JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(23): Show ATATATACGTATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02074.hp2 HG02559.hp2 others(14): Show HG01258.hp2 HG02074.hp2 HG02559.hp2 HG02886.hp1 NA18964.hp2 NA18985.hp2 NA19000.hp2 NA19001.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19068.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0028 a0001c0001 a0001c0009 a0001c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0009t0002 a0001c0028t0003	a0001c0001t0001g0298 a0001c0001t0001g0350 a0001c0001t0001g0362 others(14): Show a0001c0001t0001g0298 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0361 a0001c0001t0003g0368 a0001c0001t0010g0367 a0001c0001t0016g0359 a0001c0001t0016g0360 a0001c0009t0002g0352 a0001c0028t0003g0351	17	394	0.0432	30	c.235 others(45): Show c.235-779_235-778insCGTATATATATATATATATATACGTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166313008	T T	TTAAATAA others(23): Show TTAAATAATATAGTTATTATTTAATTTTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00597.hp2 others(109): Show HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp2 NA19006.hp1 NA19009.hp1 NA19030.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014 a0016 a0018 a0019 a0023	a0001c0002 a0001c0003 a0001c0007 others(26): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0017 a0001c0018 a0001c0026 a0001c0054 a0002c0009 a0002c0020 a0002c0036 a0003c0013 a0003c0052 a0004c0008 a0004c0038 a0005c0027 a0006c0019 a0006c0034 a0006c0051 a0007c0010 a0008c0021 a0008c0044 a0011c0025 a0014c0035 a0014c0045 a0016c0039 a0018c0043 a0019c0037 a0023c0046	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(48): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0028 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0013 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0007t0024 a0001c0012t0001 a0001c0012t0002 a0001c0012t0014 a0001c0017t0001 a0001c0018t0005 a0001c0018t0033 a0001c0018t0034 a0001c0026t0008 a0001c0054t0001 a0002c0009t0004 a0002c0020t0007 a0002c0036t0007 a0003c0013t0003 a0003c0052t0003 a0004c0008t0001 a0004c0008t0006 a0004c0008t0011 a0004c0008t0019 a0004c0008t0022 a0004c0038t0009 a0005c0027t0003 a0006c0019t0004 a0006c0034t0004 a0006c0051t0004 a0007c0010t0001 a0007c0010t0002 a0008c0021t0001 a0008c0044t0001 a0011c0025t0001 a0014c0035t0005 a0014c0045t0005 a0016c0039t0003 a0018c0043t0007 a0019c0037t0001 a0023c0046t0018	a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0100 others(109): Show a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0100 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0200 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0002t0002g0075 a0001c0002t0002g0115 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0170 a0001c0002t0005g0105 a0001c0002t0005g0255 a0001c0002t0005g0256 a0001c0002t0006g0269 a0001c0002t0016g0199 a0001c0002t0028g0253 a0001c0002t0031g0131 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0133 a0001c0003t0001g0254 a0001c0003t0001g0258 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0285 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0109 a0001c0003t0002g0205 a0001c0003t0002g0265 a0001c0003t0002g0284 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0012g0261 a0001c0003t0013g0289 a0001c0007t0001g0030 a0001c0007t0001g0060 a0001c0007t0001g0266 a0001c0007t0005g0259 a0001c0007t0005g0260 a0001c0007t0012g0018 a0001c0007t0024g0050 a0001c0012t0001g0264 a0001c0012t0002g0117 a0001c0012t0002g0178 a0001c0012t0014g0005 a0001c0017t0001g0130 a0001c0017t0001g0288 a0001c0018t0005g0097 a0001c0018t0033g0291 a0001c0018t0034g0290 a0001c0026t0008g0122 a0001c0026t0008g0267 a0001c0054t0001g0016 a0002c0009t0004g0093 a0002c0009t0004g0282 a0002c0009t0004g0283 a0002c0009t0004g0286 a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0003c0013t0003g0159 a0003c0013t0003g0160 a0003c0013t0003g0161 a0003c0052t0003g0127 a0004c0008t0001g0198 a0004c0008t0001g0203 a0004c0008t0001g0204 a0004c0008t0001g0276 a0004c0008t0006g0077 a0004c0008t0011g0206 a0004c0008t0019g0002 a0004c0008t0022g0010 a0004c0038t0009g0281 a0005c0027t0003g0121 a0006c0019t0004g0201 a0006c0019t0004g0251 a0006c0019t0004g0252 a0006c0034t0004g0293 a0006c0051t0004g0263 a0007c0010t0001g0098 a0007c0010t0001g0099 a0007c0010t0001g0112 a0007c0010t0001g0114 a0007c0010t0001g0249 a0007c0010t0002g0113 a0008c0021t0001g0262 a0008c0044t0001g0182 a0011c0025t0001g0080 a0011c0025t0001g0181 a0014c0035t0005g0292 a0014c0045t0005g0197 a0016c0039t0003g0268 a0018c0043t0007g0277 a0019c0037t0001g0239 a0023c0046t0018g0019	112	296	0.3784	30	c.-50 others(47): Show c.-50-1203_-50-1202insCAGAAAATTAAATAATAACTATATTATT TA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTGTTG others(23): Show GGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0127 a0001c0012t0001g0131 a0001c0012t0001g0127 a0001c0012t0001g0131	2	290	0.0069	30	c.464 others(43): Show c.464+83_464+84insTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	320	0.0031	30	c.-22 others(41): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204304	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	320	0.0031	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA TATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(23): Show TACATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	320	0.0031	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATAGA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(23): Show TACATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0125	1	320	0.0031	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	320	0.0031	30	c.107 others(49): Show c.1078-5415_1078-5414insTATATATATATATATATATATATATA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52945744	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03471.hp2 others(1): Show HG02451.hp2 HG03139.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0003t0001g0169 others(1): Show a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0003t0001g0169 a0001c0003t0001g0277	4	280	0.0143	30	c.128 others(47): Show c.128-2249_128-2248insATATATATATATATATATATATATATAT AT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173399465	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	380	0.0026	30	c.-41 others(39): Show c.-413_-412insACACACACACACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		350		chr4	TogoVar
SCTR_chr2_119434843_119529483	119512340	C C	CCCTTCCC others(23): Show CCCTTCCCCTTCCCCTTCTCCTTCTCCTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	290	0.0035	30	c.72+ others(47): Show c.72+11814_72+11815insAGAAGGAGAAGGAGAAGGGGAAGGGGAA GG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCT_chr11_621309_632181	627743	C C	CCGTTCAC others(23): Show CCGTTCACAGACGCTCCCGTCCTCCCAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02559.hp1 HG03471.hp2 others(1): Show HG02080.hp1 HG02559.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	4	411	0.0097	30	c.-60 others(39): Show c.-601_-600insATTTTGGGAGGACGGGAGCGTCTGTGAACG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		563		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192578	G G	GTATATAT others(23): Show GTATATATACACGTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0090 a0001c0003t0003g0090	1	280	0.0036	30	c.11 others(43): Show c.11418_*11419insTACGTATATATATATATACGTGTATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4701		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192578	G G	GTATATAT others(23): Show GTATATATATACGTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(1): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0055 a0001c0003 a0001c0055	a0001c0003t0003 a0001c0055t0003 a0001c0003t0003 a0001c0055t0003	a0001c0003t0003g0001 a0001c0003t0003g0079 a0001c0055t0003g0138 a0001c0003t0003g0001 a0001c0003t0003g0079 a0001c0055t0003g0138	4	280	0.0143	30	c.11 others(43): Show c.11418_*11419insTACGTATATATATATATACGTATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4701		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(23): Show CGTATATATATATACGTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0056 a0002c0002t0056	a0002c0002t0056g0159 a0002c0002t0056g0159	1	280	0.0036	30	c.11 others(43): Show c.11405_*11406insATATATATATATATACGTATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(23): Show CGTATATATATATATACGTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG02055.hp2 others(4): Show HG00099.hp2 HG01192.hp1 HG02055.hp2 HG02129.hp2 HG02258.hp2 NA18950.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0002 a0002c0002t0018 a0002c0002t0068 others(1): Show a0002c0002t0002 a0002c0002t0018 a0002c0002t0068 a0003c0007t0002	a0002c0002t0002g0069 a0002c0002t0002g0117 a0002c0002t0002g0152 others(4): Show a0002c0002t0002g0069 a0002c0002t0002g0117 a0002c0002t0002g0152 a0002c0002t0018g0011 a0002c0002t0018g0012 a0002c0002t0068g0186 a0003c0007t0002g0065	7	280	0.0250	30	c.11 others(43): Show c.11405_*11406insATATATATATATACGTATATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA21309.hp2 HG03453.hp2 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0000 a0005c0006t0000 a0002c0002t0000 a0005c0006t0000	a0002c0002t0000g0000 a0005c0006t0000g0000 a0002c0002t0000g0000 a0005c0006t0000g0000	2	454	0.0044	30	c.-19 others(41): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227750651	C C	CAATAAAA others(23): Show CAATAAAATAAAATAAAATAAAATAAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02559.hp2 HG03239.hp2 others(1): Show HG02165.hp1 HG02559.hp2 HG03239.hp2 NA18945.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0000 a0003c0003t0000 a0005c0005t0000 a0001c0001t0000 a0003c0003t0000 a0005c0005t0000	a0001c0001t0000g0000 a0003c0003t0000g0000 a0005c0005t0000g0000 a0001c0001t0000g0000 a0003c0003t0000g0000 a0005c0005t0000g0000	4	457	0.0088	30	c.44 others(41): Show c.4431_*4432insAATAAAATAAAATAAAATAAAATAAAATAA	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		4432		chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0087 a0001c0001t0117g0087	1	418	0.0024	30	c.27 others(41): Show c.2732_*2733insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2732		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	376	0.0027	30	c.-32 others(41): Show c.-3205_-3204insATATATATATATATATATATATATATATTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	334	0.0030	30	c.61- others(47): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTG TT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp1 HG03669.hp1 HG01175.hp2 HG03239.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0119 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0119	3	189	0.0159	30	c.675 others(47): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327259	A A	ATAAAATT others(23): Show ATAAAATTATAATTTATAATTTTATAGAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	189	0.0053	30	c.106 others(49): Show c.1069-3237_1069-3208dupTATAATTTTATAGAAATTAAAATTAT AATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327418	A A	ATAGAAAT others(23): Show ATAGAAATTAAAATTATAATTTATAATTTTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0160 a0002c0003t0001g0160	1	189	0.0053	30	c.106 others(49): Show c.1069-3117_1069-3116insATTAAAATTATAATTTATAATTTTGT AGAA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327466	A A	ATTATAAT others(23): Show ATTATAATTTTGTAGAAATTAAAATTATAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19068.hp1 HG01167.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0120 a0002c0003t0001g0147 a0001c0001t0002g0120 a0002c0003t0001g0147	2	189	0.0106	30	c.106 others(49): Show c.1069-3013_1069-2984dupTTATAATTTTGTAGAAATTAAAATTA TAAT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2L1_chr22_21637302_21649299	21639255	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	30	c.-30 others(41): Show c.-3082_-3081insAAAACAAAACAAAACAAAACAAAACAAAAC	SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding		3046		chr22	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG02145.hp1 others(3): Show HG00408.hp1 HG00609.hp2 HG02145.hp1 HG03225.hp2 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129	6	398	0.0151	30	c.-19 others(41): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG03225.hp1 others(1): Show HG02922.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0002 a0001c0002t0001g0256 a0001c0002t0001g0257	4	402	0.0100	30	c.26 others(41): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHA_chr5_213320_262082	257672	A A	ACCCCCTG others(23): Show ACCCCCTGCCAGAGCATTACTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	266	0.0038	30	c.12 others(41): Show c.1252_*1253insCCCCCTGCCAGAGCATTACTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		591		chr5	TogoVar
SDHA_chr5_213320_262082	258218	A A	ACTGTGAG others(23): Show ACTGTGAGTTCCTTCTCCTCTCAGAGCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	30	c.17 others(41): Show c.1798_*1799insCTGTGAGTTCCTTCTCCTCTCAGAGCCTTG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1137		chr5	TogoVar
SDHA_chr5_213320_262082	260785	G G	GCATTACT others(23): Show GCATTACTGTGTGAGCTCCGCCTCCCGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02165.hp1 NA18965.hp1 HG01943.hp1 HG02165.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0151 a0001c0002t0001g0176 a0001c0002t0001g0022 a0001c0002t0001g0151 a0001c0002t0001g0176	3	266	0.0113	30	c.43 others(41): Show c.4365_*4366insCATTACTGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3704		chr5	TogoVar
SDHA_chr5_213320_262082	261646	A A	AGAGCATT others(23): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01943.hp1 HG02074.hp1 others(6): Show HG01109.hp2 HG01943.hp1 HG02074.hp1 HG02165.hp1 HG02293.hp2 HG03710.hp1 NA18612.hp2 NA18990.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0088 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0088 a0001c0002t0001g0151 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0007t0001g0155 a0001c0007t0001g0164	9	266	0.0338	30	c.52 others(41): Show c.5226_*5227insGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4565		chr5	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18945.hp1 NA18945.hp2 HG04184.hp2 NA18945.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0144	3	330	0.0091	30	c.180 others(45): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0102 a0001c0004t0005g0102	1	116	0.0086	30	c.298 others(49): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582030	T T	TCTGTCTC others(23): Show TCTGTCTCAGGTAGGTCTCCCTCAGGTAGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(8): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG02145.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03491.hp2 HG03688.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0021 a0023 a0031	a0001c0002 a0001c0008 a0001c0060 others(8): Show a0001c0002 a0001c0008 a0001c0060 a0002c0030 a0002c0041 a0002c0043 a0002c0066 a0003c0047 a0021c0045 a0023c0035 a0031c0074	a0001c0002t0040 a0001c0008t0007 a0001c0060t0041 others(8): Show a0001c0002t0040 a0001c0008t0007 a0001c0060t0041 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0002c0066t0023 a0003c0047t0038 a0021c0045t0015 a0023c0035t0005 a0031c0074t0042	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0060t0041g0080 others(8): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0060t0041g0080 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0066t0023g0089 a0003c0047t0038g0082 a0021c0045t0015g0046 a0023c0035t0005g0058 a0031c0074t0042g0081	11	116	0.0948	30	c.299 others(49): Show c.299-36912_299-36883dupCCCTCAGGTAGGCCTGTCTCAGGTAG GTCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723681	T T	TACGTGTA others(23): Show TACGTGTATATACACGTACATATACATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03688.hp2 HG02809.hp2 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0003c0047 a0001c0011 a0003c0047	a0001c0011t0008 a0003c0047t0038 a0001c0011t0008 a0003c0047t0038	a0001c0011t0008g0028 a0003c0047t0038g0082 a0001c0011t0008g0028 a0003c0047t0038g0082	2	116	0.0172	30	c.713 others(49): Show c.713+81655_713+81684dupATATACATATACACGTGTATATACAC GTAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723820	A A	ATATACAT others(23): Show ATATACATATACACGTGTATATACACGTACT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	30	c.713 others(49): Show c.713+81744_713+81745insTTATACATATACACGTGTATATACAC GTAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723857	T T	TATACACG others(23): Show TATACACGTGTATATACACGTACATATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG01516.hp2 HG02602.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0001 a0001c0005 a0003c0001	a0001c0005t0001 a0003c0001t0059 a0001c0005t0001 a0003c0001t0059	a0001c0005t0001g0023 a0003c0001t0059g0024 a0001c0005t0001g0023 a0003c0001t0059g0024	2	116	0.0172	30	c.713 others(49): Show c.713+81779_713+81780insCACATACACGTGTATATACACGTACA TATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074916	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0030 a0030	a0030c0073 a0030c0073	a0030c0073t0001 a0030c0073t0001	a0030c0073t0001g0015 a0030c0073t0001g0015	1	116	0.0086	30	c.301 others(49): Show c.3011-2081_3011-2080insATATATATATATATTTTTTTTTTTTT TTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4128877	G G	GCCCTGGA others(23): Show GCCCTGGAGGAGAGCAGCTTGGGGTGGGGTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp1 HG02602.hp1 others(5): Show HG01167.hp2 HG02451.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03098.hp2 NA20129.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0017	a0001c0005 a0001c0037 a0001c0038 others(4): Show a0001c0005 a0001c0037 a0001c0038 a0001c0039 a0002c0043 a0011c0021 a0017c0024	a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 others(5): Show a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 a0001c0038t0013 a0001c0039t0050 a0002c0043t0035 a0011c0021t0073 a0017c0024t0061	a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0037t0002g0077 others(5): Show a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0037t0002g0077 a0001c0038t0013g0038 a0001c0039t0050g0022 a0002c0043t0035g0079 a0011c0021t0073g0006 a0017c0024t0061g0013	8	116	0.0690	30	c.394 others(47): Show c.3940-941_3940-912dupCCCCTGGAGGAGAGCAGCTTGGGGTGGG GT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263780	G G	GGGGGAGG others(23): Show GGGGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	116	0.0086	30	c.638 others(49): Show c.6382-1341_6382-1340insGAGGCCGCGTAGACCTCTCCTGAGTG AGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264582	G G	GAGGGAGG others(23): Show GAGGGAGGCCGCGTGGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp1 others(9): Show HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0022 a0024 a0027 a0034	a0001c0011 a0001c0025 a0001c0037 others(8): Show a0001c0011 a0001c0025 a0001c0037 a0001c0060 a0001c0067 a0002c0013 a0005c0080 a0022c0050 a0024c0094 a0027c0068 a0034c0081	a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 others(9): Show a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 a0001c0037t0002 a0001c0060t0041 a0001c0067t0068 a0002c0013t0064 a0005c0080t0014 a0022c0050t0019 a0024c0094t0025 a0027c0068t0014 a0034c0081t0008	a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0088 others(9): Show a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0088 a0001c0037t0002g0077 a0001c0060t0041g0080 a0001c0067t0068g0001 a0002c0013t0064g0026 a0005c0080t0014g0078 a0022c0050t0019g0092 a0024c0094t0025g0049 a0027c0068t0014g0014 a0034c0081t0008g0075	12	116	0.1035	30	c.638 others(47): Show c.6382-542_6382-541insAGGGAGGCCGCGTGGACCTCTCCTGAGT GA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02083.hp1 NA18948.hp2 HG00280.hp1 HG02083.hp1 NA18948.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0048 a0006c0097 a0001c0001 a0001c0048 a0006c0097	a0001c0001t0032 a0001c0048t0073 a0006c0097t0070 a0001c0001t0032 a0001c0048t0073 a0006c0097t0070	a0001c0001t0032g0001 a0001c0048t0073g0108 a0006c0097t0070g0048 a0001c0001t0032g0001 a0001c0048t0073g0108 a0006c0097t0070g0048	3	204	0.0147	30	c.559 others(49): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0145 a0001c0005t0048g0145	1	204	0.0049	30	c.559 others(49): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03516.hp2 NA18961.hp2 HG02258.hp2 HG03516.hp2 NA18961.hp2	a0001 a0008 a0001 a0008	a0001c0024 a0001c0053 a0008c0044 a0001c0024 a0001c0053 a0008c0044	a0001c0024t0006 a0001c0053t0022 a0008c0044t0023 a0001c0024t0006 a0001c0053t0022 a0008c0044t0023	a0001c0024t0006g0151 a0001c0053t0022g0039 a0008c0044t0023g0068 a0001c0024t0006g0151 a0001c0053t0022g0039 a0008c0044t0023g0068	3	204	0.0147	30	c.559 others(49): Show c.5594-2538_5594-2537insAAAAAAAAAAAATATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19030.hp2 HG02071.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0054 a0001c0002 a0004c0054	a0001c0002t0004 a0004c0054t0022 a0001c0002t0004 a0004c0054t0022	a0001c0002t0004g0038 a0004c0054t0022g0084 a0001c0002t0004g0038 a0004c0054t0022g0084	2	204	0.0098	30	c.559 others(49): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAATATATATATATA TATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73411957	T T	TATATATA others(23): Show TATATATATATATACGTATATATATATCTAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18948.hp2 NA18990.hp2 HG00558.hp2 NA18948.hp2 NA18990.hp2	a0006 a0009 a0006 a0009	a0006c0056 a0006c0097 a0009c0113 a0006c0056 a0006c0097 a0009c0113	a0006c0056t0002 a0006c0097t0070 a0009c0113t0064 a0006c0056t0002 a0006c0097t0070 a0009c0113t0064	a0006c0056t0002g0162 a0006c0097t0070g0048 a0009c0113t0064g0023 a0006c0056t0002g0162 a0006c0097t0070g0048 a0009c0113t0064g0023	3	204	0.0147	30	c.248 others(49): Show c.2484+2686_2484+2687insGTAGATATATATATACGTATATATAT ATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02145.hp1 others(2): Show HG02027.hp2 HG02071.hp1 HG02145.hp1 NA19043.hp1 NA19087.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0001c0001t0009 a0005c0014t0001 a0001c0001t0001 a0001c0001t0009 a0005c0014t0001	a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0009g0205 a0005c0014t0001g0132	5	356	0.0140	30	c.589 others(47): Show c.589+1573_589+1574insATATATATATATATATATATATATATAT AT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02809.hp2 NA18985.hp2 HG02135.hp1 HG02809.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0076 a0001c0001t0002g0121 a0001c0001t0004g0074 a0001c0001t0002g0076 a0001c0001t0002g0121 a0001c0001t0004g0074	3	340	0.0088	30	c.183 others(47): Show c.183-2679_183-2678insTATATATATATATATATATATATATATA TA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0108 a0001c0002t0004g0109	2	222	0.0090	30	c.116 others(49): Show c.1165+1223_1165+1224insCACACACACACACACACACACACACA CATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar

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