Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHL1_chr3_191763_414417	309392	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0009 a0003c0003t0004g0009	1	239	0.0042	37	c.-94 others(56): Show c.-94-10290_-94-10289insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP3_chr2_86498430_86568443	86549221	A A	AGGGCGGC others(30): Show AGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0267 a0001c0002t0004g0268 a0001c0002t0004g0267 a0001c0002t0004g0268	2	326	0.0061	37	c.46- others(52): Show c.46-6910_46-6909insCGTCTGGGAGGTGAGGAGCGCCTCTGCCCG GCCGCCC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP3_chr2_86498430_86568443	86549247	G G	GCCTCCCA others(30): Show GCCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp2 others(45): Show HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0016 a0001c0002t0020	a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0159 others(37): Show a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0018g0161 a0001c0002t0001g0024 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0003g0005 a0001c0002t0003g0032 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0264 a0001c0002t0004g0266 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0273 a0001c0002t0004g0275 a0001c0002t0004g0278 a0001c0002t0004g0289 a0001c0002t0009g0274 a0001c0002t0009g0276 a0001c0002t0016g0155 a0001c0002t0020g0277	48	332	0.1446	37	c.46- others(52): Show c.46-6936_46-6935insTGAGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGG	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	113	0.0088	37	c.83 others(48): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAGAA others(30): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	45	0.0222	37	c.116 others(56): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	17	0.0588	37	c.116 others(56): Show c.1166+6174_1166+6175insATATATATATATATATATATATATAT ATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174870694	T T	TAAGCTAC others(30): Show TAAGCTACCAGAGTTGATTCCTTTTGAAAAGTTTGATG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	274	0.0036	37	c.549 others(54): Show c.549+7109_549+7145dupCATCAAACTTTTCAAAAGGAATCAACTC TGGTAGCTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01433.hp1 HG01934.hp2 others(4): Show HG01169.hp2 HG01433.hp1 HG01934.hp2 HG01978.hp2 HG02132.hp1 HG02486.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0002 a0003c0003t0001g0018 a0001c0001t0001g0002 a0003c0003t0001g0018	7	301	0.0233	37	c.18 others(48): Show c.1840_*1841insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		489		chr16	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(30): Show GTATATATATATATATATATATATATACACAGTATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	53	0.0189	37	c.-19 others(56): Show c.-19-33122_-19-33121insCACAGTATATATATATATATATATAT ATATATATATA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(30): Show GTATATATATATATATATATATATATATACACAGTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp2 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0075 a0001c0001t0015g0095 a0001c0001t0015g0075 a0001c0001t0015g0095	2	54	0.0370	37	c.-19 others(56): Show c.-19-33120_-19-33119insCACAGTATATATATATATATATATAT ATATATATATA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(30): Show GTATATATATATATATATATATATCTATATACACAGTA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	53	0.0189	37	c.-19 others(56): Show c.-19-33125_-19-33124insCTATATACACAGTATATATATATATA TATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(30): Show GTATATATATATATATATATATCTATATACACAGTATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp1 HG03927.hp1 others(1): Show HG01255.hp1 HG01981.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 others(1): Show a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030	a0001c0001t0010g0031 a0001c0001t0023g0007 a0001c0001t0025g0097 others(1): Show a0001c0001t0010g0031 a0001c0001t0023g0007 a0001c0001t0025g0097 a0001c0001t0030g0023	4	56	0.0714	37	c.-19 others(56): Show c.-19-33127_-19-33126insCTATATACACAGTATATATATATATA TATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63351161	A A	ATCCACGT others(30): Show ATCCACGTCCCACGCCCACATCCACACCCATGCCCACG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp1 HG00597.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0019 a0001c0005t0001 a0001c0005t0019	a0001c0005t0001g0106 a0001c0005t0019g0050 a0001c0005t0001g0106 a0001c0005t0019g0050	2	166	0.0120	37	c.384 others(52): Show c.384-135_384-134insCGTGGGCATGGGTGTGGATGTGGGCGTGGG ACGTGGA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359907	G G	GTGTGTGT others(30): Show GTGTGTGTGTGCCGGGCGTGCGCGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02698.hp2 HG03492.hp1 others(2): Show HG00323.hp2 HG02698.hp2 HG03492.hp1 HG03688.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0011 a0001c0001t0012 a0002c0006t0014 a0001c0001t0011 a0001c0001t0012 a0002c0006t0014	a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0012g0036 others(2): Show a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0012g0036 a0001c0001t0012g0037 a0002c0006t0014g0139	5	158	0.0316	37	c.77- others(50): Show c.77-209_77-208insGCGCACGCCCGGCACGCGCACGCCCGGCACAC ACACA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	167	0.0060	37	c.53- others(52): Show c.53-5281_53-5280insAAAAAAAAATATATATATATATATATATAT ATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0192 a0001c0001t0002g0193	2	168	0.0119	37	c.53- others(52): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT ATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	16	0.0625	37	c.249 others(54): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CIB2_chr15_78099606_78136445	78109727	A A	AGCAGGAG others(30): Show AGCAGGAGATCGGCCTTGGACGGGGAGACGTGAGACCG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	388	0.0026	37	c.199 others(52): Show c.199-346_199-345insCGGTCTCACGTCTCCCCGTCCAAGGCCGAT CTCCTGC	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	3/5			chr15	TogoVar
CILP_chr15_65189760_65216473	65210314	G G	GAGCATAG others(30): Show GAGCATAGGCATAGGAAAGATCAAGGAGCCCAATAGAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0141 a0001c0001t0012g0141	1	330	0.0030	37	c.-10 others(54): Show c.-106-454_-106-453insTTCTATTGGGCTCCTTGATCTTTCCTAT GCCTATGCT	CILP	ENSG00000138615.6	transcript	ENST00000261883.6	protein_coding	1/8			chr15	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(30): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	117	0.0085	37	c.232 others(54): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIR1_chr2_174343022_174400712	174354538	A A	AATATATA others(30): Show AATATATATTATATTATATATATTTTATATATTATATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02027.hp1 others(36): Show HG00558.hp2 HG00673.hp2 HG02027.hp1 HG02080.hp1 HG02523.hp1 HG03704.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19076.hp2 NA19078.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0019 others(27): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0085 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0300 a0001c0001t0002g0301	39	345	0.1130	37	c.485 others(54): Show c.485-2850_485-2814dupAATATAATATATAAAATATATATAATAT AATATATAT	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CIR1_chr2_174343022_174400712	174354575	T T	TATATATA others(30): Show TATATATATTATATTATATATATTTTATATATTATATG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18954.hp2 NA18963.hp1 others(2): Show NA18942.hp2 NA18954.hp2 NA18963.hp1 NA18977.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0184 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0184 a0001c0001t0002g0185	5	342	0.0146	37	c.485 others(54): Show c.485-2851_485-2850insCATATAATATATAAAATATATATAATAT AATATATAT	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CIROP_chr14_23094062_23109989	23108266	T T	TGGCCAGG others(30): Show TGGCCAGGCAGAGGTGCTCCTCACTTCCCAGACGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0002 a0004c0038t0002	a0004c0038t0002g0063 a0004c0038t0002g0063	1	440	0.0023	37	c.-33 others(48): Show c.-3347_-3346insGCCCCGTCTGGGAAGTGAGGAGCACCTCTGCCTG GCC	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding		3278		chr14	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18960.hp1 HG03927.hp2 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0002 a0001c0017t0003 a0001c0002t0002 a0001c0017t0003	a0001c0002t0002g0002 a0001c0017t0003g0064 a0001c0002t0002g0002 a0001c0017t0003g0064	2	137	0.0146	37	c.14 others(48): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	152	0.0066	37	c.270 others(54): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	37	c.-80 others(46): Show c.-805_-804insATATATATATATATATTTTTTTTTTTTTTTTTTTTT T	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLK2_chr1_155257868_155278504	155274376	C C	CAAAAAAA others(30): Show CAAAAAAAGAAAAAAAAAAAAAGCGAGACTCTGTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	193	0.0052	37	c.-11 others(48): Show c.-1177_-1176insTGAGACAGAGTCTCGCTTTTTTTTTTTTTCTTTT TTT	CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding		873		chr1	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(30): Show CCTTCCTTCCTTCTTTCTTCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0054 a0002c0002t0012g0054	1	15	0.0667	37	c.602 others(54): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAGAAGAAAGAA GGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTTCCT others(30): Show CCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	15	0.0667	37	c.602 others(54): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLPB_chr11_72280495_72439531	72377649	A A	AAAGGGAA others(30): Show AAAGGGAAGGGAAGGGGAAGGAAGGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	162	0.0062	37	c.646 others(54): Show c.646+2631_646+2632insCCCTTCCCCTTCCCCTTCCTTCCCCTTC CCTTCCCTT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	4/16			chr11	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18960.hp1 HG00423.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0002g0159 a0001c0001t0001g0161 a0001c0001t0002g0159	2	295	0.0068	37	c.253 others(54): Show c.253+3142_253+3143insATATATATATATATATATATATATATAT ATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	294	0.0034	37	c.253 others(54): Show c.253+3142_253+3143insAAATATATATATATATATATATATATAT ATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01358.hp2 HG01109.hp2 HG01167.hp2 HG01358.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0007 a0001c0003t0019 a0002c0002t0027 a0001c0001t0007 a0001c0003t0019 a0002c0002t0027	a0001c0001t0007g0084 a0001c0003t0019g0062 a0002c0002t0027g0058 a0001c0001t0007g0084 a0001c0003t0019g0062 a0002c0002t0027g0058	3	7	0.4286	37	c.109 others(56): Show c.109+62873_109+62874insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMIP_chr16_81439808_81716762	81704535	G G	GCCCACTC others(30): Show GCCCACTCACCCTCCTCCCTGCCCCCTCACCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	262	0.0038	37	c.209 others(54): Show c.2091+485_2091+486insCACCCACTCACCCTCCTCCCTGCCCCCT CACCCCCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNBD1_chr8_86861415_87387859	87238051	G G	GGGCTGTT others(30): Show GGGCTGTTTCTTGATTGAATTTCTAGTAGTTGAATCCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02280.hp1 others(13): Show HG01069.hp1 HG01243.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0023 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0002g0003 a0001c0001t0002g0069 a0001c0001t0004g0116 a0003c0003t0002g0007	16	152	0.1053	37	c.771 others(52): Show c.771+943_771+944insGTTTCTTGATTGAATTTCTAGTAGTTGAAT CCAGGCT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87352478	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	39	0.0256	37	c.115 others(54): Show c.1152+702_1152+703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP2_chr18_74491363_74528454	74514554	T T	TGGATGTA others(30): Show TGGATGTAAGTTCTGCAGGCTATAGGTTTATGTGGTAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19001.hp1 HG03704.hp1 NA19001.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0006t0002g0066 a0002c0006t0002g0081	2	421	0.0048	37	c.903 others(52): Show c.903+852_903+853insGCTATAGGTTTATGTGGTACGGATGTAAGT TCTGCAG	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74514629	G G	GGATGTAA others(30): Show GGATGTAAGTTCCGCAGGCTGTGGGTTTATGCGGTACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp2 others(25): Show HG00099.hp2 HG00280.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG01978.hp2 HG02074.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 NA18953.hp2 NA19063.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0029 a0001c0001t0038 a0001c0003t0002 a0001c0003t0009 a0001c0005t0002 a0001c0017t0002	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179 others(21): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0276 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0062 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0008g0174 a0001c0001t0010g0075 a0001c0001t0016g0013 a0001c0001t0029g0157 a0001c0001t0038g0148 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0009g0061 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0017t0002g0073	28	422	0.0664	37	c.903 others(52): Show c.903+921_903+922insCGCAGGCTGTGGGTTTATGCGGTACAGATG TAAGTTC	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTTT others(30): Show TTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0278 a0001c0003t0001g0278	1	168	0.0060	37	c.43 others(48): Show c.4376_*4377insGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAA AGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTCTT others(30): Show TCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	274	0.0036	37	c.43 others(48): Show c.4375_*4376insGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAAGA AAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTTTC others(30): Show TCTTTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0338 a0001c0002t0001g0338	1	274	0.0036	37	c.43 others(48): Show c.4375_*4376insGAGAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAA AAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879831	T T	TCCTTCCT others(30): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0009 a0003c0008t0009	a0003c0008t0009g0146 a0003c0008t0009g0146	1	260	0.0038	37	c.43 others(48): Show c.4332_*4333insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2508		chr16	TogoVar
CNMD_chr13_52698264_52744820	52704461	A A	ATATAGTT others(30): Show ATATAGTTATGCCTTCTAGTTTTTTATGTAAATATAGT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	5	0.2000	37	c.790 others(52): Show c.790-652_790-651insACTATATTTACATAAAAAACTAGAAGGCAT AACTATA	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding	6/6			chr13	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(30): Show CAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	119	0.0084	37	c.157 others(54): Show c.1574-933_1574-932insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT6L_chr4_77708387_77824368	77819075	C C	CACACACA others(30): Show CACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	322	0.0031	37	c.5+2 others(48): Show c.5+228_5+229insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02818.hp1 HG03486.hp1 HG01952.hp1 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0010g0085 a0001c0001t0010g0091 a0001c0003t0001g0082 a0001c0001t0010g0085 a0001c0001t0010g0091 a0001c0003t0001g0082	3	182	0.0165	37	c.100 others(56): Show c.100-17958_100-17957insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527057	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	397	0.0025	37	c.100 others(56): Show c.100-17961_100-17960insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNR2_chr1_23865515_23918362	23899908	A A	AAAGAAAA others(30): Show AAAGAAAAGAAAAAAAAGAAAGAAAAGAAAGAAAGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0197 a0001c0001t0033g0197	1	223	0.0045	37	c.-46 others(56): Show c.-46+13337_-46+13338insCCTCTTTCTTTCTTTTCTTTCTTTTT TTTCTTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0227 a0001c0003t0011g0227	1	26	0.0385	37	c.-76 others(56): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2120405	A A	ATAAATAT others(30): Show ATAAATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	45	0.0222	37	c.-14 others(58): Show c.-145+19767_-145+19768insAAATATATATATATATATATATAT ATATTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar

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