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
BABAM2_chr2_27885729_28343901	28112181	C C	CCCTTCCT others(36): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	158	0.0063	43	c.571 others(62): Show c.571-17087_571-17086insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(36): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	158	0.0063	43	c.571 others(62): Show c.571-17075_571-17074insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41249242	C C	CCCCCACA others(36): Show CCCCCACATGTACACTTGGCCTCAGGGGACTCAGGATTAGTGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp2 HG04228.hp1 others(1): Show HG02683.hp1 HG02738.hp2 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0026 a0001c0002t0001 a0001c0002t0023 a0001c0002t0026	a0001c0002t0001g0048 a0001c0002t0023g0094 a0001c0002t0023g0176 others(1): Show a0001c0002t0001g0048 a0001c0002t0023g0094 a0001c0002t0023g0176 a0001c0002t0026g0052	4	272	0.0147	43	c.985 others(60): Show c.985-1474_985-1432dupTTAGTGAGCCCCACATGTACACTTGGCC TCAGGGGACTCAGGA	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BAHCC1_chr17_81390457_81471331	81425209	T T	TGCTGGGT others(36): Show TGCTGGGTGATGTGGTTGGTGATGATGGTGGGTGATGTGGTTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(38): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18962.hp2 NA18971.hp1 NA19005.hp2 NA19007.hp2 NA19088.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0015 a0031 a0039	a0001c0003 a0001c0007 a0001c0010 others(20): Show a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0001c0026 a0001c0051 a0001c0086 a0001c0101 a0002c0001 a0002c0044 a0002c0076 a0003c0002 a0004c0037 a0005c0005 a0005c0028 a0006c0020 a0007c0008 a0007c0048 a0008c0024 a0008c0029 a0015c0014 a0031c0091 a0039c0058	a0001c0003t0003 a0001c0007t0033 a0001c0010t0001 others(22): Show a0001c0003t0003 a0001c0007t0033 a0001c0010t0001 a0001c0012t0002 a0001c0026t0003 a0001c0051t0001 a0001c0086t0003 a0001c0101t0010 a0002c0001t0001 a0002c0044t0001 a0002c0076t0001 a0003c0002t0001 a0003c0002t0004 a0004c0037t0014 a0005c0005t0012 a0005c0028t0001 a0006c0020t0002 a0007c0008t0001 a0007c0048t0002 a0008c0024t0001 a0008c0029t0005 a0008c0029t0021 a0015c0014t0001 a0031c0091t0001 a0039c0058t0017	a0001c0003t0003g0053 a0001c0003t0003g0110 a0001c0003t0003g0302 others(37): Show a0001c0003t0003g0053 a0001c0003t0003g0110 a0001c0003t0003g0302 a0001c0007t0033g0135 a0001c0010t0001g0034 a0001c0012t0002g0112 a0001c0026t0003g0247 a0001c0051t0001g0288 a0001c0086t0003g0031 a0001c0101t0010g0020 a0002c0001t0001g0109 a0002c0001t0001g0321 a0002c0001t0001g0324 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0044t0001g0164 a0002c0076t0001g0303 a0003c0002t0001g0124 a0003c0002t0001g0213 a0003c0002t0004g0122 a0003c0002t0004g0123 a0003c0002t0004g0310 a0004c0037t0014g0256 a0005c0005t0012g0204 a0005c0005t0012g0206 a0005c0005t0012g0207 a0005c0028t0001g0069 a0006c0020t0002g0238 a0006c0020t0002g0325 a0007c0008t0001g0005 a0007c0008t0001g0021 a0007c0008t0001g0309 a0007c0008t0001g0312 a0007c0048t0002g0308 a0008c0024t0001g0306 a0008c0029t0005g0066 a0008c0029t0021g0311 a0015c0014t0001g0001 a0031c0091t0001g0042 a0039c0058t0017g0191	41	332	0.1235	43	c.179 others(60): Show c.179-1590_179-1589insCTGGGTGATGTGGTTGGTGATGATGGTG GGTGATGTGGTTGGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425209	T T	TGGTGGGT others(36): Show TGGTGGGTGATGTGGTTGGTGATGATGGTGGGTGATGTGGTTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02886.hp1 others(5): Show HG02451.hp1 HG02630.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03486.hp1 NA18963.hp2 NA18983.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0017	a0001c0007 a0001c0019 a0001c0069 others(4): Show a0001c0007 a0001c0019 a0001c0069 a0002c0001 a0005c0096 a0007c0008 a0017c0023	a0001c0007t0009 a0001c0007t0016 a0001c0019t0003 others(5): Show a0001c0007t0009 a0001c0007t0016 a0001c0019t0003 a0001c0069t0007 a0002c0001t0001 a0005c0096t0005 a0007c0008t0001 a0017c0023t0038	a0001c0007t0009g0014 a0001c0007t0016g0161 a0001c0019t0003g0315 others(5): Show a0001c0007t0009g0014 a0001c0007t0016g0161 a0001c0019t0003g0315 a0001c0069t0007g0253 a0002c0001t0001g0274 a0005c0096t0005g0199 a0007c0008t0001g0257 a0017c0023t0038g0027	8	332	0.0241	43	c.179 others(60): Show c.179-1589_179-1588insTGGGTGATGTGGTTGGTGATGATGGTGG GTGATGTGGTTGGGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(36): Show ACACACACACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	398	0.0025	43	c.194 others(60): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACCCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591657	C C	CACACACA others(36): Show CACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0179 a0001c0001t0011g0179	1	398	0.0025	43	c.194 others(60): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7			chr7	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	458	0.0022	43	c.-43 others(54): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BFSP2_chr3_133395056_133480208	133426004	G G	GGCAGGGC others(36): Show GGCAGGGCAGGAAAAGGGAAGGGAAAGGGAAGGAAAGGGAAAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	276	0.0036	43	c.490 others(62): Show c.490-21313_490-21312insGCAGGGCAGGAAAAGGGAAGGGAAAG GGAAGGAAAGGGAAAGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCTGCGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	312	0.0032	43	c.228 others(62): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGTGTGTGCGCG CGCGCGCGCGCTGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0003 a0001c0006t0003g0003	1	274	0.0037	43	c.142 others(62): Show c.14260-329_14260-328insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(36): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(52): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01981.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA19003.hp2 NA19009.hp2 NA19043.hp2 NA19064.hp2 NA19074.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0036 others(52): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0002g0310 a0001c0001t0003g0249	55	314	0.1752	43	c.-26 others(64): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13288399	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp1 others(3): Show HG02055.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0153 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214	6	314	0.0191	43	c.-26 others(64): Show c.-263+10494_-263+10495insCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMPER_chr7_33900539_34161427	34129618	G G	GAGAAAGA others(36): Show GAGAAAGAGAGAGAGAGAGAAAGAGAGAAAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	232	0.0043	43	c.174 others(64): Show c.1746-13609_1746-13608insAAGAGAGAGAGAGAGAAAGAGAGA AAGAGAGAAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0061 a0001c0002t0028g0061	1	278	0.0036	43	c.-26 others(64): Show c.-267-14753_-267-14752insGTGTGTGTGTGTGTGTTGTGTGTG TGTGTGTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BPGM_chr7_134641853_134684816	134667396	T T	TTATGTGG others(36): Show TTATGTGGTTACCTCACTATAAAAATATTGAGCTGGGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	362	0.0028	43	c.601 others(60): Show c.601+5290_601+5332dupATGTGGTTACCTCACTATAAAAATATTG AGCTGGGTGTGGGGT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BRF1_chr14_105204286_105306001	105206876	G G	GGATTGTG others(36): Show GGATTGTGGGCAGGCATGGCAGCCCCTCTACAGTTGGGGTACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(20): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(20): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0007g0071 a0001c0001t0008g0070 a0001c0001t0010g0002 a0001c0001t0011g0027	23	72	0.3194	43	c.36 others(54): Show c.3674_*3675insTTGTACCCCAACTGTAGAGGGGCTGCCATGCCTG CCCACAATC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding		2409		chr14	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGGGTG others(36): Show GGGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	306	0.0033	43	c.-18 others(54): Show c.-1863_-1862insGGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGG GGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570794	A A	AGGGGTGA others(36): Show AGGGGTGAGTGGGGGGGCGGAGGGGTGGGTTGGGAGGGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	306	0.0033	43	c.-18 others(54): Show c.-1841_-1840insGGGGTGAGTGGGGGGGCGGAGGGGTGGGTTGGGA GGGGCGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1801		chr19	TogoVar
BTBD1_chr15_83011423_83072252	83032969	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	328	0.0031	43	c.863 others(60): Show c.863-2642_863-2641insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BYSL_chr6_41916499_41938046	41931131	T T	TAGCAGAA others(36): Show TAGCAGAATCGAGAGGAGTCGTGATAGCAAGAGGAAGGAGAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(90): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01891.hp1 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18972.hp1 NA18977.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19030.hp2 NA19054.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0010 a0011 a0012	a0001c0001 a0001c0012 a0002c0002 others(5): Show a0001c0001 a0001c0012 a0002c0002 a0003c0004 a0006c0011 a0010c0009 a0011c0008 a0012c0016	a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 a0002c0002t0001 a0003c0004t0001 a0006c0011t0001 a0010c0009t0001 a0011c0008t0001 a0012c0016t0005	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0003g0003 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0012t0001g0014 a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0075 a0003c0004t0001g0017 a0006c0011t0001g0014 a0010c0009t0001g0003 a0011c0008t0001g0025 a0012c0016t0005g0105	93	464	0.2004	43	c.705 others(58): Show c.705-265_705-264insAGCAGAATCGAGAGGAGTCGTGATAGCAAG AGGAAGGAGAGTA	BYSL	ENSG00000112578.10	transcript	ENST00000230340.9	protein_coding	4/6			chr6	TogoVar
C11orf71_chr11_114393532_114405511	114394174	G G	GTTTCTTT others(36): Show GTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	43	c.57 others(54): Show c.5785_*5786insAGAAAAGAAAAGAAAAGAAAAGAAGAAAAGAAAA GAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4357		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653585	C C	CTTCTTCT others(36): Show CTTCTTCTTCTTTTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18975.hp1 NA19087.hp2 NA18940.hp1 NA18975.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0063	3	360	0.0083	43	c.686 others(60): Show c.686+3237_686+3238insTTCTTTTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTTTTCTTC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(36): Show TTTTATATATATATATATTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp1 HG02602.hp2 others(5): Show HG01358.hp1 HG01433.hp1 HG02602.hp2 HG02738.hp2 HG03704.hp1 NA18961.hp2 NA18972.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0094 a0001c0001t0001g0145 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0145 a0001c0001t0001g0218 a0001c0001t0001g0312 a0001c0001t0001g0354 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0009g0162	8	441	0.0181	43	c.750 others(58): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATATATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361691	T T	TTATATAT others(36): Show TTATATATAATTATATTATATATAATATATAATATAATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19082.hp1 NA19062.hp2 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0039 a0002c0003t0017g0039	2	372	0.0054	43	c.52 others(54): Show c.5244_*5245insTATATATAATTATATTATATATAATATATAATAT AATTATATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2503		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361702	T T	TTATATTA others(36): Show TTATATTATAATTATATATAATATAATTATATATTTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0211 a0004c0005t0004g0211	1	372	0.0027	43	c.52 others(54): Show c.5255_*5256insTATATTATAATTATATATAATATAATTATATATT TATATATAA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2514		chr18	TogoVar
C1QTNF12_chr1_1237453_1251722	1240648	T T	TCATTCAC others(36): Show TCATTCACCCCGGCCGTGGTCCCTGCCCCAGCCCCCGCCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18956.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18983.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0009	a0000c0022 a0001c0001 a0001c0013 others(4): Show a0000c0022 a0001c0001 a0001c0013 a0001c0019 a0002c0002 a0003c0004 a0009c0017	a0000c0022t0005 a0001c0001t0001 a0001c0013t0001 others(4): Show a0000c0022t0005 a0001c0001t0001 a0001c0013t0001 a0001c0019t0001 a0002c0002t0002 a0003c0004t0004 a0009c0017t0001	a0000c0022t0005g0034 a0001c0001t0001g0001 a0001c0001t0001g0002 others(33): Show a0000c0022t0005g0034 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0013t0001g0054 a0001c0019t0001g0114 a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0106 a0003c0004t0004g0115 a0009c0017t0001g0038	105	328	0.3201	43	c.18 others(54): Show c.1899_*1900insGGGGCGGCGGGGGCTGGGGCAGGGACCACGGCCG GGGTGAATG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1804		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1240684	G G	GCCGCCCC others(36): Show GCCGCCCCCATTCACCCCGGCCGTGGTCCCTGCCCCAGCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG00738.hp2 others(39): Show HG00597.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA19067.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0006c0005 a0007c0006 a0008c0008 a0012c0023	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0004c0003t0001 a0006c0005t0001 a0007c0006t0001 a0008c0008t0001 a0012c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0002c0002t0001g0007 a0002c0002t0001g0020 a0002c0002t0001g0044 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0002g0003 a0003c0004t0001g0090 a0003c0004t0001g0091 a0004c0003t0001g0022 a0004c0003t0001g0087 a0004c0003t0001g0092 a0004c0003t0001g0095 a0006c0005t0001g0026 a0006c0005t0001g0112 a0007c0006t0001g0012 a0008c0008t0001g0027 a0008c0008t0001g0028 a0012c0023t0001g0117	42	328	0.1281	43	c.18 others(54): Show c.1863_*1864insTGGGGGCTGGGGCAGGGACCACGGCCGGGGTGAA TGGGGGCGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1768		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1240684	G G	GCCGCCCC others(36): Show GCCGCCCCCATTCACCCCGGCCGTGGTCCCTGCCGCAGCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01074.hp2 others(12): Show HG00140.hp2 HG00735.hp2 HG01074.hp2 HG01928.hp1 HG01934.hp1 HG02135.hp2 HG02523.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 NA18747.hp1 NA19004.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0020 others(3): Show a0001c0001 a0002c0002 a0002c0020 a0002c0021 a0003c0012 a0003c0018	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0020t0007 a0002c0021t0002 a0003c0012t0002 a0003c0018t0001	a0001c0001t0001g0002 a0002c0002t0002g0003 a0002c0002t0002g0025 others(8): Show a0001c0001t0001g0002 a0002c0002t0002g0003 a0002c0002t0002g0025 a0002c0002t0002g0086 a0002c0002t0002g0094 a0002c0002t0008g0107 a0002c0020t0007g0097 a0002c0021t0002g0098 a0003c0012t0002g0110 a0003c0012t0002g0111 a0003c0018t0001g0085	15	328	0.0457	43	c.18 others(54): Show c.1863_*1864insTGGGGGCTGCGGCAGGGACCACGGCCGGGGTGAA TGGGGGCGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1768		chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTATATA others(36): Show TTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	452	0.0022	43	c.57- others(58): Show c.57-2039_57-2038insTATATATATATATATATATATATATATATA TATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf226_chr1_162376728_162391812	162382401	A A	AGCTGAAG others(36): Show AGCTGAAGGTTGCTGAGTGCCCACCATGTCCTCGGCTCTGTGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(83): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18970.hp1 NA18971.hp1 NA18976.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19078.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(11): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030	a0001c0001t0004g0003 a0001c0001t0004g0019 a0001c0001t0008g0006 others(12): Show a0001c0001t0004g0003 a0001c0001t0004g0019 a0001c0001t0008g0006 a0001c0001t0009g0010 a0001c0001t0020g0003 a0001c0001t0021g0003 a0001c0001t0022g0003 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0001t0025g0003 a0001c0001t0026g0003 a0001c0001t0027g0003 a0001c0001t0028g0003 a0001c0001t0029g0003 a0001c0001t0030g0003	86	474	0.1814	43	c.317 others(58): Show c.317+203_317+245dupCCACCATGTCCTCGGCTCTGTGCTGCTGAA GGTTGCTGAGTGC	C1orf226	ENSG00000239887.6	transcript	ENST00000458626.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
C22orf42_chr22_32144006_32164303	32146518	A A	ATATAATA others(36): Show ATATAATATATAACATATATTATATATTATATATAATCATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG03139.hp1 others(2): Show HG01192.hp2 HG01884.hp2 HG03139.hp1 HG03209.hp2 HG03704.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0006 a0005c0008t0002 a0002c0002t0006 a0005c0008t0002	a0002c0002t0006g0048 a0005c0008t0002g0047 a0005c0008t0002g0122 others(1): Show a0002c0002t0006g0048 a0005c0008t0002g0047 a0005c0008t0002g0122 a0005c0008t0002g0123	5	398	0.0126	43	c.30 others(54): Show c.3021_*3022insATATATGATTATATATAATATATAATATATGTTA TATATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2487		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	398	0.0025	43	c.16 others(54): Show c.1637_*1638insAAAAAAAAAAATATATATATATATATATATATAT ATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0004 a0002c0007t0002 a0002c0002t0004 a0002c0007t0002	a0002c0002t0004g0057 a0002c0007t0002g0050 a0002c0002t0004g0057 a0002c0007t0002g0050	2	398	0.0050	43	c.16 others(54): Show c.1637_*1638insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(36): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	396	0.0025	43	c.280 others(60): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0338 a0001c0001t0004g0338	1	396	0.0025	43	c.280 others(60): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2orf78_chr2_73779183_73822148	73810775	A A	AAATATAC others(36): Show AAATATACATGTATATTTTATATATATAATATACATGTATAATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0169 a0010c0012t0001g0169	1	212	0.0047	43	c.98- others(58): Show c.98-2688_98-2646dupATTTTATATATATAATATACATGTATAATT AATATACATGTAT	C2orf78	ENSG00000187833.8	transcript	ENST00000409561.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4BPB_chr1_207083860_207104993	207085624	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	388	0.0026	43	c.-33 others(54): Show c.-3373_-3372insTATATATATATATATATATATATATATATATATA TATATATAT	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3235		chr1	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	358	0.0028	43	c.715 others(60): Show c.715-1621_715-1620insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5orf52_chr5_157666533_157685158	157668643	G G	GAAGAAGT others(36): Show GAAGAAGTGAGAGATAAGGATCAGATACCAAGATAAATAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	418	0.0024	43	c.-29 others(54): Show c.-2972_-2971insAAGAAGTGAGAGATAAGGATCAGATACCAAGATA AATAGAGGA	C5orf52	ENSG00000187658.7	transcript	ENST00000409999.4	protein_coding		2889		chr5	TogoVar
C6orf89_chr6_36880952_36933964	36883847	C C	CACAACAG others(36): Show CACAACAGACTTTAAATTCTCCTTTGAAAATTATACTAAGTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	396	0.0025	43	c.-23 others(54): Show c.-2301_-2300insACAACAGACTTTAAATTCTCCTTTGAAAATTATA CTAAGTAAT	C6orf89	ENSG00000198663.17	transcript	ENST00000480824.7	protein_coding		2104		chr6	TogoVar
C7orf50_chr7_992006_1143247	1016765	A A	ACAGCAGC others(36): Show ACAGCAGCACACAGCAGCGCACAGCAGCACACAGCAGCGCACGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	326	0.0031	43	c.130 others(60): Show c.130-6623_130-6622insGCGTGCGCTGCTGTGTGCTGCTGTGCGC TGCTGTGTGCTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1059740	G G	GGTCCGTA others(36): Show GGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG00741.hp1 others(70): Show HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA19000.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19082.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0003c0004t0002 a0005c0007t0008	a0001c0001t0001g0010 a0001c0001t0002g0208 a0001c0001t0002g0209 others(70): Show a0001c0001t0001g0010 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0286 a0001c0001t0002g0318 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0263 a0001c0001t0005g0204 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0007g0118 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0010g0119 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0015g0225 a0001c0001t0016g0100 a0001c0001t0025g0165 a0001c0001t0026g0175 a0001c0001t0027g0193 a0001c0001t0029g0224 a0001c0001t0030g0326 a0003c0004t0002g0230 a0005c0007t0008g0164	73	326	0.2239	43	c.130 others(62): Show c.130-49598_130-49597insTCGCCCCACTACGGACCCACCTAAGA CCTGCCTCACTACGGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(36): Show TCCTTCCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18953.hp1 HG01934.hp2 NA18953.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0278 a0002c0001t0002g0311 a0002c0001t0002g0278 a0002c0001t0002g0311	2	404	0.0050	43	c.606 others(58): Show c.606-891_606-890insCCTTCCTTTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8orf33_chr8_145047467_145061030	145052307	G G	GCGCCCCG others(36): Show GCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCCGCCCGCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	406	0.0025	43	c.-18 others(52): Show c.-185_-184insCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCCGCC CGCTCCC	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		159		chr8	TogoVar
CA10_chr17_51625320_52163714	51839505	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAGGAAGCAAGACTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0097 a0001c0001t0003g0098 a0001c0001t0001g0097 a0001c0001t0003g0098	2	156	0.0128	43	c.279 others(62): Show c.279+91484_279+91485insGAGAAGGAGTCTTGCTTCCTTTTTTT TTTTTTTTTTTTTTTTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CAAP1_chr9_26835685_26897802	26872573	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	372	0.0027	43	c.666 others(62): Show c.666-11435_666-11434insTATATATATATATATATATATATATA TATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(36): Show GATATATATATATATATATATGCTAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 NA19000.hp1 HG02280.hp2 HG02886.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0009 a0001c0001t0006g0260 a0001c0002t0001g0150 a0001c0001t0003g0009 a0001c0001t0006g0260 a0001c0002t0001g0150	3	324	0.0093	43	c.565 others(60): Show c.565-1863_565-1862insATATATATATATATATATCTAGCATATA TATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABYR_chr18_24134062_24166600	24158330	T T	TTTTTTGA others(36): Show TTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03942.hp1 HG04115.hp1 HG03239.hp2 HG03942.hp1 HG04115.hp1	a0001 a0001	a0001c0008 a0001c0043 a0001c0008 a0001c0043	a0001c0008t0001 a0001c0043t0001 a0001c0008t0001 a0001c0043t0001	a0001c0008t0001g0134 a0001c0008t0001g0135 a0001c0043t0001g0142 a0001c0008t0001g0134 a0001c0008t0001g0135 a0001c0043t0001g0142	3	408	0.0074	43	c.542 others(60): Show c.542-1141_542-1099dupTTTTTGAGACGGAGTTTTGCTCTTGTTG CCCAGGCTGGAGTGC	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(36): Show AGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGCGGCGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01106.hp1 others(17): Show HG01069.hp2 HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG03669.hp2 HG03688.hp2 NA18940.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18971.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19058.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0024 a0001c0001t0033	a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0040 others(6): Show a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0009g0004 a0001c0001t0009g0038 a0001c0001t0009g0041 a0001c0001t0024g0004 a0001c0001t0033g0039	20	420	0.0476	43	c.121 others(58): Show c.121+295_121+296insCGGGGGCGGGGGGGCGGCGGGGGCGGGGGG GCGGCGGGGGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar

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