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
C2CD3_chr11_74007718_74176002	74129082	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01106.hp2 others(17): Show HG00642.hp1 HG01099.hp1 HG01106.hp2 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0003 a0002c0028 a0005c0006 others(2): Show a0002c0003 a0002c0028 a0005c0006 a0005c0027 a0015c0019	a0002c0003t0001 a0002c0028t0001 a0005c0006t0001 others(2): Show a0002c0003t0001 a0002c0028t0001 a0005c0006t0001 a0005c0027t0001 a0015c0019t0001	a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 others(17): Show a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0028t0001g0011 a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0013 a0005c0006t0001g0014 a0005c0006t0001g0015 a0005c0006t0001g0020 a0005c0006t0001g0021 a0005c0006t0001g0023 a0005c0006t0001g0024 a0005c0006t0001g0025 a0005c0006t0001g0026 a0005c0006t0001g0027 a0005c0027t0001g0012 a0015c0019t0001g0022 a0015c0019t0001g0028	20	318	0.0629	-37	c.121 others(56): Show c.1217+3725_1217+3761delGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	7/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	410772	GTCTGTCC others(30): Show GTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG01175.hp1 others(3): Show HG00741.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG03579.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0103 a0001c0002t0069 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0014g0009 a0001c0001t0017g0018 others(3): Show a0001c0001t0001g0001 a0001c0001t0014g0009 a0001c0001t0017g0018 a0001c0001t0103g0083 a0001c0002t0069g0130 a0002c0005t0001g0147	6	322	0.0186	-37	c.-18 others(48): Show c.-1844_-1808delTCCCCAGGATCCGGGCCCAGCAGGGGCAGTGGAC AGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1626		chr19	TogoVar
C2CD4C_chr19_400445_414147	410823	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	322	0.0031	-37	c.-18 others(48): Show c.-1895_-1859delTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1677		chr19	TogoVar
C2CD4C_chr19_400445_414147	411267	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp1 others(71): Show HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18983.hp1 NA18997.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0003 a0001c0001 a0001c0002 others(2): Show a0000c0003 a0001c0001 a0001c0002 a0002c0005 a0002c0018	a0000c0003t0001 a0000c0003t0013 a0001c0001t0001 others(30): Show a0000c0003t0001 a0000c0003t0013 a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0001t0075 a0001c0001t0076 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0039 a0001c0002t0062 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0080 a0001c0002t0126 a0001c0002t0131 a0001c0002t0132 a0002c0005t0001 a0002c0005t0035 a0002c0005t0057 a0002c0018t0007	a0000c0003t0001g0023 a0000c0003t0013g0118 a0001c0001t0001g0001 others(31): Show a0000c0003t0001g0023 a0000c0003t0013g0118 a0001c0001t0001g0001 a0001c0001t0001g0177 a0001c0001t0013g0032 a0001c0001t0014g0009 a0001c0001t0015g0010 a0001c0001t0018g0015 a0001c0001t0035g0081 a0001c0001t0075g0072 a0001c0001t0076g0073 a0001c0001t0099g0079 a0001c0001t0101g0080 a0001c0001t0102g0082 a0001c0001t0103g0083 a0001c0002t0003g0002 a0001c0002t0007g0012 a0001c0002t0011g0007 a0001c0002t0013g0039 a0001c0002t0020g0139 a0001c0002t0022g0024 a0001c0002t0039g0138 a0001c0002t0062g0125 a0001c0002t0070g0131 a0001c0002t0071g0132 a0001c0002t0072g0133 a0001c0002t0080g0134 a0001c0002t0126g0137 a0001c0002t0131g0140 a0001c0002t0132g0141 a0002c0005t0001g0147 a0002c0005t0035g0146 a0002c0005t0057g0144 a0002c0018t0007g0148	74	322	0.2298	-37	c.-23 others(48): Show c.-2339_-2303delAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2121		chr19	TogoVar
C2CD4C_chr19_400445_414147	413008	ACATCCTG others(30): Show ACATCCTGGCCATCTATGCCACCAGCTGATACCCGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0004	a0000c0003 a0001c0001 a0001c0002 others(4): Show a0000c0003 a0001c0001 a0001c0002 a0001c0012 a0002c0005 a0002c0018 a0004c0014	a0000c0003t0001 a0000c0003t0008 a0000c0003t0013 others(72): Show a0000c0003t0001 a0000c0003t0008 a0000c0003t0013 a0000c0003t0021 a0000c0003t0036 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0045 a0001c0001t0055 a0001c0001t0061 a0001c0001t0065 a0001c0001t0075 a0001c0001t0076 a0001c0001t0085 a0001c0001t0086 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0116 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0140 a0001c0001t0141 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0028 a0001c0002t0039 a0001c0002t0060 a0001c0002t0062 a0001c0002t0064 a0001c0002t0068 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0080 a0001c0002t0126 a0001c0002t0131 a0001c0002t0132 a0001c0012t0008 a0002c0005t0001 a0002c0005t0023 a0002c0005t0035 a0002c0005t0057 a0002c0018t0007 a0004c0014t0017	a0000c0003t0001g0023 a0000c0003t0008g0115 a0000c0003t0013g0118 others(73): Show a0000c0003t0001g0023 a0000c0003t0008g0115 a0000c0003t0013g0118 a0000c0003t0021g0120 a0000c0003t0036g0119 a0001c0001t0001g0001 a0001c0001t0001g0177 a0001c0001t0002g0033 a0001c0001t0005g0006 a0001c0001t0006g0005 a0001c0001t0007g0019 a0001c0001t0008g0016 a0001c0001t0013g0032 a0001c0001t0014g0009 a0001c0001t0016g0014 a0001c0001t0017g0018 a0001c0001t0018g0015 a0001c0001t0021g0022 a0001c0001t0025g0021 a0001c0001t0034g0031 a0001c0001t0035g0081 a0001c0001t0036g0086 a0001c0001t0044g0044 a0001c0001t0045g0067 a0001c0001t0055g0068 a0001c0001t0061g0070 a0001c0001t0065g0071 a0001c0001t0075g0072 a0001c0001t0076g0073 a0001c0001t0085g0075 a0001c0001t0086g0076 a0001c0001t0094g0077 a0001c0001t0098g0078 a0001c0001t0099g0079 a0001c0001t0101g0080 a0001c0001t0102g0082 a0001c0001t0103g0083 a0001c0001t0104g0084 a0001c0001t0105g0085 a0001c0001t0106g0087 a0001c0001t0109g0089 a0001c0001t0110g0090 a0001c0001t0111g0091 a0001c0001t0116g0095 a0001c0001t0134g0107 a0001c0001t0135g0108 a0001c0001t0136g0109 a0001c0001t0138g0111 a0001c0001t0140g0113 a0001c0001t0141g0114 a0001c0002t0003g0002 a0001c0002t0007g0012 a0001c0002t0011g0007 a0001c0002t0013g0039 a0001c0002t0020g0139 a0001c0002t0022g0024 a0001c0002t0028g0037 a0001c0002t0039g0138 a0001c0002t0060g0124 a0001c0002t0062g0125 a0001c0002t0064g0127 a0001c0002t0068g0129 a0001c0002t0070g0131 a0001c0002t0071g0132 a0001c0002t0072g0133 a0001c0002t0080g0134 a0001c0002t0126g0137 a0001c0002t0131g0140 a0001c0002t0132g0141 a0001c0012t0008g0166 a0002c0005t0001g0147 a0002c0005t0023g0145 a0002c0005t0035g0146 a0002c0005t0057g0144 a0002c0018t0007g0148 a0004c0014t0017g0122	150	322	0.4658	-37	c.-40 others(48): Show c.-4080_-4044delCCCCGGGTATCAGCTGGTGGCATAGATGGCCAGG ATG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		3862		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557880	CCCTCCCG others(30): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01517.hp1 NA18943.hp1 others(2): Show HG00741.hp2 HG01517.hp1 NA18943.hp1 NA19007.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0104	5	326	0.0153	-37	c.145 others(54): Show c.145-7454_145-7418delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3_chr19_6672704_6725650	6711385	TATTAAGC others(30): Show TATTAAGCAGGGGCAGGGGAGAAAGGAGAGACAGAGAC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	370	0.0027	-37	c.127 others(54): Show c.1270-226_1270-190delGTCTCTGTCTCTCCTTTCTCCCCTGCCC CTGCTTAAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	11/40			chr19	TogoVar
C3orf33_chr3_155757617_155811278	155770980	GTGTGTGT others(30): Show GTGTGTGTGTGTGTTGAGACATAGTTTTGCTCTGCCAC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	406	0.0025	-37	c.323 others(54): Show c.323-3348_323-3312delGTGGCAGAGCAAAACTATGTCTCAACAC ACACACACA	C3orf33	ENSG00000174928.16	transcript	ENST00000340171.7	protein_coding	3/4			chr3	TogoVar
C7orf50_chr7_992006_1143247	1031435	GCAGAGAC others(30): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(18): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02698.hp2 HG03239.hp1 HG03453.hp2 HG04204.hp1 HG04228.hp1 NA18961.hp1 NA18965.hp2 NA18994.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0008c0009t0006	a0001c0001t0001g0054 a0001c0001t0006g0081 a0001c0001t0006g0085 others(18): Show a0001c0001t0001g0054 a0001c0001t0006g0081 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0008g0168 a0001c0001t0009g0117 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0017g0084 a0001c0001t0017g0096 a0008c0009t0006g0003	21	326	0.0644	-37	c.130 others(56): Show c.130-21329_130-21293delGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031472	CCAGAGAC others(30): Show CCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	326	0.0031	-37	c.130 others(56): Show c.130-21366_130-21330delCCCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031507	GGGCAGAG others(30): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18945.hp2 NA18990.hp1 others(1): Show HG00140.hp2 NA18945.hp2 NA18990.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073	4	326	0.0123	-37	c.130 others(56): Show c.130-21401_130-21365delGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031692	GGGCAGAG others(30): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01169.hp1 others(3): Show HG00741.hp1 HG01168.hp1 HG01169.hp1 HG02615.hp1 HG03453.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 others(3): Show a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0008g0168	6	326	0.0184	-37	c.130 others(56): Show c.130-21586_130-21550delGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1039112	GCCTCTGC others(30): Show GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	326	0.0031	-37	c.130 others(56): Show c.130-29006_130-28970delGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8B_chr1_56924207_56971015	56957271	CCAGTTCA others(30): Show CCAGTTCAATAACACAAAATAAATTATCTCTCAGCTTA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	402	0.0025	-37	c.250 others(52): Show c.250-398_250-362delTAAGCTGAGAGATAATTTATTTTGTGTTAT TGAACTG	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	2/11			chr1	TogoVar
CA4_chr17_60144973_60164546	60160681	GCAGAGTT others(30): Show GCAGAGTTTGCAGTAAGCCAAGATTGAACCACTGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	380	0.0026	-37	c.12 others(48): Show c.1258_*1294delCAGAGTTTGCAGTAAGCCAAGATTGAACCACTGC ACT	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		1136		chr17	TogoVar
CA5A_chr16_87883013_87941529	87917756	TACACAGT others(30): Show TACACAGTGCACATGTGCACACATGCACACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02055.hp1 HG02572.hp1 others(2): Show HG01256.hp1 HG02055.hp1 HG02572.hp1 HG02622.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0002t0002g0087 a0001c0003t0002g0054	5	400	0.0125	-37	c.340 others(54): Show c.340+8955_340+8991delGTATACATGTGTGCATGTGTGCACATGT GCACTGTGT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CABS1_chr4_70329981_70342116	70341436	GGATACAT others(30): Show GGATACATGAATTACATTTTGAGTCTATGGCCTTTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0002	1	446	0.0022	-37	c.45 others(48): Show c.4591_*4627delGATACATGAATTACATTTTGAGTCTATGGCCTTT ATT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		4321		chr4	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp1 HG01109.hp2 HG02895.hp1	a0001 a0034 a0001 a0034	a0001c0001 a0034c0081 a0001c0001 a0034c0081	a0001c0001t0004 a0034c0081t0019 a0001c0001t0004 a0034c0081t0019	a0001c0001t0004g0155 a0034c0081t0019g0152 a0001c0001t0004g0155 a0034c0081t0019g0152	2	218	0.0092	-37	c.293 others(54): Show c.293+8379_293+8415delATATATATATATATATATATATATATAT ATATTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0013 a0013	a0013c0089 a0013c0089	a0013c0089t0001 a0013c0089t0001	a0013c0089t0001g0143 a0013c0089t0001g0143	1	218	0.0046	-37	c.293 others(54): Show c.293+8375_293+8411delATATATATATATATATATATATATATAT ATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(30): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0005 a0005	a0005c0038 a0005c0039 a0005c0038 a0005c0039	a0005c0038t0023 a0005c0039t0032 a0005c0038t0023 a0005c0039t0032	a0005c0038t0023g0020 a0005c0039t0032g0079 a0005c0038t0023g0020 a0005c0039t0032g0079	2	248	0.0081	-37	c.226 others(56): Show c.2268-3442_2268-3406delCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG6_chr19_53986637_54017666	53990505	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 NA19006.hp1 HG01071.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0130 a0001c0001t0004g0124 a0001c0001t0004g0130	2	430	0.0047	-37	c.-23 others(48): Show c.-2372_-2336delTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1131		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990505	TTCCTCCC others(30): Show TTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0007 a0001c0001t0032g0007	2	394	0.0051	-37	c.76 others(48): Show c.7657_*7693delTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		291		chr19	TogoVar
CADM2_chr3_84953989_86079429	85769325	GTATATAT others(30): Show GTATATATACACGTATATACATATATACATATATAGTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0096 a0001c0002t0048g0096	1	146	0.0069	-37	c.89- others(54): Show c.89-32641_89-32605delTACACGTATATACATATATACATATATA GTATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM4_chr19_43617368_43644850	43635805	CCAGGAGT others(30): Show CCAGGAGTCTAAGACCCCAGCCCCTCCTCCCTCAGACT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02083.hp1 others(15): Show HG00609.hp2 HG02040.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp1 HG03139.hp1 NA18522.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp1 NA18955.hp2 NA18966.hp1 NA18992.hp1 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0002g0133	18	424	0.0425	-37	c.64+ others(52): Show c.64+3885_64+3921delAGTCTGAGGGAGGAGGGGCTGGGGTCTTAG ACTCCTG	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding	1/8			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12801317	CTATCTAT others(30): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0108 a0001c0001t0032 a0001c0001t0108	a0001c0001t0032g0042 a0001c0001t0108g0020 a0001c0001t0032g0042 a0001c0001t0108g0020	2	214	0.0094	-37	c.641 others(56): Show c.641+10122_641+10158delTATCTATCTATCTATCTATCTATCTA TCTATCTATCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227061	GAAGGGGT others(30): Show GAAGGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01106.hp1 others(8): Show HG00673.hp1 HG01074.hp2 HG01106.hp1 HG01255.hp1 HG01433.hp1 HG02027.hp1 HG02602.hp1 HG02698.hp2 HG03492.hp2 HG04228.hp2 NA18995.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0003c0017 a0005c0016	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0028 a0001c0004t0008 a0001c0007t0009 a0003c0017t0002 a0005c0016t0009	a0001c0001t0002g0122 a0001c0003t0002g0042 a0001c0003t0002g0054 others(8): Show a0001c0001t0002g0122 a0001c0003t0002g0042 a0001c0003t0002g0054 a0001c0003t0002g0058 a0001c0003t0002g0064 a0001c0003t0003g0046 a0001c0003t0028g0047 a0001c0004t0008g0164 a0001c0007t0009g0086 a0003c0017t0002g0052 a0005c0016t0009g0006	11	242	0.0455	-37	c.146 others(54): Show c.1469-454_1469-418delTGGTCCCCTCACGCACCCCCATCCCCCA TGACCCCTT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227441	GTGGAAGA others(30): Show GTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0049 a0001c0003t0003g0049	1	242	0.0041	-37	c.146 others(54): Show c.1469-834_1469-798delTACCCCCTTCTGTCCCCCACACTTCCTC TGTCTTCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227513	GGGGGACA others(30): Show GGGGGACAGAGGGGGATATGGGGGACAGAGGGAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0013 a0002c0012t0013	a0002c0012t0013g0023 a0002c0012t0013g0023	1	242	0.0041	-37	c.146 others(54): Show c.1469-906_1469-870delTACACTCCCTCTGTCCCCCATATCCCCC TCTGTCCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227699	GAAGGGAC others(30): Show GAAGGGACCAAGGTGGGTGTGGGGGACAGAGGGGTATA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0031 a0002c0005t0031	a0002c0005t0031g0198 a0002c0005t0031g0198	1	242	0.0041	-37	c.146 others(56): Show c.1468+1060_1469-1056delTATACCCCTCTGTCCCCCACACCCAC CTTGGTCCCTT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44306865	AGGTGTGA others(30): Show AGGTGTGAGCAGGAGGAGGAGGGTGTGAGCAGGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	242	0.0041	-37	c.65+ others(54): Show c.65+18455_65+18491delGTCTTCCTGCTCACACCCTCCTCCTCCT GCTCACACC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181544	CACACACA others(30): Show CACACACACTCACATACAGACACAACCACACCACACAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	460	0.0022	-37	c.193 others(54): Show c.1938+231_1938+267delACTCACATACAGACACAACCACACCACA CATACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181666	ACACACAT others(30): Show ACACACATACTCACATACAGACACAACCACACCACACT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0226 a0005c0010t0001g0226	1	460	0.0022	-37	c.193 others(54): Show c.1938+353_1938+389delTACTCACATACAGACACAACCACACCAC ACTCACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181837	CACTCACA others(30): Show CACTCACATACAGACACAACCACACCACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp2 HG02965.hp1 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0287 a0007c0007t0001g0303 a0007c0007t0001g0287 a0007c0007t0001g0303	2	460	0.0044	-37	c.193 others(54): Show c.1938+520_1938+556delTCACATACAGACACAACCACACCACACA CACACATAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38743370	CAGCCCCT others(30): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG03471.hp1 HG02970.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0024t0001g0078 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0024t0001g0078	3	342	0.0088	-37	c.238 others(52): Show c.238-305_238-269delCGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGGGCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38335985	GGGGAAAG others(30): Show GGGGAAAGAGGGGAAGAGTCGTGGGAGCTGGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG01106.hp2 others(19): Show HG00673.hp2 HG00733.hp1 HG01106.hp2 HG02080.hp2 HG02109.hp1 HG03130.hp2 HG03516.hp1 HG03654.hp2 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19077.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0001c0008 a0004c0006 others(1): Show a0001c0007 a0001c0008 a0004c0006 a0004c0018	a0001c0007t0001 a0001c0008t0001 a0004c0006t0001 others(1): Show a0001c0007t0001 a0001c0008t0001 a0004c0006t0001 a0004c0018t0001	a0001c0007t0001g0006 a0001c0007t0001g0196 a0001c0007t0001g0197 others(18): Show a0001c0007t0001g0006 a0001c0007t0001g0196 a0001c0007t0001g0197 a0001c0007t0001g0198 a0001c0008t0001g0214 a0001c0008t0001g0215 a0004c0006t0001g0199 a0004c0006t0001g0200 a0004c0006t0001g0201 a0004c0006t0001g0202 a0004c0006t0001g0203 a0004c0006t0001g0204 a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0006t0001g0208 a0004c0006t0001g0209 a0004c0006t0001g0210 a0004c0006t0001g0211 a0004c0006t0001g0212 a0004c0006t0001g0213 a0004c0018t0001g0205	22	376	0.0585	-37	c.-15 others(52): Show c.-15+141_-15+177delGAGAGGAGGGAAAGAGGGGAAGAGTCGTGG GAGCTGG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAVIN4_chr9_100573079_100593389	100591571	AGAACTGC others(30): Show AGAACTGCCTTGCAGATCTAAGGCCATTGTGAAAGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	1	382	0.0026	-37	c.51 others(48): Show c.5121_*5157delGAACTGCCTTGCAGATCTAAGGCCATTGTGAAAG CTG	CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding		3183		chr9	TogoVar
CBFA2T2_chr20_33485096_33655030	33643797	ATATATAT others(30): Show ATATATATATATATATATATAGTATATAATGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0133	1	298	0.0034	-37	c.148 others(54): Show c.1489-549_1489-513delTATATATATATATATATATAGTATATAA TGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10			chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88955959	CCAAGGCT others(30): Show CCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	284	0.0035	-37	c.151 others(56): Show c.151+20661_151+20697delCTGGGGTCAGGAGCCTTGGGCGGGGT CAGGAGCCTTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88961537	CCTCAGCA others(30): Show CCTCAGCACTGGGCATTCCCACTCCATAGTAACCGACA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	284	0.0035	-37	c.151 others(56): Show c.151+15083_151+15119delTGTCGGTTACTATGGAGTGGGAATGC CCAGTGCTGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88961618	ACTGGGCA others(30): Show ACTGGGCATTCCCACTCCATAGTAACCGACACTCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp2 HG02258.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0012 a0001c0002t0003g0168 a0001c0001t0001g0012 a0001c0002t0003g0168	2	284	0.0070	-37	c.151 others(56): Show c.151+15002_151+15038delCGCTGAGTGTCGGTTACTATGGAGTG GGAATGCCCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLC_chr19_44772890_44805652	44778505	CCAGGAAC others(30): Show CCAGGAACTCAGGCCCCCACCCCCTCCTCCCTCAGACT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp2 HG02486.hp1 others(11): Show HG00738.hp2 HG02145.hp2 HG02486.hp1 HG02698.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0000 a0001 a0003 others(2): Show a0000 a0001 a0003 a0005 a0008	a0000c0002 a0000c0004 a0001c0001 others(5): Show a0000c0002 a0000c0004 a0001c0001 a0001c0006 a0001c0009 a0003c0005 a0005c0012 a0008c0019	a0000c0002t0001 a0000c0004t0001 a0001c0001t0001 others(6): Show a0000c0002t0001 a0000c0004t0001 a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0003c0005t0001 a0005c0012t0001 a0008c0019t0001	a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0004t0001g0058 others(11): Show a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0004t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0006t0001g0062 a0001c0009t0001g0065 a0001c0009t0002g0064 a0003c0005t0001g0066 a0005c0012t0001g0059 a0005c0012t0001g0061 a0008c0019t0001g0060	14	344	0.0407	-37	c.353 others(52): Show c.353+226_353+262delAACTCAGGCCCCCACCCCCTCCTCCCTCAG ACTCAGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44778807	AGGCCCCA others(30): Show AGGCCCCAGCCCCTCCTCCCTCAGACCCAGAAACTCAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp2 HG02258.hp1 others(13): Show HG00738.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02698.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0003 a0005 a0008	a0000c0002 a0000c0004 a0001c0001 others(6): Show a0000c0002 a0000c0004 a0001c0001 a0001c0006 a0001c0009 a0002c0003 a0003c0005 a0005c0012 a0008c0019	a0000c0002t0001 a0000c0004t0001 a0001c0001t0001 others(7): Show a0000c0002t0001 a0000c0004t0001 a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0002c0003t0001 a0003c0005t0001 a0005c0012t0001 a0008c0019t0001	a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0004t0001g0058 others(13): Show a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0004t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0006t0001g0062 a0001c0009t0001g0065 a0001c0009t0001g0073 a0001c0009t0002g0064 a0002c0003t0001g0074 a0003c0005t0001g0066 a0005c0012t0001g0059 a0005c0012t0001g0061 a0008c0019t0001g0060	16	344	0.0465	-37	c.353 others(52): Show c.353+525_353+561delGCCCCAGCCCCTCCTCCCTCAGACCCAGAA ACTCAGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44782021	AGGGTCTG others(30): Show AGGGTCTGAGGGAGGAGGGGCTGGAGACCTGGACTCCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	344	0.0029	-37	c.658 others(52): Show c.658-312_658-276delTGGGTCTGAGGGAGGAGGGGCTGGAGACCT GGACTCC	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCBE1_chr18_59425939_59702423	59658345	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp2 HG03540.hp2 others(1): Show HG03195.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0040	a0001c0001t0001g0159 a0001c0001t0003g0239 a0001c0001t0017g0163 others(1): Show a0001c0001t0001g0159 a0001c0001t0003g0239 a0001c0001t0017g0163 a0001c0001t0040g0237	4	242	0.0165	-37	c.212 others(56): Show c.212+38247_212+38283delATATATATATATATATATATATATAT ATTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658349	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0001 a0002c0002t0018g0001	1	242	0.0041	-37	c.212 others(56): Show c.212+38243_212+38279delATATATATATATATATATATATATAT ATATATTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658355	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0090 a0001c0001t0014g0090	1	242	0.0041	-37	c.212 others(56): Show c.212+38237_212+38273delATATATATATATATATATATATATAT ATATATATATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658380	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0156 a0001c0003t0062g0156	1	242	0.0041	-37	c.212 others(56): Show c.212+38212_212+38248delTATATATATATATATATATATATATA TATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC116_chr22_21627760_21642329	21641331	CCAGAGCT others(30): Show CCAGAGCTATTTGCTCTGTGACCCCACAGGATCTGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	394	0.0025	-37	c.42 others(48): Show c.4262_*4298delCAGAGCTATTTGCTCTGTGACCCCACAGGATCTG GAG	CCDC116	ENSG00000161180.11	transcript	ENST00000292779.4	protein_coding		4003		chr22	TogoVar
CCDC141_chr2_178824757_179055137	179015067	GATATATA others(30): Show GATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	274	0.0037	-37	c.225 others(56): Show c.225+32180_225+32216delTATATATATATATATATATATATATA TATATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC195_chr2_224698764_224721365	224717234	TTAAATAG others(30): Show TTAAATAGCATATGCCCTGATAGCAATATCTGTTTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0194 a0001c0001t0000g0194	1	412	0.0024	-37	c.-90 others(46): Show c.-906_-870delTCCAAACAGATATTGCTATCAGGGCATATGCTATTT A	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding		870		chr2	TogoVar

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