c.909 others(38): Show c.909+4474_909+4494delCACTAGAGGAGAGGAGGCCTG		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp2 HG04204.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0257	3	338	0.0089	-21	c.294 others(36): Show c.294+740_294+760delAAAAATATATATATATATATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0259 a0001c0006t0003g0259	1	338	0.0030	-21	c.294 others(36): Show c.294+744_294+764delATATATATATATATATATATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	338	0.0030	-21	c.294 others(36): Show c.294+745_294+765delTATATATATATATATATATAT		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7						chr2	TogoVar
SPDYA_chr2_28805834_28855610	28823724	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02738.hp1 HG02886.hp2 others(1): Show HG00280.hp2 HG02738.hp1 HG02886.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0250 a0001c0001t0002g0023	4	338	0.0118	-21	c.380 others(38): Show c.380+1316_380+1336delTATATATATATATATATATAA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166391	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03209.hp1 HG03669.hp1 HG02896.hp2 HG03209.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	442	0.0068	-21	c.-39 others(32): Show c.-3901_-3881delTTTTTTTTTTTTTTTTTTTTT		SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding					3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73101923	GTGTCAAT others(14): Show GTGTCAATGCCGATATTTCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0015 a0001c0001t0018g0015	1	216	0.0046	-21	c.35 others(32): Show c.3588_*3608delACAGAAATATCGGCATTGACA		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					2084		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73150908	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0166 a0002c0003t0002g0166	1	216	0.0046	-21	c.-64 others(40): Show c.-640+4394_-640+4414delATATATATATATATATATATA		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8						chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73154800	GGCAGCAA others(14): Show GGCAGCAACAGCAGCAACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20905.hp2 HG02886.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0144 a0001c0002t0001g0049 a0001c0001t0015g0144 a0001c0002t0001g0049	2	216	0.0093	-21	c.-64 others(38): Show c.-640+502_-640+522delTGCTGTTGCTGCTGTTGCTGC		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8						chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76541943	TAAGAGTG others(14): Show TAAGAGTGAGATTATCATGTAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0124 a0002c0004t0022g0124	1	255	0.0039	-21	c.-42 others(36): Show c.-421-84_-421-64delGTACATGATAATCTCACTCTT		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8						chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76541960	TGTACAAG others(14): Show TGTACAAGAGTGAGATTATCAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18747.hp2 HG04199.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0105 a0002c0002t0002g0106	2	255	0.0078	-21	c.-42 others(37): Show c.-421-101_-421-81delGTGATAATCTCACTCTTGTAC		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8						chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76541981	CGTACAAG others(14): Show CGTACAAGAGTGAGATTATCAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00733.hp2 others(4): Show HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01106.hp2 HG01496.hp1 HG02071.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0006g0036	7	255	0.0275	-21	c.-42 others(38): Show c.-421-122_-421-102delATGATAATCTCACTCTTGTAC		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8						chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77061013	TGTACAAG others(14): Show TGTACAAGAGTGAGATTATCAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04115.hp1 NA18983.hp1 others(4): Show HG03209.hp2 HG04115.hp1 NA18983.hp1 NA18992.hp1 NA19082.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0001t0004 a0001c0001t0010 a0001c0001t0022	a0001c0001t0004g0069 a0001c0001t0010g0021 a0001c0001t0010g0121 others(2): Show a0001c0001t0004g0069 a0001c0001t0010g0021 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0022g0120	7	416	0.0168	-21	c.-42 others(37): Show c.-421-101_-421-81delGTGATAATCTCACTCTTGTAC		SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8						chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43999396	TCTCTTGT others(14): Show TCTCTTGTACATGATAATCTCA	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	394	0.0025	-21	c.-42 others(36): Show c.-422-84_-422-64delGTACATGATAATCTCACTCTT		SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02622.hp1 others(6): Show HG01884.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp2 NA19043.hp1 NA19043.hp2	a0007 a0010 a0007 a0010	a0007c0008 a0010c0013 a0007c0008 a0010c0013	a0007c0008t0007 a0010c0013t0013 a0007c0008t0007 a0010c0013t0013	a0007c0008t0007g0030 a0007c0008t0007g0053 a0007c0008t0007g0115 others(3): Show a0007c0008t0007g0030 a0007c0008t0007g0053 a0007c0008t0007g0115 a0007c0008t0007g0116 a0010c0013t0013g0093 a0010c0013t0013g0121	9	460	0.0196	-21	c.-26 others(32): Show c.-2653_-2633delAAAAAAAAAAAAAAAAAAAAA		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding					2109		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278188	CACATGAT others(14): Show CACATGATAATCTCACTCTTGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0166 a0003c0003t0002g0166	1	460	0.0022	-21	c.-42 others(36): Show c.-422-84_-422-64delGTACATGATAATCTCACTCTT		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102651806	GTGATAAT others(14): Show GTGATAATCTCACTCTTGTACA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	128	0.0078	-21	c.-42 others(36): Show c.-421-95_-421-75delATCTCACTCTTGTACATGATA		SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102552713	GTGATAAT others(14): Show GTGATAATCTCACTCTTGTACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0072 a0001c0001t0020g0072	1	164	0.0061	-21	c.-42 others(36): Show c.-421-95_-421-75delATCTCACTCTTGTACATGATA		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75493495	TCTCTTGT others(14): Show TCTCTTGTACATGATAATCTCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01071.hp1 others(12): Show HG00099.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01255.hp2 HG01261.hp1 HG02698.hp1 HG02886.hp1 HG03453.hp2 HG03669.hp2 HG04204.hp2 NA18612.hp2 NA18957.hp1 NA18981.hp2 NA20752.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0009 a0005c0007t0008 a0005c0007t0009	a0005c0007t0008g0029 a0005c0007t0008g0030 a0005c0007t0008g0031 others(9): Show a0005c0007t0008g0029 a0005c0007t0008g0030 a0005c0007t0008g0031 a0005c0007t0008g0052 a0005c0007t0008g0053 a0005c0007t0008g0054 a0005c0007t0009g0055 a0005c0007t0009g0056 a0005c0007t0009g0057 a0005c0007t0009g0058 a0005c0007t0009g0161 a0005c0007t0009g0162	15	408	0.0368	-21	c.-42 others(36): Show c.-421-84_-421-64delGTACATGATAATCTCACTCTT		SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(117): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(116): Show a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0070 a0001c0001t0003g0092 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0305 a0001c0001t0006g0042 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0166 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0014g0172 a0001c0001t0014g0292 a0001c0001t0039g0147 a0001c0001t0040g0149 a0001c0001t0041g0169 a0001c0001t0042g0191 a0001c0001t0043g0144 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0089 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0291 a0001c0002t0002g0306 a0001c0002t0002g0318 a0001c0002t0010g0064 a0001c0002t0010g0088 a0001c0002t0010g0091 a0001c0002t0010g0105 a0001c0002t0011g0111 a0001c0002t0011g0112 a0001c0002t0011g0116 a0001c0002t0011g0128 a0001c0002t0019g0131 a0001c0002t0021g0138 a0001c0002t0022g0086 a0001c0004t0002g0113 a0002c0003t0001g0038 a0002c0003t0002g0096 a0002c0003t0002g0102 a0002c0003t0002g0103 a0002c0003t0002g0104 a0002c0003t0002g0117	120	326	0.3681	-21	c.308 others(42): Show c.3087+14492_3087+14512delTTTTTTTTTTTTTTTTTTTTT		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20032389	AGTATGCA others(14): Show AGTATGCATATGTTAATGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp1 HG02083.hp1 others(35): Show HG00408.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19081.hp1 NA19087.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0005 others(1): Show a0001c0003 a0003c0004 a0004c0005 a0004c0015	a0001c0003t0007 a0001c0003t0017 a0001c0003t0018 others(24): Show a0001c0003t0007 a0001c0003t0017 a0001c0003t0018 a0001c0003t0035 a0001c0003t0036 a0001c0003t0039 a0001c0003t0040 a0001c0003t0050 a0001c0003t0051 a0001c0003t0107 a0003c0004t0019 a0003c0004t0042 a0003c0004t0043 a0003c0004t0054 a0004c0005t0008 a0004c0005t0009 a0004c0005t0023 a0004c0005t0038 a0004c0005t0046 a0004c0005t0056 a0004c0005t0057 a0004c0005t0058 a0004c0005t0064 a0004c0005t0065 a0004c0005t0066 a0004c0005t0067 a0004c0015t0059	a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(35): Show a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 a0001c0003t0017g0208 a0001c0003t0018g0213 a0001c0003t0035g0243 a0001c0003t0036g0214 a0001c0003t0039g0207 a0001c0003t0040g0206 a0001c0003t0050g0209 a0001c0003t0051g0216 a0001c0003t0107g0218 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0042g0210 a0003c0004t0043g0203 a0003c0004t0054g0217 a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 a0004c0005t0008g0233 a0004c0005t0008g0235 a0004c0005t0009g0226 a0004c0005t0009g0232 a0004c0005t0009g0240 a0004c0005t0009g0241 a0004c0005t0023g0225 a0004c0005t0023g0234 a0004c0005t0038g0237 a0004c0005t0046g0202 a0004c0005t0056g0236 a0004c0005t0057g0223 a0004c0005t0058g0239 a0004c0005t0064g0222 a0004c0005t0065g0231 a0004c0005t0066g0224 a0004c0005t0067g0238 a0004c0015t0059g0230	38	250	0.1520	-21	c.-22 others(40): Show c.-22+22966_-22+22986delGTATGCATATGTTAATGTGAT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14						chr17	TogoVar
SPECC1_chr17_20004359_20324026	20157059	TATTTGAA others(14): Show TATTTGAATTTTAATTTGAATG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0056 a0001c0003t0048g0056	1	250	0.0040	-21	c.283 others(40): Show c.283+46499_283+46519delTTTGAATTTTAATTTGAATGA		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20291917	TGTTGGAA others(14): Show TGTTGGAAACGATCTAGTATCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(27): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18942.hp1 NA18968.hp2 NA18998.hp2 NA19066.hp1 NA19080.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0013 a0003c0004 a0003c0007 a0003c0013	a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 others(8): Show a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0034 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0007t0016 a0003c0013t0112	a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 others(27): Show a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0078 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0007t0016g0073 a0003c0007t0016g0081 a0003c0013t0112g0097	30	250	0.1200	-21	c.294 others(40): Show c.2941-5041_2941-5021delTGGAAACGATCTAGTATCCGT		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPG11_chr15_44557696_44668662	44633324	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02970.hp2 others(5): Show HG01891.hp2 HG02109.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2 NA19043.hp2	a0001 a0010 a0017 others(1): Show a0001 a0010 a0017 a0018	a0001c0001 a0010c0010 a0017c0022 others(1): Show a0001c0001 a0010c0010 a0017c0022 a0018c0023	a0001c0001t0001 a0010c0010t0001 a0017c0022t0001 others(1): Show a0001c0001t0001 a0010c0010t0001 a0017c0022t0001 a0018c0023t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0010c0010t0001g0181 a0010c0010t0001g0184 a0017c0022t0001g0114 a0018c0023t0001g0175	8	190	0.0421	-21	c.173 others(38): Show c.1735+160_1735+180delTTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39						chr15	TogoVar
SPG11_chr15_44557696_44668662	44636937	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(12): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00673.hp2 HG03927.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18985.hp2 NA18992.hp2 NA19007.hp2 NA19064.hp2 NA19081.hp2 NA19085.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 others(12): Show a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016	15	190	0.0790	-21	c.160 others(40): Show c.1603-3321_1603-3301delGTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39						chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228092533	ATATATGT others(14): Show ATATATGTGCCATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00642.hp2 others(82): Show HG00140.hp1 HG00408.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19084.hp1 NA19088.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0012 a0014 a0016 a0017	a0001c0001 a0002c0002 a0002c0012 others(12): Show a0001c0001 a0002c0002 a0002c0012 a0002c0013 a0002c0015 a0002c0025 a0003c0005 a0003c0006 a0003c0027 a0004c0004 a0006c0007 a0012c0032 a0014c0028 a0016c0023 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0014 a0002c0012t0001 a0002c0013t0001 a0002c0015t0001 a0002c0025t0001 a0003c0005t0001 a0003c0005t0005 a0003c0006t0001 a0003c0006t0009 a0003c0027t0005 a0004c0004t0003 a0006c0007t0001 a0012c0032t0009 a0014c0028t0003 a0016c0023t0008 a0017c0022t0001	a0001c0001t0001g0093 a0001c0001t0002g0091 a0002c0002t0001g0001 others(82): Show a0001c0001t0001g0093 a0001c0001t0002g0091 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0051 a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0173 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0223 a0002c0002t0001g0239 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0014g0138 a0002c0012t0001g0015 a0002c0012t0001g0016 a0002c0013t0001g0047 a0002c0013t0001g0057 a0002c0015t0001g0018 a0002c0015t0001g0175 a0002c0025t0001g0050 a0003c0005t0001g0083 a0003c0005t0001g0094 a0003c0005t0001g0119 a0003c0005t0001g0248 a0003c0005t0005g0110 a0003c0006t0001g0007 a0003c0006t0001g0082 a0003c0006t0001g0097 a0003c0006t0001g0100 a0003c0006t0001g0106 a0003c0006t0001g0107 a0003c0006t0001g0109 a0003c0006t0009g0117 a0003c0027t0005g0105 a0004c0004t0003g0041 a0004c0004t0003g0044 a0004c0004t0003g0151 a0004c0004t0003g0188 a0004c0004t0003g0237 a0004c0004t0003g0287 a0006c0007t0001g0189 a0012c0032t0009g0101 a0014c0028t0003g0252 a0016c0023t0008g0224 a0017c0022t0001g0159	85	322	0.2640	-21	c.246 others(40): Show c.246+16278_246+16298delCACATATATATGGCACATATA		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11						chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228124721	TTAAAGTA others(14): Show TTAAAGTATAAAAAGAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(103): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03239.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0015 a0016 a0020	a0001c0001 a0002c0002 a0003c0005 others(11): Show a0001c0001 a0002c0002 a0003c0005 a0003c0024 a0004c0004 a0004c0020 a0005c0003 a0006c0007 a0007c0008 a0008c0009 a0010c0011 a0015c0029 a0016c0023 a0020c0017	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(17): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0002c0002t0013 a0003c0005t0001 a0003c0005t0007 a0003c0024t0001 a0004c0004t0003 a0004c0020t0003 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0006c0007t0001 a0007c0008t0008 a0008c0009t0003 a0010c0011t0001 a0015c0029t0002 a0016c0023t0008 a0020c0017t0012	a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0035 others(103): Show a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0011g0084 a0002c0002t0001g0197 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0256 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0013g0145 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0003c0005t0001g0248 a0003c0005t0001g0286 a0003c0005t0001g0294 a0003c0005t0007g0140 a0003c0005t0007g0144 a0003c0024t0001g0288 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0070 a0004c0004t0003g0072 a0004c0004t0003g0113 a0004c0004t0003g0130 a0004c0004t0003g0131 a0004c0004t0003g0151 a0004c0004t0003g0179 a0004c0004t0003g0188 a0004c0004t0003g0194 a0004c0004t0003g0206 a0004c0004t0003g0227 a0004c0004t0003g0231 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0237 a0004c0004t0003g0240 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0245 a0004c0004t0003g0253 a0004c0004t0003g0287 a0004c0020t0003g0142 a0005c0003t0001g0073 a0005c0003t0001g0132 a0005c0003t0001g0133 a0005c0003t0001g0208 a0005c0003t0001g0247 a0005c0003t0001g0295 a0005c0003t0002g0250 a0005c0003t0002g0272 a0005c0003t0003g0238 a0005c0003t0004g0311 a0005c0003t0004g0312 a0005c0003t0004g0313 a0005c0003t0004g0314 a0005c0003t0004g0315 a0006c0007t0001g0134 a0006c0007t0001g0135 a0006c0007t0001g0189 a0007c0008t0008g0088 a0007c0008t0008g0096 a0008c0009t0003g0154 a0008c0009t0003g0251 a0010c0011t0001g0176 a0015c0029t0002g0257 a0016c0023t0008g0224 a0020c0017t0012g0292	106	322	0.3292	-21	c.138 others(38): Show c.138+7238_138+7258delCTTTTTTCTTTTTATACTTTA		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11						chr2	TogoVar
SPIDR_chr8_47255938_47741306	47640841	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	216	0.0046	-21	c.154 others(42): Show c.1545-32936_1545-32916delTTTTTTTTTTTTTTTTTTTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK1_chr5_147819582_147836671	147823291	TCTCCTCC others(14): Show TCTCCTCCTCTACCTCCTCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02109.hp2 others(8): Show HG01167.hp2 HG01243.hp2 HG02109.hp2 HG02630.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp1 HG03579.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0008 a0002c0002t0001g0015	11	426	0.0258	-21	c.13 others(32): Show c.1349_*1369delGAAGAGGAGGTAGAGGAGGAG		SPINK1	ENSG00000164266.11	transcript	ENST00000296695.10	protein_coding					1290		chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137020456	TATAAAAG others(14): Show TATAAAAGATATTCAGAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02723.hp1 others(3): Show HG02109.hp1 HG02559.hp2 HG02723.hp1 HG03209.hp2 NA18953.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0029	a0001c0001t0002g0112 a0001c0001t0004g0034 a0001c0001t0007g0048 others(3): Show a0001c0001t0002g0112 a0001c0001t0004g0034 a0001c0001t0007g0048 a0001c0001t0007g0087 a0001c0001t0021g0068 a0001c0001t0029g0123	6	152	0.0395	-21	c.590 others(40): Show c.590-27877_590-27857delTTTCTTCTGAATATCTTTTAT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10						chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	152	0.0066	-21	c.187 others(40): Show c.187-25392_187-25372delTTTTTTTTTTTTTTTTTTTTT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166740510	TATTATTA others(14): Show TATTATTATTATTATTATTATC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02602.hp1 HG02622.hp1 others(10): Show HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0009	a0001c0001t0003 a0001c0003t0003 a0001c0003t0004 others(3): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0004 a0001c0005t0003 a0001c0006t0003 a0002c0009t0003	a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0047 others(10): Show a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0047 a0001c0001t0003g0061 a0001c0001t0003g0069 a0001c0001t0003g0120 a0001c0003t0003g0035 a0001c0003t0004g0074 a0001c0005t0003g0003 a0001c0005t0003g0007 a0001c0005t0003g0008 a0001c0006t0003g0005 a0002c0009t0003g0002	13	144	0.0903	-21	c.994 others(38): Show c.994+1466_994+1486delGATAATAATAATAATAATAAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	9/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205530	TTATATAA others(14): Show TTATATAATATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02280.hp2 others(2): Show HG01109.hp1 HG01884.hp1 HG02280.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0002g0016 others(2): Show a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0025 a0001c0001t0003g0069	5	144	0.0347	-21	c.189 others(40): Show c.189+28434_189+28454delTTATATAATATATATTATATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0033 a0001c0004t0001g0107 a0001c0002t0001g0033 a0001c0004t0001g0107	2	224	0.0089	-21	c.677 others(40): Show c.677-21820_677-21800delTTTTTTTTTTTTTTTTTTTTT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1172860	CTCCCCTC others(14): Show CTCCCCTCCCTGTCCCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	432	0.0023	-21	c.-34 others(30): Show c.-341_-321delAGGGAGGGGACAGGGAGGGGA		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding					278		chr4	TogoVar
SPON2_chr4_1161932_1177583	1176839	GTTCATTC others(14): Show GTTCATTCACACACTTCATTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02040.hp1 HG02129.hp1 others(1): Show HG00733.hp1 HG02040.hp1 HG02129.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0003 a0001c0001t0001g0001 a0002c0002t0001g0003	4	432	0.0093	-21	c.-43 others(32): Show c.-4320_-4300delTGAATGAAGTGTGTGAATGAA		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding					4257		chr4	TogoVar
SPRED2_chr2_65305851_65437599	65317513	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG02615.hp1 HG02630.hp1 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 others(1): Show a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0235	4	276	0.0145	-21	c.439 others(36): Show c.439-651_439-631delGTTGTTGTTGTTGTTGTTGTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRR1A_chr1_152979081_152990814	152980554	AGGCTCCT others(14): Show AGGCTCCTAACACCTGGGATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02922.hp1 HG02976.hp2 others(1): Show HG02055.hp2 HG02922.hp1 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	402	0.0100	-21	c.-35 others(32): Show c.-3590_-3570delGGCTCCTAACACCTGGGATCT		SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding					3526		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948597	TGCTGCCC others(14): Show TGCTGCCCCCCACCCCAGCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(82): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA19063.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0011 a0002c0002 a0000c0011 a0002c0002	a0000c0011t0002 a0002c0002t0001 a0002c0002t0002 others(1): Show a0000c0011t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0000c0011t0002g0001 a0002c0002t0001g0006 a0002c0002t0001g0015 others(6): Show a0000c0011t0002g0001 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0023 a0002c0002t0004g0003	85	436	0.1950	-21	c.64_ others(26): Show c.64_84delCGCTGCCCCCCACCCCAGCAG	p.Arg others(11): Show p.Arg22_Gln28del	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	125/762	64/327	22/108		INFO_REALIGN_3_PRIME	chr1	TogoVar

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