Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHCBP1L_chr1_182894865_182958166	182898672	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02615.hp1 NA18991.hp2 HG02132.hp1 HG02615.hp1 NA18991.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0251 a0002c0002t0001g0025 a0004c0004t0001g0120 a0001c0001t0001g0251 a0002c0002t0001g0025 a0004c0004t0001g0120	3	302	0.0099	-17	c.12 others(28): Show c.1294_*1310delTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(10): Show GAAAGGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02572.hp1 others(1): Show HG01192.hp2 HG02451.hp2 HG02572.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0285 a0002c0002t0001g0042	4	302	0.0133	-17	c.118 others(36): Show c.1182+4934_1182+4950delTCTTTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46618560	ACTTCAAA others(10): Show ACTTCAAAACAATAAGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp1 HG02155.hp2 others(19): Show HG01496.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18944.hp1 NA18952.hp1 NA18968.hp1 NA18974.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0138	22	184	0.1196	-17	c.104 others(32): Show c.104-205_104-189delCGCTTATTGTTTTGAAG	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	1/12			chr16	TogoVar
SHD_chr19_4274266_4295722	4286214	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0325 a0003c0004t0009g0325	1	462	0.0022	-17	c.716 others(34): Show c.716+1330_716+1346delTCTTTCTTTCTTTCTTT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHISA7_chr19_55423740_55448300	55435181	TTGTGTGG others(10): Show TTGTGTGGTGTGTATGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18943.hp2 NA18969.hp2 others(3): Show HG00609.hp2 NA18943.hp2 NA18969.hp2 NA18973.hp2 NA19007.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0065 a0003c0008t0001g0046 a0001c0001t0001g0011 a0001c0001t0001g0065 a0003c0008t0001g0046	6	372	0.0161	-17	c.977 others(34): Show c.977-1402_977-1386delCACATACACACCACACA	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55435278	CGTGTGTG others(10): Show CGTGTGTGTATATGTGGT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	372	0.0027	-17	c.977 others(34): Show c.977-1499_977-1483delACCACATATACACACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12968189	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	214	0.0047	-17	c.691 others(36): Show c.691+51395_691+51411delAAAAAAAAAAAAAAAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019884	CTTCTTTC others(10): Show CTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	214	0.0047	-17	c.691 others(38): Show c.691+103071_691+103087delTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHLD1_chr20_5745401_5869395	5764136	AAAAATAT others(10): Show AAAAATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18994.hp1 NA18980.hp2 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0001g0145 a0002c0003t0001g0147	2	328	0.0061	-17	c.-4- others(32): Show c.-4-8724_-4-8708delAAATATATATATATTTA	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5864676	AATTACAT others(10): Show AATTACATCACCTGGCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	328	0.0031	-17	c.12 others(28): Show c.1214_*1230delATTACATCACCTGGCAC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding		282		chr20	TogoVar
SHMT1_chr17_18322873_18368550	18355050	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03041.hp2 HG01070.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	220	0.0091	-17	c.96+ others(30): Show c.96+819_96+835delTTTTTTTTTTTTTTTTT	SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	2/11			chr17	TogoVar
SHOC2_chr10_110914604_111018665	110940910	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02300.hp1 NA18940.hp1 others(6): Show HG00597.hp2 HG02300.hp1 NA18940.hp1 NA18949.hp1 NA18999.hp2 NA19006.hp1 NA19064.hp2 NA19077.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0164 a0001c0001t0002g0202 others(5): Show a0001c0001t0002g0022 a0001c0001t0002g0164 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0216 a0001c0001t0002g0222	9	386	0.0233	-17	c.-23 others(38): Show c.-235+21275_-235+21291delTTTTTTTTTTTTTTTTT	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHROOM2_chrX_9781429_9954443	9830584	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	256	0.0039	-17	c.166 others(36): Show c.166-43050_166-43034delTTTTTTTTTTTTTTTTT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9927356	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG02976.hp1 others(3): Show HG02615.hp2 HG02922.hp1 HG02976.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp2	a0002 a0004 a0039 a0002 a0004 a0039	a0002c0010 a0002c0016 a0004c0015 others(2): Show a0002c0010 a0002c0016 a0004c0015 a0004c0067 a0039c0065	a0002c0010t0005 a0002c0016t0008 a0004c0015t0002 others(3): Show a0002c0010t0005 a0002c0016t0008 a0004c0015t0002 a0004c0015t0012 a0004c0067t0011 a0039c0065t0004	a0002c0010t0005g0011 a0002c0016t0008g0125 a0004c0015t0002g0121 others(3): Show a0002c0010t0005g0011 a0002c0016t0008g0125 a0004c0015t0002g0121 a0004c0015t0012g0173 a0004c0067t0011g0230 a0039c0065t0004g0122	6	256	0.0234	-17	c.289 others(36): Show c.2892-4802_2892-4786delAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9939886	AAGCAATT others(10): Show AAGCAATTCTCCTACCTC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01993.hp2 others(11): Show HG00558.hp1 HG00642.hp1 HG01993.hp2 HG02155.hp1 HG02523.hp1 NA18952.hp1 NA18955.hp1 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19089.hp1	a0003 a0007 a0020 others(1): Show a0003 a0007 a0020 a0034	a0003c0004 a0003c0006 a0003c0009 others(3): Show a0003c0004 a0003c0006 a0003c0009 a0007c0014 a0020c0060 a0034c0066	a0003c0004t0003 a0003c0006t0003 a0003c0009t0003 others(4): Show a0003c0004t0003 a0003c0006t0003 a0003c0009t0003 a0003c0009t0031 a0007c0014t0003 a0020c0060t0003 a0034c0066t0003	a0003c0004t0003g0088 a0003c0004t0003g0099 a0003c0004t0003g0169 others(11): Show a0003c0004t0003g0088 a0003c0004t0003g0099 a0003c0004t0003g0169 a0003c0006t0003g0033 a0003c0006t0003g0039 a0003c0006t0003g0070 a0003c0006t0003g0150 a0003c0009t0003g0080 a0003c0009t0031g0036 a0007c0014t0003g0060 a0007c0014t0003g0186 a0007c0014t0003g0189 a0020c0060t0003g0019 a0034c0066t0003g0103	14	256	0.0547	-17	c.431 others(34): Show c.4311+524_4311+540delAATTCTCCTACCTCAGC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00741.hp1 others(21): Show HG00544.hp2 HG00609.hp1 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02071.hp1 HG02273.hp1 HG02886.hp2 HG02896.hp1 HG03486.hp2 HG03492.hp1 NA18941.hp2 NA18948.hp1 NA18951.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18989.hp2 NA18997.hp1 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0001c0001t0037 a0001c0001t0053 a0001c0001t0056 a0001c0001t0062 a0001c0001t0067	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0078 others(21): Show a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0004g0134 a0001c0001t0011g0023 a0001c0001t0011g0124 a0001c0001t0018g0115 a0001c0001t0018g0117 a0001c0001t0037g0087 a0001c0001t0053g0102 a0001c0001t0056g0046 a0001c0001t0062g0159 a0001c0001t0067g0032	24	292	0.0822	-17	c.173 others(34): Show c.173-2822_173-2806delAAAAAAAAAAAAAAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	401330	CACCCGGC others(10): Show CACCCGGCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	242	0.0041	-17	c.45 others(28): Show c.4549_*4565delTGTGAGCGGGGCCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4385		chr11	TogoVar
SIGIRR_chr11_400716_419999	401724	ACCCCGCT others(10): Show ACCCCGCTCACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02647.hp1 NA18612.hp1 HG02148.hp1 HG02647.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0165	3	242	0.0124	-17	c.41 others(28): Show c.4155_*4171delGTCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3991		chr11	TogoVar
SIGIRR_chr11_400716_419999	402197	ACCCCCGG others(10): Show ACCCCCGGCTCCACTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	242	0.0041	-17	c.36 others(28): Show c.3682_*3698delGTCAGTGGAGCCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3518		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51487696	ATTCAAGT others(10): Show ATTCAAGTGCAGTTCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01169.hp1 others(18): Show HG00099.hp2 HG01081.hp1 HG01169.hp1 HG01884.hp2 HG02055.hp2 HG02071.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03669.hp1 NA18906.hp2 NA18944.hp2 NA19002.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0003c0011 a0003c0027 a0011c0021 a0012c0022	a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0002c0001t0001 a0003c0011t0002 a0003c0027t0001 a0011c0021t0002 a0012c0022t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0005g0032 others(12): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0080 a0001c0003t0003g0074 a0002c0001t0001g0041 a0003c0011t0002g0046 a0003c0011t0002g0047 a0003c0027t0001g0171 a0011c0021t0002g0118 a0012c0022t0001g0114 a0012c0022t0001g0116	21	432	0.0486	-17	c.39 others(28): Show c.3928_*3944delCTTGAACTGCACTTGAA	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding		3530		chr19	TogoVar
SIK2_chr11_111597449_111735855	111692350	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0099 a0001c0001t0015g0099	1	198	0.0051	-17	c.478 others(34): Show c.478+4210_478+4226delAAAAAAAAAAAAAAAAA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	117023593	CAAACAAA others(10): Show CAAACAAACAAACAAACA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01074.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0138 a0001c0001t0004g0124 a0001c0001t0004g0138	2	366	0.0055	-17	c.274 others(36): Show c.274-66546_274-66530delTGTTTGTTTGTTTGTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	138949812	AAAAAGAA others(10): Show AAAAAGAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	200	0.0050	-17	c.102 others(36): Show c.1029+1342_1029+1358delCTTTTCTTTTTTCTTTT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	9/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100412620	GAAGGAAA others(10): Show GAAGGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA21309.hp1 HG02165.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0063 a0001c0001t0005 a0001c0001t0063	a0001c0001t0005g0110 a0001c0001t0063g0075 a0001c0001t0005g0110 a0001c0001t0063g0075	2	320	0.0063	-17	c.116 others(36): Show c.1167+8153_1167+8169delTCTTTCTTTCTTTCCTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36736835	CTTTCTCT others(10): Show CTTTCTCTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	410	0.0024	-17	c.851 others(34): Show c.851-4880_851-4864delTTCTCTTTCTTTTCTTT	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71419480	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	174	0.0058	-17	c.-46 others(38): Show c.-464-93251_-464-93235delTTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590035	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	174	0.0058	-17	c.149 others(34): Show c.1498+667_1498+683delAAAAAAAAATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71627131	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(38): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01928.hp2 HG01943.hp1 HG02056.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18986.hp2 NA18990.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0004 a0005c0010 others(2): Show a0001c0001 a0001c0004 a0005c0010 a0006c0013 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0005c0010t0002 a0006c0013t0002 a0007c0012t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 others(38): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0169 a0001c0001t0004g0168 a0001c0004t0002g0049 a0001c0004t0002g0050 a0001c0004t0002g0051 a0005c0010t0002g0164 a0006c0013t0002g0045 a0007c0012t0002g0094	41	174	0.2356	-17	c.181 others(36): Show c.1818+2922_1818+2938delTTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71708015	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	174	0.0058	-17	c.376 others(36): Show c.3766-1193_3766-1177delGTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232455607	TGAGGCGG others(10): Show TGAGGCGGAGCTTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(130): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0013 a0014 a0017 a0020 a0024	a0001c0001 a0001c0002 a0001c0005 others(36): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0012 a0002c0023 a0002c0024 a0002c0031 a0002c0033 a0002c0036 a0002c0038 a0002c0049 a0002c0053 a0002c0060 a0003c0004 a0003c0013 a0003c0015 a0003c0065 a0004c0010 a0004c0019 a0004c0021 a0004c0032 a0005c0009 a0005c0043 a0005c0047 a0005c0058 a0005c0070 a0007c0037 a0009c0025 a0009c0046 a0009c0068 a0010c0022 a0013c0064 a0014c0048 a0017c0054 a0020c0066 a0024c0062	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(65): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0005t0022 a0002c0006t0001 a0002c0006t0003 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0006t0019 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0008t0001 a0002c0008t0003 a0002c0008t0004 a0002c0008t0006 a0002c0008t0026 a0002c0012t0001 a0002c0012t0002 a0002c0012t0003 a0002c0023t0002 a0002c0023t0008 a0002c0024t0001 a0002c0024t0005 a0002c0031t0001 a0002c0031t0017 a0002c0033t0011 a0002c0036t0001 a0002c0036t0003 a0002c0038t0001 a0002c0049t0001 a0002c0053t0008 a0002c0060t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0013t0001 a0003c0013t0002 a0003c0015t0001 a0003c0065t0001 a0004c0010t0001 a0004c0010t0002 a0004c0019t0001 a0004c0019t0003 a0004c0021t0001 a0004c0032t0001 a0004c0032t0002 a0005c0009t0001 a0005c0009t0002 a0005c0009t0004 a0005c0009t0005 a0005c0009t0008 a0005c0043t0007 a0005c0047t0003 a0005c0058t0002 a0005c0070t0003 a0007c0037t0003 a0009c0025t0003 a0009c0046t0001 a0009c0068t0003 a0010c0022t0002 a0013c0064t0003 a0014c0048t0008 a0017c0054t0024 a0020c0066t0003 a0024c0062t0001	a0001c0001t0002g0016 a0001c0001t0005g0031 a0001c0002t0001g0132 others(130): Show a0001c0001t0002g0016 a0001c0001t0005g0031 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0001g0185 a0001c0002t0001g0198 a0001c0002t0003g0248 a0001c0005t0022g0288 a0002c0006t0001g0109 a0002c0006t0001g0202 a0002c0006t0001g0205 a0002c0006t0001g0220 a0002c0006t0001g0221 a0002c0006t0003g0281 a0002c0006t0004g0097 a0002c0006t0004g0162 a0002c0006t0007g0004 a0002c0006t0008g0267 a0002c0006t0019g0108 a0002c0007t0001g0112 a0002c0007t0001g0129 a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0007t0001g0192 a0002c0007t0001g0200 a0002c0007t0001g0216 a0002c0007t0002g0028 a0002c0007t0003g0240 a0002c0007t0003g0242 a0002c0007t0003g0270 a0002c0008t0001g0080 a0002c0008t0001g0184 a0002c0008t0003g0278 a0002c0008t0004g0088 a0002c0008t0004g0090 a0002c0008t0004g0206 a0002c0008t0004g0226 a0002c0008t0006g0009 a0002c0008t0006g0014 a0002c0008t0026g0292 a0002c0012t0001g0125 a0002c0012t0001g0149 a0002c0012t0001g0171 a0002c0012t0002g0015 a0002c0012t0002g0027 a0002c0012t0003g0284 a0002c0023t0002g0020 a0002c0023t0002g0071 a0002c0023t0008g0289 a0002c0024t0001g0100 a0002c0024t0001g0145 a0002c0024t0005g0051 a0002c0031t0001g0078 a0002c0031t0017g0099 a0002c0033t0011g0007 a0002c0033t0011g0010 a0002c0036t0001g0150 a0002c0036t0003g0245 a0002c0038t0001g0098 a0002c0049t0001g0081 a0002c0053t0008g0272 a0002c0060t0003g0275 a0003c0004t0001g0114 a0003c0004t0001g0120 a0003c0004t0001g0131 a0003c0004t0001g0146 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0187 a0003c0004t0001g0199 a0003c0004t0001g0201 a0003c0004t0002g0034 a0003c0004t0002g0076 a0003c0004t0003g0246 a0003c0004t0003g0253 a0003c0004t0003g0254 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0271 a0003c0013t0001g0130 a0003c0013t0001g0190 a0003c0013t0002g0026 a0003c0013t0002g0037 a0003c0013t0002g0057 a0003c0013t0002g0058 a0003c0015t0001g0110 a0003c0015t0001g0142 a0003c0015t0001g0147 a0003c0015t0001g0222 a0003c0015t0001g0225 a0003c0065t0001g0203 a0004c0010t0001g0121 a0004c0010t0001g0122 a0004c0010t0001g0123 a0004c0010t0001g0124 a0004c0010t0001g0127 a0004c0010t0001g0128 a0004c0010t0002g0030 a0004c0019t0001g0224 a0004c0019t0003g0255 a0004c0021t0001g0113 a0004c0021t0001g0126 a0004c0021t0001g0189 a0004c0032t0001g0158 a0004c0032t0002g0056 a0005c0009t0001g0160 a0005c0009t0001g0161 a0005c0009t0002g0029 a0005c0009t0002g0040 a0005c0009t0004g0207 a0005c0009t0005g0017 a0005c0009t0005g0042 a0005c0009t0005g0066 a0005c0009t0008g0283 a0005c0043t0007g0001 a0005c0047t0003g0249 a0005c0058t0002g0039 a0005c0070t0003g0243 a0007c0037t0003g0256 a0009c0025t0003g0247 a0009c0025t0003g0250 a0009c0025t0003g0251 a0009c0046t0001g0151 a0009c0068t0003g0239 a0010c0022t0002g0053 a0010c0022t0002g0054 a0010c0022t0002g0055 a0013c0064t0003g0263 a0014c0048t0008g0257 a0017c0054t0024g0269 a0020c0066t0003g0237 a0024c0062t0001g0217	133	292	0.4555	-17	c.309 others(36): Show c.3095+5263_3095+5279delGCTGCAAGCTCCGCCTC	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232518975	CACAAAAG others(10): Show CACAAAAGTTTCATTTGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19081.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0014 a0015 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0027 a0001c0030 a0001c0039 a0001c0045 a0001c0050 a0002c0006 a0002c0007 a0002c0008 a0002c0012 a0002c0023 a0002c0031 a0002c0038 a0002c0049 a0002c0053 a0003c0015 a0004c0010 a0004c0021 a0005c0009 a0005c0043 a0005c0047 a0006c0011 a0006c0028 a0007c0020 a0007c0029 a0009c0046 a0011c0042 a0011c0051 a0014c0048 a0015c0044 a0018c0041 a0019c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0005t0001 a0001c0005t0003 a0001c0027t0002 a0001c0030t0001 a0001c0039t0001 a0001c0045t0002 a0001c0050t0004 a0002c0006t0001 a0002c0006t0003 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0006t0019 a0002c0007t0001 a0002c0008t0004 a0002c0008t0006 a0002c0012t0001 a0002c0012t0002 a0002c0012t0003 a0002c0023t0008 a0002c0031t0001 a0002c0031t0017 a0002c0038t0001 a0002c0049t0001 a0002c0053t0008 a0003c0015t0001 a0004c0010t0001 a0004c0010t0002 a0004c0021t0001 a0005c0009t0001 a0005c0009t0002 a0005c0009t0004 a0005c0009t0005 a0005c0009t0008 a0005c0043t0007 a0005c0047t0003 a0006c0011t0001 a0006c0011t0002 a0006c0011t0003 a0006c0028t0001 a0007c0020t0002 a0007c0020t0003 a0007c0029t0001 a0007c0029t0002 a0009c0046t0001 a0011c0042t0004 a0011c0051t0005 a0014c0048t0008 a0015c0044t0001 a0018c0041t0005 a0019c0040t0002	a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0101 others(145): Show a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0004g0096 a0001c0001t0004g0209 a0001c0001t0005g0031 a0001c0001t0006g0008 a0001c0001t0010g0285 a0001c0001t0020g0228 a0001c0001t0023g0280 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0001g0164 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0219 a0001c0002t0002g0044 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0003g0248 a0001c0003t0001g0137 a0001c0003t0006g0003 a0001c0005t0001g0167 a0001c0005t0003g0287 a0001c0027t0002g0018 a0001c0027t0002g0050 a0001c0030t0001g0102 a0001c0030t0001g0182 a0001c0039t0001g0211 a0001c0045t0002g0048 a0001c0050t0004g0213 a0002c0006t0001g0109 a0002c0006t0001g0202 a0002c0006t0001g0205 a0002c0006t0001g0220 a0002c0006t0001g0221 a0002c0006t0003g0281 a0002c0006t0004g0097 a0002c0006t0004g0162 a0002c0006t0007g0004 a0002c0006t0008g0267 a0002c0006t0019g0108 a0002c0007t0001g0192 a0002c0008t0004g0088 a0002c0008t0006g0009 a0002c0008t0006g0014 a0002c0012t0001g0125 a0002c0012t0001g0149 a0002c0012t0001g0171 a0002c0012t0002g0015 a0002c0012t0002g0027 a0002c0012t0003g0284 a0002c0023t0008g0289 a0002c0031t0001g0078 a0002c0031t0017g0099 a0002c0038t0001g0098 a0002c0049t0001g0081 a0002c0053t0008g0272 a0003c0015t0001g0110 a0003c0015t0001g0142 a0003c0015t0001g0147 a0003c0015t0001g0222 a0003c0015t0001g0225 a0004c0010t0001g0121 a0004c0010t0001g0122 a0004c0010t0001g0123 a0004c0010t0001g0124 a0004c0010t0001g0127 a0004c0010t0001g0128 a0004c0010t0001g0204 a0004c0010t0002g0030 a0004c0021t0001g0113 a0004c0021t0001g0126 a0004c0021t0001g0189 a0005c0009t0001g0160 a0005c0009t0001g0161 a0005c0009t0002g0029 a0005c0009t0002g0040 a0005c0009t0004g0207 a0005c0009t0005g0017 a0005c0009t0005g0042 a0005c0009t0005g0066 a0005c0009t0008g0283 a0005c0043t0007g0001 a0005c0047t0003g0249 a0006c0011t0001g0092 a0006c0011t0001g0155 a0006c0011t0002g0033 a0006c0011t0002g0059 a0006c0011t0002g0061 a0006c0011t0002g0069 a0006c0011t0003g0232 a0006c0028t0001g0191 a0006c0028t0001g0208 a0007c0020t0002g0023 a0007c0020t0002g0075 a0007c0020t0003g0238 a0007c0029t0001g0139 a0007c0029t0002g0038 a0009c0046t0001g0151 a0011c0042t0004g0214 a0011c0051t0005g0032 a0014c0048t0008g0257 a0015c0044t0001g0141 a0018c0041t0005g0070 a0019c0040t0002g0064	148	292	0.5069	-17	c.-26 others(36): Show c.-269-3384_-269-3368delTCAAATGAAACTTTTGT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIRT3_chr11_210030_241342	223071	TGTGGCTG others(10): Show TGTGGCTGCCCTGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02976.hp2 others(1): Show HG01109.hp2 HG02572.hp1 HG02976.hp2 HG03540.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0004 a0011c0015 a0001c0001 a0004c0004 a0011c0015	a0001c0001t0003 a0004c0004t0003 a0011c0015t0003 a0001c0001t0003 a0004c0004t0003 a0011c0015t0003	a0001c0001t0003g0035 a0004c0004t0003g0223 a0011c0015t0003g0225 a0001c0001t0003g0035 a0004c0004t0003g0223 a0011c0015t0003g0225	4	414	0.0097	-17	c.969 others(33): Show c.969+990_969+1006delGGGCCCAGGGCAGCCAC	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT4_chr12_120297321_120318249	120304823	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	380	0.0026	-17	c.497 others(32): Show c.497+767_497+783delATATATATATATTTTTT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIRT4_chr12_120297321_120318249	120304825	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	380	0.0026	-17	c.497 others(32): Show c.497+769_497+785delATATATATATTTTTTTT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIRT4_chr12_120297321_120318249	120304827	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp1 others(51): Show HG00280.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01943.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18948.hp1 NA18959.hp2 NA18965.hp1 NA18979.hp1 NA18987.hp1 NA18994.hp2 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(33): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0004g0006 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0008t0001g0186	54	380	0.1421	-17	c.497 others(32): Show c.497+771_497+787delATATATATTTTTTTTTT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIX3_chr2_44936702_44951071	44945310	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0001 a0001c0001t0057g0001	1	448	0.0022	-17	c.56 others(26): Show c.560_*576delAAAAAAAAAAAAAAAAA	SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding	2/2	560	INFO_REALIGN_3_PRIME	chr2	TogoVar
SKA2_chr17_59104857_59160186	59128510	CAGCTACT others(10): Show CAGCTACTCAGGAAGTTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	294	0.0034	-17	c.120 others(34): Show c.120+2754_120+2770delCAACTTCCTGAGTAGCT	SKA2	ENSG00000182628.13	transcript	ENST00000330137.12	protein_coding	2/3			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48405433	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18941.hp2 NA18945.hp2 others(7): Show HG02074.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18959.hp2 NA18973.hp2 NA18989.hp2 NA19070.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 others(7): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0276 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0279 a0002c0002t0001g0280	10	292	0.0343	-17	c.47- others(32): Show c.47-8665_47-8649delAGAAAGAAAGAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2304162	AGGGGGGC others(10): Show AGGGGGGCTGGTCGCCGG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0319 a0001c0001t0042g0319	1	330	0.0030	-17	c.147 others(32): Show c.1474+64_1474+80delGGGCTGGTCGCCGGGGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKP1_chr5_134143935_134181950	134180614	TTCTGAGA others(10): Show TTCTGAGAGAGGGGAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	360	0.0028	-17	c.-37 others(28): Show c.-3777_-3761delTTCTCCCCTCTCTCAGA	SKP1	ENSG00000113558.19	transcript	ENST00000353411.11	protein_coding		3665		chr5	TogoVar
SLA2_chr20_36607318_36651196	36637624	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	360	0.0028	-17	c.92- others(32): Show c.92-3052_92-3036delAAAAAAAAAAAAAAAAA	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	2/7			chr20	TogoVar
SLAIN2_chr4_48336529_48431201	48418138	CCTTCTTT others(10): Show CCTTCTTTCTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG03139.hp1 others(2): Show HG01243.hp2 HG02451.hp1 HG03139.hp1 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0004t0002g0236 others(2): Show a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0237 a0001c0004t0002g0238	5	348	0.0144	-17	c.136 others(36): Show c.1361-1984_1361-1968delTCTTTCTCCTTCCTTCT	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLAMF1_chr1_160603106_160652044	160616975	GTGAAATA others(10): Show GTGAAATACTGTCTCTAC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0129 a0003c0003t0001g0129	1	420	0.0024	-17	c.864 others(34): Show c.864+2784_864+2800delGTAGAGACAGTATTTCA	SLAMF1	ENSG00000117090.16	transcript	ENST00000302035.11	protein_coding	5/6			chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484222	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19074.hp1 NA19006.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0202 a0001c0001t0001g0010 a0001c0001t0001g0202	2	394	0.0051	-17	c.24 others(28): Show c.2468_*2484delTATATATATATATATAT	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		813		chr1	TogoVar
SLA_chr8_133031728_133107602	133042678	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02559.hp2 others(7): Show HG01884.hp2 HG02109.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0106 a0001c0001t0001g0211 a0001c0001t0001g0282 others(7): Show a0001c0001t0001g0106 a0001c0001t0001g0211 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0004g0096 a0001c0001t0021g0105	10	344	0.0291	-17	c.484 others(34): Show c.484+2289_484+2305delAAAAAAAAAAAAAAAAA	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	7/8			chr8	TogoVar
SLC12A2_chr5_128078766_128194677	128150585	TCTAACAT others(10): Show TCTAACATCAGGTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	354	0.0028	-17	c.210 others(34): Show c.2107+490_2107+506delAACATCAGGTTTTTACT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1112477	ACCCCCTC others(10): Show ACCCCCTCCTGCTGGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02451.hp1 HG02486.hp2 others(7): Show HG01993.hp2 HG02451.hp1 HG02486.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0017 a0002c0038	a0001c0001t0001 a0001c0003t0003 a0001c0003t0017 others(5): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 a0001c0009t0006 a0001c0010t0005 a0001c0017t0004 a0002c0038t0014	a0001c0001t0001g0042 a0001c0003t0003g0019 a0001c0003t0017g0018 others(7): Show a0001c0001t0001g0042 a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 a0001c0009t0006g0064 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026 a0001c0017t0004g0020 a0002c0038t0014g0118	10	118	0.0848	-17	c.-50 others(26): Show c.-503_-487delGGCCCAGCAGGAGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		415		chr5	TogoVar
SLC12A8_chr3_125077644_125217748	125148492	AGTGGGGA others(10): Show AGTGGGGAGAAGAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00733.hp1 others(91): Show HG00609.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18979.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0008c0010 a0009c0007 a0010c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0002c0002t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0009 a0006c0006t0002 a0006c0006t0004 a0008c0010t0002 a0008c0010t0003 a0009c0007t0002 a0010c0012t0009	a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0089 others(91): Show a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0002g0189 a0001c0001t0002g0209 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0311 a0001c0001t0002g0319 a0001c0001t0002g0339 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0195 a0001c0001t0003g0202 a0001c0001t0003g0258 a0001c0001t0003g0279 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0004g0062 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0137 a0001c0001t0004g0192 a0001c0001t0004g0217 a0001c0001t0004g0230 a0001c0001t0004g0273 a0001c0001t0004g0302 a0001c0001t0004g0306 a0001c0001t0005g0105 a0001c0001t0005g0143 a0001c0001t0005g0162 a0001c0001t0005g0179 a0001c0001t0006g0023 a0001c0001t0006g0141 a0001c0001t0007g0341 a0001c0001t0008g0266 a0001c0001t0008g0303 a0001c0001t0008g0330 a0001c0001t0008g0331 a0001c0001t0011g0231 a0001c0001t0011g0238 a0001c0001t0013g0198 a0001c0001t0020g0088 a0001c0001t0028g0346 a0001c0001t0029g0361 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0067 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0132 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0194 a0002c0002t0001g0216 a0002c0002t0001g0235 a0002c0002t0001g0288 a0002c0002t0001g0301 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0332 a0003c0003t0002g0096 a0003c0003t0002g0147 a0003c0003t0002g0248 a0003c0003t0002g0250 a0003c0003t0002g0255 a0003c0003t0002g0337 a0003c0003t0002g0338 a0003c0003t0003g0246 a0003c0003t0003g0289 a0003c0003t0003g0342 a0003c0003t0004g0245 a0004c0004t0009g0244 a0006c0006t0002g0127 a0006c0006t0004g0009 a0008c0010t0002g0340 a0008c0010t0003g0249 a0009c0007t0002g0041 a0010c0012t0009g0253 a0010c0012t0009g0254	94	362	0.2597	-17	c.623 others(36): Show c.623-12727_623-12711delCCCACTCTTCTCCCCAC	SLC12A8	ENSG00000221955.11	transcript	ENST00000469902.6	protein_coding	5/13			chr3	TogoVar
SLC13A1_chr7_123108531_123204969	123131738	AGCATGAA others(10): Show AGCATGAATCTGTGCAGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02630.hp1 others(7): Show HG02109.hp1 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03516.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 others(2): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0004c0004t0013 a0004c0004t0027	a0001c0001t0009g0045 a0001c0001t0009g0163 a0001c0001t0009g0315 others(7): Show a0001c0001t0009g0045 a0001c0001t0009g0163 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0013g0044 a0001c0001t0013g0046 a0001c0001t0017g0043 a0001c0001t0017g0193 a0004c0004t0013g0321 a0004c0004t0027g0320	10	350	0.0286	-17	c.933 others(34): Show c.933-2274_933-2258delACTGCACAGATTCATGC	SLC13A1	ENSG00000081800.9	transcript	ENST00000194130.7	protein_coding	8/14			chr7	TogoVar
SLC13A2_chr17_28468644_28502781	28470819	AAGCCACC others(10): Show AAGCCACCTTTGTGACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02818.hp1 HG03195.hp1 HG01433.hp1 HG02818.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0220 a0001c0002t0004g0222 a0001c0002t0004g0247 a0001c0002t0001g0220 a0001c0002t0004g0222 a0001c0002t0004g0247	3	388	0.0077	-17	c.-28 others(28): Show c.-2893_-2877delAGCCACCTTTGTGACCC	SLC13A2	ENSG00000007216.16	transcript	ENST00000314669.10	protein_coding		2824		chr17	TogoVar

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Search Results (Total: 9132 hits)