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
BLVRB_chr19_40442768_40470745	40450923	CATGGCGG others(22): Show CATGGCGGGGCATGGTGATGCAGGCCTGTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(35): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG02071.hp2 HG02258.hp2 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 NA18946.hp1 NA18959.hp1 NA18968.hp1 NA18969.hp2 NA18986.hp2 NA19002.hp2 NA19009.hp2 NA19067.hp2 NA19077.hp1 NA19082.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0003c0006t0001	a0001c0001t0001g0163 a0001c0002t0001g0081 a0001c0002t0001g0082 others(35): Show a0001c0001t0001g0163 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0129 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0330 a0001c0002t0001g0331 a0002c0004t0001g0171 a0003c0006t0001g0335	38	362	0.1050	-29	c.463 others(44): Show c.463+412_463+440delTACAGGCCTGCATCACCATGCCCCGCCAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BMP3_chr4_81025708_81062627	81061612	TCAATTTT others(22): Show TCAATTTTAGTTGGTGGCAACTTGATTTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	382	0.0026	-29	c.80 others(40): Show c.8077_*8105delCAATTTTAGTTGGTGGCAACTTGATTTGA	BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding		3986		chr4	TogoVar
BMP5_chr6_55748653_55880590	55767619	TCAACATA others(22): Show TCAACATACTTGTTTCAGGAGGGGTTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0167 a0005c0013t0004g0167	1	320	0.0031	-29	c.102 others(48): Show c.1027+6401_1027+6429delTGGAAACCCCTCCTGAAACAAGTATG TTG	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	4/6			chr6	TogoVar
BMPR1A_chr10_86751619_86932969	86790189	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0176 a0002c0001t0002g0176	1	278	0.0036	-29	c.-26 others(50): Show c.-268+33271_-268+33299delTATATATATATATATATATATATA TATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12			chr10	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02717.hp1 others(5): Show HG02280.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp1 HG03471.hp1 HG06807.hp1 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0016 a0012c0014 a0001c0001 a0001c0016 a0012c0014	a0001c0001t0003 a0001c0001t0009 a0001c0001t0089 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0089 a0001c0016t0092 a0012c0014t0033	a0001c0001t0003g0016 a0001c0001t0003g0063 a0001c0001t0009g0036 others(5): Show a0001c0001t0003g0016 a0001c0001t0003g0063 a0001c0001t0009g0036 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0089g0030 a0001c0016t0092g0086 a0012c0014t0033g0078	8	176	0.0455	-29	c.331 others(48): Show c.331-31902_331-31874delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148080	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG01891.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	352	0.0057	-29	c.177 others(46): Show c.177+1124_177+1152delAAATATATATATATATATATATATATAT A	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BOD1L1_chr4_13563738_13632725	13573477	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTCTTTTGAGAAAGAGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	258	0.0039	-29	c.903 others(48): Show c.9038+3332_9039-3350delGCTCTTTCTCAAAAGAAAGAAAGAAA GAA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25			chr4	TogoVar
BORCS8_chr19_19171906_19197152	19177685	GAAGGAAG others(22): Show GAAGGAAGGAAGAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00639.hp2 others(32): Show HG00408.hp2 HG00544.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG02109.hp1 HG02293.hp1 HG02622.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp2 HG03927.hp2 NA18906.hp2 NA18950.hp2 NA18971.hp1 NA18972.hp2 NA18993.hp2 NA18997.hp1 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0024 others(21): Show a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0002g0211 a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0308 a0001c0001t0002g0320 a0001c0001t0008g0306	35	428	0.0818	-29	c.43 others(44): Show c.43-254_*43-226delTCTTTTCTTTTCTTTTCTCTTCCTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424599	TTCTCCTC others(22): Show TTCTCCTCCTCCTCCTCCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19001.hp2 NA18953.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0280 a0001c0001t0001g0284	2	422	0.0047	-29	c.121 others(48): Show c.1218-5224_1218-5196delGGAGGAGGAGGAGGAGGAGGAGGAGG AGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32462178	AAAAAAAA others(22): Show AAAAAAAAAAAAAGAAAAAAGAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0301 a0005c0005t0002g0301	1	422	0.0024	-29	c.-88 others(44): Show c.-88-546_-88-518delCTTTTTTTTCTTTTTTCTTTTTTTTTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	1/16			chr22	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03017.hp1 HG03704.hp2 others(6): Show HG00438.hp2 HG03017.hp1 HG03704.hp2 HG03831.hp2 NA18953.hp1 NA18968.hp2 NA18969.hp1 NA19067.hp2 NA19080.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0002c0015 a0017c0014 a0002c0002 a0002c0015 a0017c0014	a0002c0002t0002 a0002c0015t0002 a0017c0014t0002 a0002c0002t0002 a0002c0015t0002 a0017c0014t0002	a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 others(6): Show a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0104 a0002c0002t0002g0112 a0002c0002t0002g0132 a0002c0015t0002g0055 a0017c0014t0002g0040	9	318	0.0283	-29	c.-37 others(44): Show c.-37-554_-37-526delAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765403	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0031 a0001c0005t0031	a0001c0005t0031g0146 a0001c0005t0031g0146	1	266	0.0038	-29	c.209 others(50): Show c.2097+10969_2097+10997delAAAAAAAAATATATATATATATAT ATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIX1_chr5_34910711_34930996	34912511	GTGGAATT others(22): Show GTGGAATTGTCTGTGGAAACGTAAAATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	440	0.0023	-29	c.-32 others(40): Show c.-3227_-3199delTGGAATTGTCTGTGGAAACGTAAAATACA	BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding		3199		chr5	TogoVar
BRMS1L_chr14_35821338_35876963	35851350	GTGATTTC others(22): Show GTGATTTCCAGATGTCTAAACAAAAAAGCA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18747.hp2 HG02135.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	374	0.0054	-29	c.442 others(48): Show c.442-11237_442-11209delATTTCCAGATGTCTAAACAAAAAAGC ATG	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
BRSK2_chr11_1384934_1467689	1405323	ATGTGTGT others(22): Show ATGTGTGTGTGGTGTGTCTGCATATGCAGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0350 a0002c0002t0007g0350	1	360	0.0028	-29	c.91+ others(46): Show c.91+14959_91+14987delGTGTGTCTGCATATGCAGGTGTGTGTGT G	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435206	AGAGGAGG others(22): Show AGAGGAGGGGTGCCGGTGGGGGTCTCAGCG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp2 HG02486.hp1 others(2): Show HG00673.hp1 HG02129.hp2 HG02486.hp1 NA18945.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0062 a0001c0003t0001 a0002c0002t0002 a0001c0001t0062 a0001c0003t0001 a0002c0002t0002	a0001c0001t0062g0257 a0001c0003t0001g0135 a0001c0003t0001g0331 others(2): Show a0001c0001t0062g0257 a0001c0003t0001g0135 a0001c0003t0001g0331 a0002c0002t0002g0088 a0002c0002t0002g0321	5	360	0.0139	-29	c.92- others(42): Show c.92-808_92-780delAGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(22): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01109.hp2 others(34): Show HG00323.hp1 HG00323.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02129.hp1 HG02165.hp2 HG02300.hp1 HG02622.hp1 HG02698.hp2 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03669.hp2 HG04204.hp1 NA18939.hp1 NA18952.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0025 a0001c0001t0031 a0001c0001t0036 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0015 a0002c0002t0019 a0002c0002t0072	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0057 others(34): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0317 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0090 a0001c0001t0004g0121 a0001c0001t0006g0214 a0001c0001t0006g0282 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0128 a0001c0001t0009g0187 a0001c0001t0011g0303 a0001c0001t0025g0143 a0001c0001t0031g0012 a0001c0001t0036g0300 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0031 a0002c0002t0002g0079 a0002c0002t0002g0098 a0002c0002t0005g0212 a0002c0002t0005g0276 a0002c0002t0005g0281 a0002c0002t0008g0167 a0002c0002t0015g0027 a0002c0002t0019g0043 a0002c0002t0072g0273	37	360	0.1028	-29	c.92- others(42): Show c.92-474_92-446delCCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217052	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03239.hp2 HG03516.hp1 others(1): Show HG01975.hp2 HG03239.hp2 HG03516.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0036 a0001c0001t0002 a0001c0001t0009 a0001c0001t0036	a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0009g0006 others(1): Show a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0009g0006 a0001c0001t0036g0067	4	338	0.0118	-29	c.365 others(48): Show c.3659+1071_3659+1099delTATATATATATATATATATATATATA TAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BSN_chr3_49549477_49676549	49603114	GGGCCCCT others(22): Show GGGCCCCTCAAGTCATGCCCCTCCACTGCT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02572.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02572.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 others(3): Show a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0029g0158	6	186	0.0323	-29	c.225 others(48): Show c.225-21849_225-21821delTCATGCCCCTCCACTGCTGGCCCCTC AAG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSX_chr11_122972570_122986834	122985097	GGGGACAG others(22): Show GGGGACAGGGAAACTATTTTCTCTTTAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	422	0.0024	-29	c.-34 others(40): Show c.-3455_-3427delTTTTAAAGAGAAAATAGTTTCCCTGTCCC	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		3264		chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816377	CACACATA others(22): Show CACACATAGATGTGTGTGTATATTATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02135.hp1 HG02135.hp2 others(2): Show HG01361.hp2 HG02135.hp1 HG02135.hp2 HG03831.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 a0001c0001t0053 a0001c0001t0114	a0001c0001t0002g0015 a0001c0001t0009g0002 a0001c0001t0032g0003 others(2): Show a0001c0001t0002g0015 a0001c0001t0009g0002 a0001c0001t0032g0003 a0001c0001t0053g0002 a0001c0001t0114g0066	5	436	0.0115	-29	c.26 others(40): Show c.2606_*2634delACACATAGATGTGTGTGTATATTATATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		793		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816595	ATATATAT others(22): Show ATATATATACACATAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01884.hp2 others(14): Show HG00639.hp1 HG01243.hp2 HG01884.hp2 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 others(12): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0094 a0001c0001t0097 a0001c0001t0099 a0001c0001t0105 a0001c0001t0115 a0001c0001t0116	a0001c0001t0002g0022 a0001c0001t0009g0002 a0001c0001t0021g0022 others(13): Show a0001c0001t0002g0022 a0001c0001t0009g0002 a0001c0001t0021g0022 a0001c0001t0022g0027 a0001c0001t0033g0014 a0001c0001t0033g0027 a0001c0001t0045g0003 a0001c0001t0046g0004 a0001c0001t0048g0017 a0001c0001t0050g0014 a0001c0001t0094g0027 a0001c0001t0097g0004 a0001c0001t0099g0003 a0001c0001t0105g0088 a0001c0001t0115g0003 a0001c0001t0116g0099	17	436	0.0390	-29	c.28 others(40): Show c.2824_*2852delTATATATACACATAGATGTGTGTGTATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1011		chr1	TogoVar
BTBD9_chr6_38163451_38644929	38166477	ACGCACAG others(22): Show ACGCACAGCAGAGCCCTCCACCTCCCCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0181 a0002c0003t0183 a0001c0001t0181 a0002c0003t0183	a0001c0001t0181g0087 a0002c0003t0183g0008 a0001c0001t0181g0087 a0002c0003t0183g0008	2	224	0.0089	-29	c.84 others(40): Show c.8479_*8507delGTGGGGGAGGTGGAGGGCTCTGCTGTGCG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		1973		chr6	TogoVar
BTN3A3_chr6_26435504_26458415	26436606	GAGCAGAC others(22): Show GAGCAGACCCCCACTGGCACCTATCCCATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01168.hp1 others(50): Show HG00733.hp2 HG01069.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA19030.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0002t0019 a0001c0002t0024	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0017 others(9): Show a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0003g0011 a0001c0002t0014g0011 a0001c0002t0019g0003 a0001c0002t0024g0011	53	410	0.1293	-29	c.-41 others(40): Show c.-4108_-4080delAGCAGACCCCCACTGGCACCTATCCCATA	BTN3A3	ENSG00000111801.16	transcript	ENST00000244519.7	protein_coding		3897		chr6	TogoVar
BUD13_chr11_116743173_116777987	116758159	TACTGATA others(22): Show TACTGATAACAGCTCTGAAGGCATAATAAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	440	0.0023	-29	c.149 others(45): Show c.1499+81_1499+109delCTTATTATGCCTTCAGAGCTGTTATCAGT	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	7/9			chr11	TogoVar
BZW1_chr2_200806910_200832338	200826397	ATAGATAG others(22): Show ATAGATAGATATTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0073 a0001c0001t0116g0073	1	388	0.0026	-29	c.42 others(40): Show c.4221_*4249delAGATAGATATTTTTTTTTTTTTTTTTTTT	BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12	4221	INFO_REALIGN_3_PRIME	chr2	TogoVar
C11orf71_chr11_114393532_114405511	114394199	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01891.hp1 HG02109.hp1 others(6): Show HG01515.hp2 HG01891.hp1 HG02109.hp1 HG02615.hp1 HG02895.hp1 HG02922.hp2 HG03704.hp1 HG04184.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	9	422	0.0213	-29	c.57 others(40): Show c.5732_*5760delGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4332		chr11	TogoVar
C12orf54_chr12_48477498_48501524	48497599	AGCACTTT others(22): Show AGCACTTTGGGAGGCTGAGGCAGGCGGATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	436	0.0023	-29	c.14 others(40): Show c.1460_*1488delGCACTTTGGGAGGCTGAGGCAGGCGGATC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		1076		chr12	TogoVar
C12orf57_chr12_6939022_6951002	6944186	CTAGTCAA others(22): Show CTAGTCAAGGCATAGGCTGCTGGCCTGGGG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19074.hp1 NA19076.hp1 others(1): Show HG04115.hp1 NA19074.hp1 NA19076.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0009 a0001c0001t0001g0021	4	427	0.0094	-29	c.52+ others(40): Show c.52+26_52+54delAGGCTGCTGGCCTGGGGTAGTCAAGGCAT	C12orf57	ENSG00000111678.11	transcript	ENST00000229281.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
C13orf46_chr13_113948705_113979076	113976811	CCAGCACA others(22): Show CCAGCACAGCTGTGCCCAGAGTGTGAACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	414	0.0024	-29	c.-28 others(40): Show c.-2843_-2815delCCGTTCACACTCTGGGCACAGCTGTGCTG	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		2736		chr13	TogoVar
C17orf107_chr17_4894536_4907934	4907086	AATGGGTA others(22): Show AATGGGTACAAAAAAAATAGAATAAGACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0001 a0003c0003t0008g0001	1	442	0.0023	-29	c.65 others(40): Show c.6554_*6582delATGGGTACAAAAAAAATAGAATAAGACCT	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding		4153		chr17	TogoVar
C17orf58_chr17_67986099_68001469	67999308	GGTGGAAG others(22): Show GGTGGAAGGTACAAAGAGTTCAAAGAGACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	412	0.0024	-29	c.-31 others(40): Show c.-3139_-3111delAGTCTCTTTGAACTCTTTGTACCTTCCAC	C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding		2840		chr17	TogoVar
C1orf159_chr1_1076823_1121089	1077332	GGGAGGCT others(22): Show GGGAGGCTGAGGCTACGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	326	0.0031	-29	c.55 others(40): Show c.5532_*5560delGGCACGGAGTCCCCGTAGCCTCAGCCTCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4490		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108268	AGCACCGT others(22): Show AGCACCGTCCACCACAGCCACCATGTCTCG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	326	0.0031	-29	c.-13 others(48): Show c.-136+7763_-136+7791delCGAGACATGGTGGCTGTGGTGGACGG TGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108337	CCACCACA others(22): Show CCACCACAGCCACCATGTCTTGGCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03486.hp1 others(1): Show HG03195.hp1 HG03453.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0005t0010	a0001c0001t0002g0076 a0001c0001t0006g0228 a0001c0001t0014g0226 others(1): Show a0001c0001t0002g0076 a0001c0001t0006g0228 a0001c0001t0014g0226 a0001c0005t0010g0227	4	326	0.0123	-29	c.-13 others(48): Show c.-136+7694_-136+7722delAACAGTGCCAAGACATGGTGGCTGTG GTG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108357	TGGCACTG others(22): Show TGGCACTGTTCACCACAGCCACCATGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0069 a0001c0002t0020g0069	1	326	0.0031	-29	c.-13 others(48): Show c.-136+7674_-136+7702delGAGACATGGTGGCTGTGGTGAACAGT GCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108448	GACACCGT others(22): Show GACACCGTTCACCACAGCCACCATGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03486.hp1 others(1): Show HG03195.hp1 HG03453.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0005t0010	a0001c0001t0002g0076 a0001c0001t0006g0228 a0001c0001t0014g0226 others(1): Show a0001c0001t0002g0076 a0001c0001t0006g0228 a0001c0001t0014g0226 a0001c0005t0010g0227	4	326	0.0123	-29	c.-13 others(48): Show c.-136+7583_-136+7611delTGAGACATGGTGGCTGTGGTGAACGG TGT	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203171	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18991.hp2 HG01099.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0082 a0001c0001t0002g0003 a0001c0001t0002g0082	2	374	0.0054	-29	c.42 others(40): Show c.4253_*4281delATATATATATATATATATATATATATATT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3548		chr1	TogoVar
C22orf42_chr22_32144006_32164303	32161887	GACTGATA others(22): Show GACTGATACAAAATCAAGAAGGGAGAAAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-29	c.-27 others(40): Show c.-2701_-2673delGCTTTCTCCCTTCTTGATTTTGTATCAGT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2585		chr22	TogoVar
C2CD4C_chr19_400445_414147	400557	CCCCAGGC others(22): Show CCCCAGGCCCACCCTCACTCTTCCAGGGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0059 a0001c0002t0037g0059	1	322	0.0031	-29	c.65 others(40): Show c.6510_*6538delAACCCTGGAAGAGTGAGGGTGGGCCTGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4887		chr19	TogoVar
C2CD4C_chr19_400445_414147	400637	CCAGGGTT others(22): Show CCAGGGTTCCCAGGCCCACCCTCACTCTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0040 a0001c0013t0040	a0001c0013t0040g0121 a0001c0013t0040g0121	1	322	0.0031	-29	c.64 others(40): Show c.6430_*6458delCAAGAGTGAGGGTGGGCCTGGGAACCCTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4807		chr19	TogoVar
C2CD4C_chr19_400445_414147	400818	GCGGTTCC others(22): Show GCGGTTCCCAGGCCCACCCTCACTCTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00673.hp2 others(21): Show HG00544.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01258.hp1 HG02027.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG03704.hp1 HG04199.hp1 NA18950.hp2 NA18962.hp1 NA18970.hp2 NA18983.hp1 NA19010.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0019 a0001c0001 a0001c0002 a0009c0019	a0001c0001t0014 a0001c0001t0076 a0001c0002t0003 others(7): Show a0001c0001t0014 a0001c0001t0076 a0001c0002t0003 a0001c0002t0011 a0001c0002t0060 a0001c0002t0070 a0001c0002t0080 a0001c0002t0126 a0001c0002t0132 a0009c0019t0066	a0001c0001t0014g0009 a0001c0001t0076g0073 a0001c0002t0003g0002 others(7): Show a0001c0001t0014g0009 a0001c0001t0076g0073 a0001c0002t0003g0002 a0001c0002t0011g0007 a0001c0002t0060g0124 a0001c0002t0070g0131 a0001c0002t0080g0134 a0001c0002t0126g0137 a0001c0002t0132g0141 a0009c0019t0066g0176	24	322	0.0745	-29	c.62 others(40): Show c.6249_*6277delTGGAAGAGTGAGGGTGGGCCTGGGAACCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4626		chr19	TogoVar
C2CD4C_chr19_400445_414147	404254	GGGGGACG others(22): Show GGGGGACGGGTCCTGTCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01258.hp1 HG02132.hp2 others(4): Show HG00738.hp2 HG01258.hp1 HG02132.hp2 HG03130.hp1 HG03704.hp1 NA19082.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0009c0019	a0001c0001t0076 a0001c0002t0003 a0001c0002t0011 others(2): Show a0001c0001t0076 a0001c0002t0003 a0001c0002t0011 a0001c0007t0038 a0009c0019t0066	a0001c0001t0076g0073 a0001c0002t0003g0002 a0001c0002t0011g0007 others(2): Show a0001c0001t0076g0073 a0001c0002t0003g0002 a0001c0002t0011g0007 a0001c0007t0038g0171 a0009c0019t0066g0176	7	322	0.0217	-29	c.28 others(40): Show c.2813_*2841delTCAGACCCCTCAGGACAGGACCCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1190		chr19	TogoVar
C2CD4C_chr19_400445_414147	404931	GGGGGAAC others(22): Show GGGGGAACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA19240.hp1 HG02615.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0008 a0001c0004 a0005c0008	a0001c0004t0004 a0005c0008t0040 a0001c0004t0004 a0005c0008t0040	a0001c0004t0004g0004 a0005c0008t0040g0064 a0001c0004t0004g0004 a0005c0008t0040g0064	2	322	0.0062	-29	c.21 others(40): Show c.2136_*2164delACACCCCTCAGGGCAGGACCCCGTTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		513		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201618638	ACATGGCA others(22): Show ACATGGCACATGTATACCTATGTAACAAAC	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0033 a0033	a0033c0017 a0033c0017	a0033c0017t0001 a0033c0017t0001	a0033c0017t0001g0267 a0033c0017t0001g0267	1	270	0.0037	-29	c.231 others(44): Show c.231+233_231+261delGTTTGTTACATAGGTATACATGTGCCATG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	1/15			chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557690	TCCTCACT others(22): Show TCCTCACTTTCCAGTAGGGGCGGCCGGGCA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0001 a0023c0039t0001	a0023c0039t0001g0321 a0023c0039t0001g0321	1	326	0.0031	-29	c.145 others(46): Show c.145-7646_145-7618delCCTCACTTTCCAGTAGGGGCGGCCGGGC A	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4			chr2	TogoVar
C2orf50_chr2_11128128_11156317	11155285	GGGGGCGG others(22): Show GGGGGCGGGGCGGGCCCGGGCGGGAGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01071.hp1 others(3): Show HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp2 HG01258.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0092 a0001c0001t0093 a0001c0001t0005 a0001c0001t0092 a0001c0001t0093	a0001c0001t0005g0007 a0001c0001t0005g0169 a0001c0001t0005g0176 others(2): Show a0001c0001t0005g0007 a0001c0001t0005g0169 a0001c0001t0005g0176 a0001c0001t0092g0153 a0001c0001t0093g0152	6	380	0.0158	-29	c.11 others(42): Show c.11175_*11203delGGGGCGGGGCGGGCCCGGGCGGGAGGGGC	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding		3969		chr2	TogoVar
C3orf70_chr3_185071838_185158060	185091930	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0014 a0001c0001t0114g0014	1	388	0.0026	-29	c.197 others(46): Show c.197-8396_197-8368delTATATATATATATATATATATATATATA T	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf70_chr3_185071838_185158060	185091935	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0148 a0001c0005t0148	a0001c0005t0148g0387 a0001c0005t0148g0387	1	388	0.0026	-29	c.197 others(46): Show c.197-8401_197-8373delATATATATATATATATATATATATATAT A	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf70_chr3_185071838_185158060	185091937	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	388	0.0026	-29	c.197 others(46): Show c.197-8403_197-8375delAAATATATATATATATATATATATATAT A	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar

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