Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SFXN1_chr5_175473560_175534742	175524124	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00642.hp1 others(43): Show HG00099.hp2 HG00558.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02109.hp1 HG02148.hp1 HG02300.hp1 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18969.hp1 NA18972.hp2 NA18981.hp1 NA18985.hp1 NA18988.hp2 NA18992.hp1 NA19012.hp2 NA19066.hp1 NA19084.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0058 a0001c0003t0060 a0001c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 others(43): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0276 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0003g0175 a0001c0001t0010g0054 a0001c0001t0010g0106 a0001c0001t0010g0299 a0001c0001t0010g0319 a0001c0001t0058g0027 a0001c0003t0060g0069 a0001c0010t0001g0018	46	372	0.1237	-21	c.872 others(38): Show c.872+1704_872+1724delATATATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524126	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG02300.hp2 others(3): Show HG00140.hp1 HG01106.hp1 HG02300.hp2 HG02698.hp1 NA18747.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0116 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0003g0127 a0001c0001t0010g0117	6	372	0.0161	-21	c.872 others(38): Show c.872+1705_872+1725delTATATATATATATATATATAT		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10						chr5	TogoVar
SFXN2_chr10_102709636_102748492	102719761	GAGCAAAA others(14): Show GAGCAAAATGAACATACCACCT	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	404	0.0025	-21	c.-26 others(38): Show c.-26+5081_-26+5101delAGCAAAATGAACATACCACCT		SFXN2	ENSG00000156398.13	transcript	ENST00000369893.10	protein_coding	1/11						chr10	TogoVar
SGCA_chr17_50161005_50180928	50179284	AGATAGGG others(14): Show AGATAGGGTCTCACTGTGTTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	416	0.0024	-21	c.35 others(32): Show c.3586_*3606delGATAGGGTCTCACTGTGTTGC		SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding					3357		chr17	TogoVar
SGCD_chr5_156322164_156772788	156622435	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG02717.hp2 others(5): Show HG01981.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0042 a0001c0002t0022	a0001c0001t0001g0117 a0001c0001t0006g0038 a0001c0001t0006g0066 others(5): Show a0001c0001t0001g0117 a0001c0001t0006g0038 a0001c0001t0006g0066 a0001c0001t0012g0010 a0001c0001t0020g0017 a0001c0001t0022g0064 a0001c0001t0042g0065 a0001c0002t0022g0029	8	150	0.0533	-21	c.503 others(40): Show c.503-25004_503-24984delAATAATAATAATAATAATAAT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14656197	GCAGAGAT others(14): Show GCAGAGATAAAGTGTCTTTATC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01081.hp1 others(27): Show HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02135.hp2 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03942.hp1 HG04204.hp1 NA18951.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0074 a0001c0001t0080 a0001c0001t0084 a0001c0001t0087 a0002c0002t0009	a0001c0001t0001g0089 a0001c0001t0002g0095 a0001c0001t0006g0092 others(27): Show a0001c0001t0001g0089 a0001c0001t0002g0095 a0001c0001t0006g0092 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0015g0005 a0001c0001t0017g0011 a0001c0001t0019g0028 a0001c0001t0021g0015 a0001c0001t0024g0031 a0001c0001t0027g0010 a0001c0001t0029g0016 a0001c0001t0031g0013 a0001c0001t0034g0030 a0001c0001t0035g0014 a0001c0001t0039g0036 a0001c0001t0042g0040 a0001c0001t0045g0008 a0001c0001t0046g0019 a0001c0001t0047g0043 a0001c0001t0049g0046 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0068g0064 a0001c0001t0072g0066 a0001c0001t0074g0098 a0001c0001t0080g0090 a0001c0001t0084g0101 a0001c0001t0087g0088 a0002c0002t0009g0001	30	102	0.2941	-21	c.40- others(40): Show c.40-101292_40-101272delGATAAAGACACTTTATCTCTG		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGCZ_chr8_14079845_15243431	14679496	TACATATA others(14): Show TACATATATATTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01257.hp2 others(17): Show HG00438.hp2 HG00738.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02132.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0025 a0001c0001t0033 a0001c0001t0044 a0001c0001t0049 a0001c0001t0055 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0082 a0001c0001t0084	a0001c0001t0001g0080 a0001c0001t0003g0020 a0001c0001t0003g0021 others(17): Show a0001c0001t0001g0080 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0072 a0001c0001t0005g0091 a0001c0001t0006g0083 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0022g0007 a0001c0001t0025g0022 a0001c0001t0033g0003 a0001c0001t0044g0033 a0001c0001t0049g0046 a0001c0001t0055g0100 a0001c0001t0067g0068 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0072g0066 a0001c0001t0082g0063 a0001c0001t0084g0101	20	102	0.1961	-21	c.40- others(40): Show c.40-124591_40-124571delGTATATATATAATATATATGT		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGCZ_chr8_14079845_15243431	14842466	AGAAGGAA others(14): Show AGAAGGAAGAAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG03195.hp1 others(1): Show HG02622.hp2 HG02922.hp2 HG03195.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0058 a0001c0001t0075 a0001c0001t0087 others(1): Show a0001c0001t0058 a0001c0001t0075 a0001c0001t0087 a0002c0002t0009	a0001c0001t0058g0097 a0001c0001t0075g0044 a0001c0001t0087g0088 others(1): Show a0001c0001t0058g0097 a0001c0001t0075g0044 a0001c0001t0087g0088 a0002c0002t0009g0001	4	102	0.0392	-21	c.40- others(40): Show c.40-287561_40-287541delCTTTCCTTCCTTTCTTCCTTC		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGCZ_chr8_14079845_15243431	14847126	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02109.hp2 HG04204.hp1 others(2): Show HG01257.hp1 HG02109.hp2 HG04204.hp1 HG06807.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0029 a0001c0001t0038 a0001c0001t0061 others(2): Show a0001c0001t0029 a0001c0001t0038 a0001c0001t0061 a0001c0001t0077 a0003c0003t0043	a0001c0001t0029g0016 a0001c0001t0038g0023 a0001c0001t0061g0049 others(2): Show a0001c0001t0029g0016 a0001c0001t0038g0023 a0001c0001t0061g0049 a0001c0001t0077g0065 a0003c0003t0043g0041	5	102	0.0490	-21	c.40- others(40): Show c.40-292221_40-292201delCTTCTTCTTCTTCTTCTTCTT		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGIP1_chr1_66529153_66756139	66628123	ACATTTTC others(14): Show ACATTTTCTTAATCCAGTCTAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	302	0.0033	-21	c.74+ others(36): Show c.74+2218_74+2238delTTCTTAATCCAGTCTATCATT		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66631680	TTTCTCTC others(14): Show TTTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0061 a0001c0004t0061	a0001c0004t0061g0008 a0001c0004t0061g0008	1	302	0.0033	-21	c.75- others(36): Show c.75-1388_75-1368delTCTCTCTCTCTCTCTCTCTCT		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK3_chr8_66707781_66867022	66717216	AAACAAAA others(14): Show AAACAAAAAAAACAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG01978.hp2 others(26): Show HG00741.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 NA18957.hp1 NA19012.hp2 NA19030.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0132 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0005g0061 a0001c0002t0005g0062 a0001c0002t0005g0064 a0001c0002t0005g0065 a0001c0002t0006g0055 a0001c0002t0007g0023 a0001c0002t0011g0034	29	142	0.2042	-21	c.-12 others(40): Show c.-122+4386_-122+4406delCAAAAAAAACAAAAAAAACAA		SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50458339	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	312	0.0032	-21	c.-31 others(40): Show c.-313+2313_-313+2333delAAAAAAAAAAAAAAAAAAAAA		SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	5/10						chr10	TogoVar
SGMS2_chr4_107819932_107920047	107849635	GTGACTTT others(14): Show GTGACTTTTTAAAGATCACAAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG02109.hp1 others(15): Show HG00735.hp2 HG01109.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0002t0023 a0001c0005t0031	a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0201 others(15): Show a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0002g0177 a0001c0001t0003g0176 a0001c0001t0003g0226 a0001c0001t0003g0249 a0001c0001t0004g0122 a0001c0001t0010g0210 a0001c0001t0018g0228 a0001c0001t0028g0203 a0001c0001t0029g0230 a0001c0002t0023g0237 a0001c0005t0031g0012	18	270	0.0667	-21	c.-32 others(40): Show c.-326-8815_-326-8795delTGACTTTTTAAAGATCACAAT		SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
SGO2_chr2_200521207_200589096	200571705	TAATGAAC others(14): Show TAATGAACAGCTGGCTCAGATG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02886.hp2 HG02886.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0260 a0013c0025t0001g0260	1	384	0.0026	-21	c.137 others(30): Show c.1378_1398delATGAATGAACAGCTGGCTCAG	p.Met others(13): Show p.Met460_Gln466del	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	7/9	1426/4478	1378/3798	460/1265		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP1_chr14_63679216_63733065	63718998	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0038 a0001c0002t0015g0038	1	288	0.0035	-21	c.684 others(38): Show c.684+8242_684+8262delAAAAATATATATATATATATA		SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2						chr14	TogoVar
SGPP2_chr2_222419543_222567621	222422833	ACTAGAAG others(14): Show ACTAGAAGCTGGAATCAGTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	272	0.0037	-21	c.-17 others(32): Show c.-1769_-1749delCTAGAAGCTGGAATCAGTAAC		SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding					1709		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222556774	CTCCCCAT others(14): Show CTCCCCATCCACCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	272	0.0037	-21	c.649 others(38): Show c.649-1551_649-1531delTCCCCATCCACCCTCACTCCT		SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH2B3_chr12_111400923_111456623	111429027	GGAGGAGG others(14): Show GGAGGAGGAGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01934.hp1 others(1): Show HG00735.hp2 HG01081.hp2 HG01934.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0247 a0001c0001t0008g0010 a0001c0001t0008g0247	4	326	0.0123	-21	c.732 others(40): Show c.732+10171_732+10191delAGAGGAGGAGGAGGAGGAGGA		SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2D1B_chr1_162390268_162417136	162403500	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	424	0.0024	-21	c.135 others(36): Show c.135-719_135-699delATATATATATTTTTTTTTTTT		SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3						chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403502	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	424	0.0024	-21	c.135 others(36): Show c.135-721_135-701delATATATATATATTTTTTTTTT		SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3						chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403504	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02165.hp2 NA19083.hp2 HG00733.hp1 HG02165.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0131 a0001c0002t0002g0138 a0001c0002t0002g0119 a0001c0002t0002g0131 a0001c0002t0002g0138	3	424	0.0071	-21	c.135 others(36): Show c.135-723_135-703delATATATATATATATTTTTTTT		SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3						chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403506	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	424	0.0024	-21	c.135 others(36): Show c.135-725_135-705delATATATATATATATATTTTTT		SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3						chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127757602	AGATGATG others(14): Show AGATGATGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0028 a0003c0007t0001g0028	1	332	0.0030	-21	c.555 others(38): Show c.555+3988_555+4008delATCATCATCATCATCATCATC		SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11						chr9	TogoVar
SH2D3C_chr9_127733317_127783666	127757627	GATGATGA others(14): Show GATGATGATGATGATGATGATT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02135.hp2 HG02155.hp1 others(7): Show HG01109.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 NA18939.hp2 NA18947.hp2 NA18957.hp1 NA18977.hp2 NA18988.hp2 NA19070.hp2	a0003 a0008 a0003 a0008	a0003c0007 a0003c0018 a0008c0017 a0003c0007 a0003c0018 a0008c0017	a0003c0007t0001 a0003c0018t0001 a0008c0017t0001 a0003c0007t0001 a0003c0018t0001 a0008c0017t0001	a0003c0007t0001g0003 a0003c0007t0001g0008 a0003c0007t0001g0029 others(4): Show a0003c0007t0001g0003 a0003c0007t0001g0008 a0003c0007t0001g0029 a0003c0007t0001g0030 a0003c0007t0001g0031 a0003c0018t0001g0026 a0008c0017t0001g0258	10	332	0.0301	-21	c.555 others(38): Show c.555+3963_555+3983delAATCATCATCATCATCATCAT		SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11						chr9	TogoVar
SH2D4A_chr8_19308693_19401218	19378935	TGCCAGGC others(14): Show TGCCAGGCATGGCGGTGCATGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0008 a0003c0002t0001g0008	2	354	0.0057	-21	c.104 others(40): Show c.1048+5276_1048+5296delGCCAGGCATGGCGGTGCATGC		SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	8/9						chr8	TogoVar
SH2D4B_chr10_80532902_80651560	80572965	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0151 a0004c0004t0001g0151	1	322	0.0031	-21	c.495 others(38): Show c.495+1388_495+1408delATATATATATATATATATATA		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7						chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572966	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	322	0.0031	-21	c.495 others(38): Show c.495+1390_495+1410delATATATATATATATATATATT		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572970	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18942.hp2 NA18950.hp2 others(4): Show HG03654.hp2 NA18942.hp2 NA18950.hp2 NA18983.hp2 NA18994.hp2 NA19009.hp2 NA19010.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0002 a0003c0003 a0001c0006 a0002c0002 a0003c0003	a0001c0006t0008 a0002c0002t0001 a0003c0003t0001 a0001c0006t0008 a0002c0002t0001 a0003c0003t0001	a0001c0006t0008g0099 a0002c0002t0001g0059 a0002c0002t0001g0074 others(4): Show a0001c0006t0008g0099 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0267 a0003c0003t0001g0057 a0003c0003t0001g0068 a0003c0003t0001g0093	7	322	0.0217	-21	c.495 others(38): Show c.495+1394_495+1414delATATATATATATATATTTTTT		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572972	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG02132.hp2 others(15): Show HG00673.hp1 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG03704.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18956.hp1 NA18960.hp2 NA18967.hp1 NA18970.hp2 NA18990.hp1 NA19066.hp1 NA19076.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0002c0021 others(1): Show a0002c0002 a0002c0012 a0002c0021 a0003c0003	a0002c0002t0001 a0002c0012t0001 a0002c0021t0001 others(2): Show a0002c0002t0001 a0002c0012t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 others(14): Show a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0110 a0002c0012t0001g0003 a0002c0012t0001g0094 a0002c0012t0001g0097 a0002c0021t0001g0003 a0003c0003t0001g0002 a0003c0003t0001g0055 a0003c0003t0001g0064 a0003c0003t0001g0091 a0003c0003t0002g0060 a0003c0003t0002g0062	18	322	0.0559	-21	c.495 others(38): Show c.495+1396_495+1416delATATATATATATATTTTTTTT		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572974	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18747.hp2 HG02698.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0012 a0003c0003t0002 a0003c0003t0012	a0003c0003t0002g0103 a0003c0003t0012g0254 a0003c0003t0002g0103 a0003c0003t0012g0254	2	322	0.0062	-21	c.495 others(38): Show c.495+1398_495+1418delATATATATATATTTTTTTTTT		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BGR_chr21_39446970_39520504	39510377	CACACACA others(14): Show CACACACACACACACTGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0223 a0003c0003t0003g0223	1	302	0.0033	-21	c.436 others(38): Show c.436-1288_436-1268delTGTAGCTACACACACACACAC		SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3D19_chr4_151115281_151330605	151168175	GAAGGTGA others(14): Show GAAGGTGAGAAGTATATTGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0005 others(19): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0001c0020 a0001c0025 a0002c0003 a0002c0019 a0003c0004 a0004c0011 a0004c0012 a0004c0014 a0004c0017 a0004c0018 a0004c0024 a0006c0007 a0007c0008 a0008c0009 a0010c0013 a0011c0022 a0012c0021 a0013c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0005t0001 a0001c0016t0013 a0001c0020t0005 a0001c0025t0001 a0002c0003t0002 a0002c0003t0003 a0002c0019t0001 a0003c0004t0001 a0004c0011t0001 a0004c0012t0001 a0004c0012t0009 a0004c0014t0003 a0004c0017t0003 a0004c0018t0001 a0004c0024t0001 a0006c0007t0001 a0007c0008t0001 a0007c0008t0006 a0008c0009t0001 a0010c0013t0001 a0010c0013t0011 a0011c0022t0001 a0012c0021t0001 a0013c0023t0002	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 others(218): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0018 a0001c0001t0004g0094 a0001c0001t0004g0199 a0001c0001t0005g0241 a0001c0001t0007g0209 a0001c0001t0012g0114 a0001c0001t0014g0051 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0118 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0211 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0010g0068 a0001c0005t0001g0001 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0170 a0001c0005t0001g0181 a0001c0005t0001g0190 a0001c0005t0001g0214 a0001c0005t0001g0232 a0001c0016t0013g0145 a0001c0020t0005g0141 a0001c0025t0001g0183 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0039 a0002c0003t0003g0122 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0019t0001g0239 a0003c0004t0001g0070 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0265 a0003c0004t0001g0267 a0003c0004t0001g0268 a0004c0011t0001g0064 a0004c0011t0001g0110 a0004c0012t0001g0117 a0004c0012t0009g0067 a0004c0014t0003g0002 a0004c0017t0003g0146 a0004c0018t0001g0103 a0004c0024t0001g0252 a0006c0007t0001g0100 a0006c0007t0001g0111 a0006c0007t0001g0220 a0006c0007t0001g0222 a0006c0007t0001g0223 a0006c0007t0001g0236 a0007c0008t0001g0132 a0007c0008t0001g0242 a0007c0008t0001g0243 a0007c0008t0001g0244 a0007c0008t0006g0276 a0008c0009t0001g0087 a0008c0009t0001g0088 a0008c0009t0001g0089 a0008c0009t0001g0090 a0010c0013t0001g0107 a0010c0013t0011g0096 a0011c0022t0001g0155 a0012c0021t0001g0004 a0013c0023t0002g0119	222	282	0.7872	-21	c.153 others(40): Show c.1535-2500_1535-2480delTTTCAATATACTTCTCACCTT		SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	7/19						chr4	TogoVar
SH3GL3_chr15_83442341_83623743	83443038	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show HG01109.hp1 HG02257.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122	7	324	0.0216	-21	c.-44 others(32): Show c.-4495_-4475delAAAAAAAAAAAAAAAAAAAAA		SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding					4302		chr15	TogoVar
SH3KBP1_chrX_19528977_19892600	19760020	TCTCCTCT others(14): Show TCTCCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02970.hp1 HG01496.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0191 a0001c0001t0001g0200	2	204	0.0098	-21	c.163 others(40): Show c.163-13600_163-13580delGGAGAGAGAGAGAGAGAGGAG		SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17						chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19766483	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp1 HG01517.hp2 others(2): Show HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0177	5	204	0.0245	-21	c.163 others(40): Show c.163-20063_163-20043delAAAAAAAAAAAAAAAAAAAAA		SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17						chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103639612	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp2 others(39): Show HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00642.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01981.hp1 HG02083.hp2 HG02257.hp1 HG02293.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18975.hp2 NA18979.hp1 NA19002.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19080.hp1 NA19080.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0004c0011	a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 others(26): Show a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0093 a0001c0002t0077 a0001c0003t0011 a0001c0003t0015 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0054 a0001c0003t0058 a0001c0003t0061 a0001c0003t0065 a0001c0003t0080 a0001c0003t0094 a0001c0003t0098 a0001c0003t0100 a0001c0003t0101 a0001c0003t0105 a0001c0008t0027 a0001c0008t0051 a0001c0008t0125 a0001c0008t0126 a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 a0004c0011t0114	a0001c0001t0021g0206 a0001c0001t0022g0100 a0001c0001t0022g0110 others(39): Show a0001c0001t0021g0206 a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0022g0142 a0001c0001t0023g0099 a0001c0001t0093g0106 a0001c0002t0077g0043 a0001c0003t0011g0014 a0001c0003t0011g0028 a0001c0003t0011g0039 a0001c0003t0015g0136 a0001c0003t0015g0137 a0001c0003t0015g0183 a0001c0003t0015g0236 a0001c0003t0032g0002 a0001c0003t0032g0045 a0001c0003t0033g0067 a0001c0003t0034g0034 a0001c0003t0034g0052 a0001c0003t0035g0059 a0001c0003t0035g0060 a0001c0003t0054g0065 a0001c0003t0058g0066 a0001c0003t0061g0061 a0001c0003t0065g0025 a0001c0003t0080g0086 a0001c0003t0094g0182 a0001c0003t0098g0179 a0001c0003t0100g0186 a0001c0003t0101g0184 a0001c0003t0105g0211 a0001c0008t0027g0162 a0001c0008t0027g0175 a0001c0008t0027g0215 a0001c0008t0051g0246 a0001c0008t0051g0247 a0001c0008t0125g0164 a0001c0008t0126g0090 a0004c0011t0108g0222 a0004c0011t0110g0169 a0004c0011t0111g0223 a0004c0011t0114g0107	42	250	0.1680	-21	c.605 others(40): Show c.605-12431_605-12411delCTTTTTCTTTTTTTTTTTTTT		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	8/14						chr10	TogoVar
SH3RF1_chr4_169089259_169275956	169093278	GTTAGTCA others(14): Show GTTAGTCAAACATCTATTAAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02486.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0101 a0001c0002t0003g0104 a0001c0002t0003g0011 a0001c0002t0003g0101 a0001c0002t0003g0104	3	216	0.0139	-21	c.32 others(32): Show c.3220_*3240delGTTTAATAGATGTTTGACTAA		SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding					980		chr4	TogoVar
SH3RF1_chr4_169089259_169275956	169146034	CTATATAT others(14): Show CTATATATTCTATATAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	216	0.0046	-21	c.765 others(38): Show c.765+9425_766-9415delATATTTTATATAGAATATATA		SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11						chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8233730	TTCACCTG others(14): Show TTCACCTGTTCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	374	0.0027	-21	c.328 others(38): Show c.3282+218_3282+238delTCACCTGTTCATCCATCCATC		SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17						chr4	TogoVar
SH3TC2_chr5_148977150_149068062	149021884	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0172 a0001c0001t0171g0172	1	326	0.0031	-21	c.305 others(40): Show c.3053+4667_3053+4687delAAAAAAAAAAAAAAAAAAAAA		SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16						chr5	TogoVar
SHC2_chr19_411589_466033	457954	CGGGGAGG others(14): Show CGGGGAGGCGGAAGCGGGTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 a0001c0005t0015 a0001c0007t0003 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0007g0041 a0001c0005t0006g0009 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0013t0005g0007	8	212	0.0377	-21	c.468 others(38): Show c.468+2554_468+2574delAGGACCCGCTTCCGCCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458038	CGGGGAGG others(14): Show CGGGGAGGCGGAAGCGGGTCTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0078 a0001c0003t0002g0078	1	212	0.0047	-21	c.468 others(38): Show c.468+2470_468+2490delAAGACCCGCTTCCGCCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458073	CGGGTCTT others(14): Show CGGGTCTTGGGGAGGCGGAAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01943.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0014 a0001c0005 a0001c0006 a0001c0014	a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 others(4): Show a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0014t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 others(14): Show a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0022 a0001c0005t0001g0025 a0001c0005t0005g0026 a0001c0005t0006g0010 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0014t0001g0021	17	212	0.0802	-21	c.468 others(38): Show c.468+2435_468+2455delACTTCCGCCTCCCCAAGACCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458101	CGGGGAGG others(14): Show CGGGGAGGCAGAAGCGGGTCTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	212	0.0047	-21	c.468 others(38): Show c.468+2407_468+2427delAAGACCCGCTTCTGCCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458322	GGAAGCGG others(14): Show GGAAGCGGGTTCCGGGGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG01109.hp2 others(21): Show HG00621.hp1 HG01074.hp2 HG01109.hp2 HG01884.hp1 HG02132.hp2 HG02258.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG04228.hp1 NA18940.hp2 NA18954.hp2 NA18971.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19056.hp2 NA19074.hp2 NA19080.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0004c0010 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0007t0002 a0004c0010t0002 a0006c0011t0005	a0001c0001t0001g0061 a0001c0001t0002g0079 a0001c0001t0003g0071 others(20): Show a0001c0001t0001g0061 a0001c0001t0002g0079 a0001c0001t0003g0071 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0013g0073 a0001c0001t0016g0070 a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0002g0001 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0010g0077 a0001c0007t0002g0080 a0004c0010t0002g0067 a0004c0010t0002g0068 a0006c0011t0005g0059 a0006c0011t0005g0063	24	212	0.1132	-21	c.468 others(38): Show c.468+2186_468+2206delTGTCTCCCCGGAACCCGCTTC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458545	CGGGGAGG others(14): Show CGGGGAGGTGGAAGCGGGTCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0002 a0008c0021t0002	a0008c0021t0002g0032 a0008c0021t0002g0032	1	212	0.0047	-21	c.468 others(38): Show c.468+1963_468+1983delAGGACCCGCTTCCACCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458755	CCCGGGGA others(14): Show CCCGGGGAGGCGGAGGCGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 NA18522.hp1 HG02922.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0001t0006 a0001c0007t0006 a0001c0001t0005 a0001c0001t0006 a0001c0007t0006	a0001c0001t0005g0053 a0001c0001t0006g0054 a0001c0007t0006g0055 a0001c0001t0005g0053 a0001c0001t0006g0054 a0001c0007t0006g0055	3	212	0.0142	-21	c.468 others(38): Show c.468+1753_468+1773delAACCCGCCTCCGCCTCCCCGG		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458778	CGGGGAGG others(14): Show CGGGGAGGCGGAAGCGGGTCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18960.hp2 HG03540.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0043 a0001c0002t0003g0178 a0001c0001t0006g0043 a0001c0002t0003g0178	2	212	0.0094	-21	c.468 others(38): Show c.468+1730_468+1750delAGGACCCGCTTCCGCCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458798	CTGGGGAG others(14): Show CTGGGGAGGCGGAAGCGGGTCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0076 a0001c0003t0002g0076	1	212	0.0047	-21	c.468 others(38): Show c.468+1710_468+1730delAGACCCGCTTCCGCCTCCCCA		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar

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Search Results (Total: 6287 hits)