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
SMIM14_chr4_39541336_39643865	39619751	T T	TTATTCTA others(36): Show TTATTCTATATATCAATAAATATAATTATATATATCAATAAATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG02027.hp2 others(14): Show HG00558.hp1 HG00609.hp1 HG02027.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02738.hp1 HG02895.hp2 HG03195.hp2 HG03209.hp2 NA18947.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0203 a0001c0001t0003g0019 a0001c0001t0003g0158 others(14): Show a0001c0001t0001g0203 a0001c0001t0003g0019 a0001c0001t0003g0158 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0222 a0001c0001t0003g0337 a0001c0001t0004g0170 a0001c0001t0004g0229 a0001c0001t0004g0316 a0001c0001t0005g0155 a0001c0001t0012g0209	17	344	0.0494	43	c.-35 others(62): Show c.-35-14572_-35-14571insTATTTATTGATATATATAATTATATT TATTGATATATAGAATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA19086.hp2 NA18960.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	406	0.0049	43	c.16 others(54): Show c.1695_*1696insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	406	0.0025	43	c.16 others(54): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMPD1_chr11_6385474_6399996	6387203	C C	CGACAGAG others(36): Show CGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01975.hp1 HG01928.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0002	2	388	0.0052	43	c.-33 others(54): Show c.-3396_-3395insGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAA	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding		3270		chr11	TogoVar
SMPD4_chr2_130146408_130186602	130151887	G G	GCTTTGGG others(36): Show GCTTTGGGTGATGTGCTCAATGGCTTGGGGTCTGCGGTGAAGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0056 a0001c0001t0013g0056	1	332	0.0030	43	c.62 others(52): Show c.625_*667dupGGCTTCACCGCAGACCCCAAGCCATTGAGCACATCA CCCAAAG	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding	20/20	667		chr2	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATGTGTGT others(36): Show ATGTGTGTGTGTATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0258 a0002c0002t0011g0258	1	390	0.0026	43	c.153 others(62): Show c.1537+5751_1537+5752insAAAAAAAAAAAAATATATATATATAT ATATATACACACACACA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAPIN_chr1_153653703_153666852	153659367	T T	TCCATCCC others(36): Show TCCATCCCATTACCAGCCTGCTTTCCCTCAGAACAAGAGATAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	400	0.0025	43	c.191 others(56): Show c.191-78_191-36dupATCCCATTACCAGCCTGCTTTCCCTCAGAACA AGAGATAAGCC	SNAPIN	ENSG00000143553.11	transcript	ENST00000368685.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	258	0.0039	43	c.590 others(60): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTB2_chr16_69182164_69314052	69199595	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	218	0.0046	43	c.580 others(62): Show c.580+11865_580+11866insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292435	T T	TATATATT others(36): Show TATATATTATATATATATTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	218	0.0046	43	c.134 others(62): Show c.1346-7155_1346-7154insATATATTATATATATATTATATATAT ATATATATATATATATA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6			chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(36): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18992.hp2 HG03041.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0017 a0001c0001t0040g0005 a0001c0001t0002g0017 a0001c0001t0040g0005	2	106	0.0189	43	c.-10 others(64): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1113110	G G	GTGTACTG others(36): Show GTGTACTGAGGTTTAACCCTTACAGTCCTTTGAGGAGGATCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(40): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 NA18968.hp2 NA18969.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19084.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0022	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0008 a0004c0004 a0005c0006 a0006c0010 a0008c0011 a0009c0013 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0005c0006t0001 a0006c0010t0001 a0008c0011t0001 a0009c0013t0001 a0022c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0062 others(40): Show a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0001g0126 a0001c0002t0001g0145 a0001c0002t0001g0186 a0001c0002t0004g0053 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0092 a0002c0003t0001g0129 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0154 a0002c0005t0001g0020 a0002c0005t0001g0131 a0002c0005t0001g0156 a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0184 a0003c0008t0001g0013 a0003c0008t0001g0130 a0003c0008t0001g0190 a0004c0004t0001g0180 a0004c0004t0001g0181 a0005c0006t0001g0019 a0005c0006t0001g0176 a0005c0006t0001g0189 a0006c0010t0001g0043 a0006c0010t0001g0162 a0008c0011t0001g0182 a0009c0013t0001g0042 a0022c0021t0001g0111	43	190	0.2263	43	c.325 others(62): Show c.325+14706_325+14707insGAGGTTTAACCCTTACAGTCCTTTGA GGAGGATCTTTTGTACT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221694	T T	TCTCTCTC others(36): Show TCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0151 a0004c0004t0001g0151	1	190	0.0053	43	c.719 others(62): Show c.719+12464_719+12465insCTCTCTCTGTCTCTCTCTGTCTCTGC CTATCTCTGTCTCTGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX5_chr20_17936600_17973794	17962611	T T	TAAAGACT others(36): Show TAAAGACTTCTTCGGGGGAGGGGGGAGGGATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0149 a0001c0001t0011g0149	1	394	0.0025	43	c.52- others(58): Show c.52-5575_52-5574insTTTTTTTTTTTTTATCCCTCCCCCCTCCCC CGAAGAAGTCTTT	SNX5	ENSG00000089006.17	transcript	ENST00000377759.9	protein_coding	1/12			chr20	TogoVar
SNX6_chr14_34556093_34635148	34557557	T T	TTCTTCTT others(36): Show TTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	322	0.0031	43	c.55 others(54): Show c.5564_*5565insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGA AGAAGAAGA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3535		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7561511	T T	TCCATCCA others(36): Show TCCATCCATCTACCCATCCATTTATCTACCATCCATTCATCTAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(72): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0028 a0001c0030 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0041 a0001c0047 a0001c0049 a0001c0053 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0004c0043 a0005c0008 a0006c0022 a0009c0025 a0012c0039 a0015c0023 a0017c0054	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(66): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0069 a0001c0001t0072 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0053 a0001c0002t0054 a0001c0002t0067 a0001c0003t0005 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0016 a0001c0003t0019 a0001c0003t0022 a0001c0003t0052 a0001c0005t0001 a0001c0005t0004 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0066 a0001c0009t0029 a0001c0010t0073 a0001c0011t0060 a0001c0014t0019 a0001c0014t0034 a0001c0015t0011 a0001c0016t0001 a0001c0016t0013 a0001c0028t0028 a0001c0030t0040 a0001c0033t0075 a0001c0034t0009 a0001c0036t0044 a0001c0037t0020 a0001c0038t0038 a0001c0041t0013 a0001c0047t0071 a0001c0049t0001 a0001c0053t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0012 a0002c0004t0056 a0002c0050t0045 a0003c0012t0036 a0003c0012t0055 a0003c0013t0021 a0003c0013t0033 a0003c0035t0007 a0003c0042t0003 a0004c0043t0037 a0005c0008t0001 a0005c0008t0013 a0006c0022t0039 a0009c0025t0031 a0012c0039t0063 a0015c0023t0008 a0017c0054t0022	a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0004g0138 others(72): Show a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0004g0138 a0001c0001t0007g0063 a0001c0001t0009g0085 a0001c0001t0018g0011 a0001c0001t0023g0168 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0069g0092 a0001c0001t0072g0161 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0074 a0001c0002t0003g0131 a0001c0002t0004g0018 a0001c0002t0007g0008 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0067g0115 a0001c0003t0005g0079 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0015g0034 a0001c0003t0016g0091 a0001c0003t0019g0023 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0005t0001g0156 a0001c0005t0004g0101 a0001c0005t0007g0065 a0001c0006t0001g0054 a0001c0006t0002g0118 a0001c0006t0066g0084 a0001c0009t0029g0038 a0001c0010t0073g0167 a0001c0011t0060g0107 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0001g0009 a0001c0016t0013g0039 a0001c0028t0028g0152 a0001c0030t0040g0109 a0001c0033t0075g0160 a0001c0034t0009g0093 a0001c0036t0044g0022 a0001c0037t0020g0017 a0001c0038t0038g0128 a0001c0041t0013g0031 a0001c0047t0071g0051 a0001c0049t0001g0059 a0001c0053t0001g0044 a0002c0004t0003g0012 a0002c0004t0008g0078 a0002c0004t0012g0035 a0002c0004t0056g0134 a0002c0050t0045g0132 a0003c0012t0036g0010 a0003c0012t0055g0033 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0043t0037g0058 a0005c0008t0001g0006 a0005c0008t0001g0029 a0005c0008t0013g0155 a0006c0022t0039g0153 a0009c0025t0031g0025 a0012c0039t0063g0064 a0015c0023t0008g0122 a0017c0054t0022g0113	75	168	0.4464	43	c.648 others(62): Show c.648+29902_648+29903insTTATCTACCATCCATTCATCTACCCA TCCATCTACCCATCCAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7561516	C C	CCATCTAC others(36): Show CCATCTACCCATCCATTTATCTACCATCCATTCATCTACCCATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG03195.hp1 others(1): Show HG02280.hp1 HG02451.hp1 HG03195.hp1 NA18522.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0020 a0006c0021 others(1): Show a0001c0001 a0006c0020 a0006c0021 a0010c0040	a0001c0001t0013 a0006c0020t0020 a0006c0021t0070 others(1): Show a0001c0001t0013 a0006c0020t0020 a0006c0021t0070 a0010c0040t0004	a0001c0001t0013g0125 a0006c0020t0020g0037 a0006c0021t0070g0103 others(1): Show a0001c0001t0013g0125 a0006c0020t0020g0037 a0006c0021t0070g0103 a0010c0040t0004g0024	4	168	0.0238	43	c.648 others(62): Show c.648+29902_648+29903insTTATCTACCATCCATTCATCTACCCA TACATCTACCCATCCAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5705396	G G	GGGAGGCT others(36): Show GGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0000 a0001c0001t0138g0000	1	434	0.0023	43	c.11 others(56): Show c.11349_*11350insGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGG GTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4012		chr2	TogoVar
SPAG4_chr20_35610829_35626094	35615420	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	43	c.-58 others(52): Show c.-584_-583insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		408		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	320	0.0031	43	c.-58 others(52): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615430	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	320	0.0031	43	c.-57 others(52): Show c.-574_-573insAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGA AAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		398		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	43	c.-18 others(54): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 NA19084.hp2 HG01081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0004 a0001c0001t0001g0035	2	330	0.0061	43	c.-18 others(54): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATAATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	330	0.0030	43	c.-18 others(54): Show c.-1820_-1819insAAAAAATTATATATATATATATATATATATATAT ATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPDYE2B_chr7_102645319_102667625	102646923	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	43	c.-38 others(54): Show c.-3876_-3875insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3395		chr7	TogoVar
SPHKAP_chr2_227974955_228186687	228139935	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	322	0.0031	43	c.33- others(58): Show c.33-7851_33-7850insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPINK5_chr5_148058980_148142382	148123445	C C	CTATATAT others(36): Show CTATATATATATAGATAGATATTATCTATCTATCTATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	384	0.0026	43	c.253 others(60): Show c.2539-378_2539-377insTAGATAGATATTATCTATCTATCTATAT ATATATATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45728398	A A	AAATAGCA others(36): Show AAATAGCAAAATTAAAAAAGCAATTGCAACAAAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 NA19080.hp1 HG01943.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0074 a0002c0002t0001g0076	2	458	0.0044	43	c.27 others(54): Show c.2763_*2764insAATAGCAAAATTAAAAAAGCAATTGCAACAAAAA TAAATAAAT	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding		2569		chr20	TogoVar
SPINT4_chr20_45717347_45730830	45728402	A A	AGCAAAAT others(36): Show AGCAAAATTAAAAAAGCAATTGCAACAAAAATAAATAAATAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	458	0.0022	43	c.27 others(54): Show c.2767_*2768insGCAAAATTAAAAAAGCAATTGCAACAAAAATAAA TAAATAATG	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding		2573		chr20	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	356	0.0028	43	c.180 others(60): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATATAT ATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(36): Show AAACAAACATATATATATGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0328 a0001c0001t0003g0325 a0001c0001t0001g0328 a0001c0001t0003g0325	2	356	0.0056	43	c.180 others(60): Show c.1807-513_1807-512insACAAACATATATATATGTATATATATAT ATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0130 a0001c0001t0050g0130	1	404	0.0025	43	c.-40 others(54): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	260	0.0039	43	c.-12 others(54): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPPL2B_chr19_2323684_2360095	2348391	A A	ACACACAC others(36): Show ACACACACTCGCGTTCTCATTCGCTTGATTCCATTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0154 a0002c0007t0003g0154	1	414	0.0024	43	c.135 others(62): Show c.1355-3037_1355-3036insCTCGCGTTCTCATTCGCTTGATTCCA TTCTCTCTCTCCACACA	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348639	G G	GTCATTCG others(36): Show GTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp1 NA18994.hp1 others(1): Show HG00609.hp1 HG02165.hp1 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 others(1): Show a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076	4	414	0.0097	43	c.135 others(62): Show c.1355-2725_1355-2683dupCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348721	C C	CGCTCTCA others(36): Show CGCTCTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	414	0.0024	43	c.135 others(62): Show c.1355-2683_1355-2682insCACACACACTCATGCTCTCATTCGCT TGATTCCGTTCTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349494	T T	TTCTCATT others(36): Show TTCTCATTCGCTTGATTCCGTTCTCTCTCTCCACACACACGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	414	0.0024	43	c.135 others(62): Show c.1355-1930_1355-1929insTTGATTCCGTTCTCTCTCTCCACACA CACGCGCTCTCATTCGC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRBD1_chr2_45383680_45616267	45587049	T T	TTATTTTA others(36): Show TTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	358	0.0028	43	c.649 others(60): Show c.649-1276_649-1275insTTTAAAATAATTTTAAATATTTTAATAA TTATATTTTAAAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63949072	C C	CCATATAT others(36): Show CCATATATATACATTCATATATGTATTTTCCATATATATACATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0090 a0001c0002t0005g0090	1	170	0.0059	43	c.68- others(60): Show c.68-34868_68-34867insATACATTCATATATGTATTTTCCATATA TATACATTCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRMS_chr20_63533489_63552749	63536087	C C	CGCCCCCC others(36): Show CGCCCCCCCCACCTGGCCTCCCGCCCCCCCTCACCTGGCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0003	1	356	0.0028	43	c.46 others(54): Show c.4688_*4730dupTGGAGGCCAGGTGAGGGGGGGCGGGAGGCCAGGT GGGGGGGGC	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2401		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAATA others(36): Show AAAAAATATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp1 others(1): Show HG01256.hp1 HG01258.hp2 HG01358.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 others(1): Show a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054	4	396	0.0101	43	c.-34 others(60): Show c.-34+5364_-34+5365insAAAATATATATATATATATATATCATAT ATATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRRM3_chr7_76196896_76292287	76227020	A A	ACAGCCAA others(36): Show ACAGCCAATCAGTGGTAGGGTAAAGACTTCCCATGTGCTGCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01243.hp1 others(26): Show HG00639.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0013 a0001c0001 a0001c0005 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0002 a0001c0005t0005 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0141 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0222 a0001c0005t0002g0229 a0001c0005t0005g0216 a0001c0005t0005g0217 a0001c0005t0005g0218 a0007c0013t0001g0073	29	324	0.0895	43	c.-39 others(60): Show c.-39-7835_-39-7793dupCAGCCAATCAGTGGTAGGGTAAAGACTT CCCATGTGCTGCTCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATAATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0065 a0003c0016t0002g0065	1	412	0.0024	43	c.138 others(60): Show c.1387+451_1387+452insATATATAATATATATATATATATATATA TATATTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0017 a0002c0003t0003g0017	1	412	0.0024	43	c.138 others(60): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18960.hp2 HG01109.hp1 NA18960.hp2	a0004 a0005 a0004 a0005	a0004c0014 a0005c0018 a0004c0014 a0005c0018	a0004c0014t0001 a0005c0018t0001 a0004c0014t0001 a0005c0018t0001	a0004c0014t0001g0100 a0005c0018t0001g0238 a0004c0014t0001g0100 a0005c0018t0001g0238	2	412	0.0049	43	c.138 others(60): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	412	0.0024	43	c.138 others(60): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0050 a0003c0007t0002g0050	1	412	0.0024	43	c.138 others(60): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	412	0.0024	43	c.138 others(60): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	202	0.0050	43	c.75 others(54): Show c.7568_*7569insTATATATATATATATATATATATATATATATATA TATTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0194 a0002c0004t0007g0194	1	202	0.0050	43	c.75 others(54): Show c.7568_*7569insTATATATATATATATATATATATATATATATTTT TTTTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar

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Search Results (Total: 2299 hits)