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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CYP20A1_chr2_203234018_203311026	203271083	T T	TATATGTA others(36): Show TATATGTATATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	334	0.0030	43	c.601 others(60): Show c.601-1587_601-1586insATATGTATATGTATATATATATATATAT ATATATATATATATA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	5/12			chr2	TogoVar
CYP4F22_chr19_15503525_15557317	15510966	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	384	0.0026	43	c.-10 others(62): Show c.-109+2384_-109+2385insATATATATATATATATATATATATAT ATATATATATTTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01952.hp2 HG03225.hp1 others(2): Show HG01943.hp1 HG01952.hp2 HG03225.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020	a0001c0001t0002g0277 a0001c0001t0006g0252 a0001c0001t0015g0183 others(2): Show a0001c0001t0002g0277 a0001c0001t0006g0252 a0001c0001t0015g0183 a0001c0001t0018g0317 a0001c0001t0020g0164	5	424	0.0118	43	c.918 others(58): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259792	T T	TATATAAT others(36): Show TATATAATATATATATATATATATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0209 a0001c0001t0024g0209	1	348	0.0029	43	c.34+ others(60): Show c.34+12681_34+12682insTATATATATATATTATATATATATATAT ATATATATATTATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241760350	G G	GGTGGGCA others(36): Show GGTGGGCATTACCCAATCAGTCGAAGGCCTTCGCCACAGCGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(100): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01943.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp2 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0018	a0001c0001 a0001c0012 a0001c0026 others(12): Show a0001c0001 a0001c0012 a0001c0026 a0001c0027 a0002c0002 a0002c0009 a0003c0003 a0004c0005 a0004c0021 a0005c0004 a0005c0018 a0006c0006 a0008c0011 a0009c0010 a0018c0025	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(25): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0052 a0001c0012t0008 a0001c0012t0030 a0001c0026t0002 a0001c0027t0002 a0002c0002t0002 a0002c0002t0013 a0002c0002t0034 a0002c0002t0049 a0002c0009t0008 a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 a0003c0003t0044 a0004c0005t0002 a0004c0005t0013 a0004c0021t0008 a0005c0004t0002 a0005c0004t0005 a0005c0018t0008 a0006c0006t0002 a0008c0011t0002 a0009c0010t0002 a0018c0025t0016	a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 others(96): Show a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0172 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0006g0285 a0001c0001t0016g0181 a0001c0001t0016g0184 a0001c0001t0017g0009 a0001c0001t0052g0162 a0001c0012t0008g0031 a0001c0012t0030g0165 a0001c0012t0030g0314 a0001c0026t0002g0087 a0001c0027t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0002g0141 a0002c0002t0013g0152 a0002c0002t0034g0264 a0002c0002t0049g0106 a0002c0009t0008g0094 a0002c0009t0008g0099 a0002c0009t0008g0133 a0002c0009t0008g0134 a0002c0009t0008g0136 a0002c0009t0008g0153 a0003c0003t0002g0336 a0003c0003t0002g0337 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0011g0343 a0003c0003t0011g0366 a0003c0003t0011g0367 a0003c0003t0011g0376 a0003c0003t0013g0352 a0003c0003t0013g0368 a0003c0003t0013g0369 a0003c0003t0013g0370 a0003c0003t0044g0316 a0004c0005t0002g0101 a0004c0005t0002g0104 a0004c0005t0013g0149 a0004c0021t0008g0029 a0005c0004t0002g0026 a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 a0005c0004t0005g0024 a0005c0004t0005g0326 a0005c0018t0008g0327 a0006c0006t0002g0296 a0006c0006t0002g0297 a0006c0006t0002g0298 a0006c0006t0002g0299 a0008c0011t0002g0102 a0009c0010t0002g0361 a0018c0025t0016g0161	103	412	0.2500	43	c.130 others(62): Show c.1306+4342_1306+4343insATTACCCAATCAGTCGAAGGCCTTCG CCACAGCGTGAGTGGGC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241760357	C C	ATTACCCA others(36): Show ATTACCCAATCAGTCGAAGGCCTTCGCCACAGCGTGAGTGGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03471.hp2 others(4): Show HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 NA19004.hp2 NA19043.hp2 NA19054.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0001 a0002c0002 a0007c0017 others(1): Show a0001c0001 a0002c0002 a0007c0017 a0015c0019	a0001c0001t0002 a0002c0002t0002 a0002c0002t0033 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0033 a0007c0017t0008 a0015c0019t0002	a0001c0001t0002g0061 a0002c0002t0002g0142 a0002c0002t0002g0155 others(4): Show a0001c0001t0002g0061 a0002c0002t0002g0142 a0002c0002t0002g0155 a0002c0002t0033g0182 a0002c0002t0033g0183 a0007c0017t0008g0375 a0015c0019t0002g0096	7	412	0.0170	43	c.130 others(62): Show c.1306+4342_1306+4343insATTACCCAATCAGTCGAAGGCCTTCG CCACAGCGTGAGTGGGC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
DACH1_chr13_71432966_71872204	71529183	G G	GTTTTTTT others(36): Show GTTTTTTTTTTGTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	102	0.0098	43	c.157 others(64): Show c.1570+27840_1570+27841insAAAAAAAAAAAAAAAACAAAAAAA AAAAAAAACAAAAAAAAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86546394	T T	TCTTCTTC others(36): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18990.hp1 NA19002.hp1 HG03017.hp1 NA18990.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0143 a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0143	3	166	0.0181	43	c.640 others(62): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCTTCCTTCTTCTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(36): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02602.hp1 HG01109.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0095 a0001c0001t0003g0120 a0001c0001t0002g0095 a0001c0001t0003g0120	2	166	0.0121	43	c.640 others(62): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACA others(36): Show CACACACACACCCCAACACACACACACACACACCCCCCAACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0221 a0001c0005t0001g0221	1	236	0.0042	43	c.63- others(60): Show c.63-33480_63-33479insACACACACACCCCAACACACACACACAC ACACCCCCCAACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98870806	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	330	0.0030	43	c.433 others(62): Show c.433+10733_433+10734insCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52404459	T T	TTCTGTAA others(36): Show TTCTGTAACGTTAAACATGTTGAGTTTATATTGCATAACTGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG03195.hp2 HG01884.hp2 HG02647.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0006 a0001c0002 a0001c0005 a0003c0006	a0001c0002t0001 a0001c0005t0019 a0003c0006t0009 a0001c0002t0001 a0001c0005t0019 a0003c0006t0009	a0001c0002t0001g0103 a0001c0005t0019g0105 a0003c0006t0009g0104 a0001c0002t0001g0103 a0001c0005t0019g0105 a0003c0006t0009g0104	3	114	0.0263	43	c.91+ others(60): Show c.91+63583_91+63625dupCTGTAACGTTAAACATGTTGAGTTTATA TTGCATAACTGAAGT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0023	a0001c0008t0023g0098 a0001c0008t0023g0098	1	114	0.0088	43	c.91+ others(62): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300990	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0064 a0002c0001t0015g0064	1	114	0.0088	43	c.191 others(62): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53342823	C C	CATATATA others(36): Show CATATATATTTGAATATTCCTAAATATATATACATATGTATATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01106.hp1 others(9): Show HG00597.hp1 HG00673.hp2 HG01106.hp1 HG01433.hp2 HG02809.hp1 HG03017.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18971.hp1 NA18982.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0017 a0001c0003 a0009c0017	a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 others(3): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 a0001c0003t0030 a0009c0017t0004	a0001c0003t0001g0058 a0001c0003t0004g0008 a0001c0003t0004g0052 others(9): Show a0001c0003t0001g0058 a0001c0003t0004g0008 a0001c0003t0004g0052 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0077 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0020g0102 a0001c0003t0030g0020 a0009c0017t0004g0110	12	114	0.1053	43	c.235 others(62): Show c.2359+2931_2359+2973dupATTCCTAAATATATATACATATGTAT ATTATATATATTTGAAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351405	A A	ATATATAT others(36): Show ATATATATACTGTATATATATATATACAGTATATATATACAGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG02486.hp2 others(1): Show HG00738.hp2 HG01884.hp1 HG02486.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0020 a0001c0003 a0002c0004 a0002c0020	a0001c0003t0003 a0002c0004t0003 a0002c0020t0007 a0001c0003t0003 a0002c0004t0003 a0002c0020t0007	a0001c0003t0003g0073 a0002c0004t0003g0012 a0002c0004t0003g0023 others(1): Show a0001c0003t0003g0073 a0002c0004t0003g0012 a0002c0004t0003g0023 a0002c0020t0007g0113	4	114	0.0351	43	c.235 others(64): Show c.2359+11506_2359+11507insCTGTATATATATATATACAGTATA TATATACAGTGTATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3725463	T T	TGCCAGGT others(36): Show TGCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0190 a0002c0004t0001g0190	1	324	0.0031	43	c.340 others(60): Show c.340-1537_340-1536insAGGTGGATCCTGGAGGGAGACCGCCAGA GTGACGAGGATGGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725551	T T	TGCCAGGT others(36): Show TGCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG01109.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0143 a0001c0002t0001g0037 a0001c0002t0001g0143	2	324	0.0062	43	c.340 others(60): Show c.340-1449_340-1448insAGGTGGATCCTGGAGGGAGACCGCCAGA GTGACGAGGATGGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24359470	A A	AATATATA others(36): Show AATATATATTTTATATATAATATATTATATATATTTTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02622.hp1 HG02630.hp2 others(3): Show HG01943.hp2 HG02622.hp1 HG02630.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0001 a0002c0012t0001 a0003c0003t0005 others(1): Show a0002c0002t0001 a0002c0012t0001 a0003c0003t0005 a0003c0003t0012	a0002c0002t0001g0172 a0002c0012t0001g0170 a0003c0003t0005g0173 others(3): Show a0002c0002t0001g0172 a0002c0012t0001g0170 a0003c0003t0005g0173 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0012g0171	6	216	0.0278	43	c.-17 others(54): Show c.-1721_-1720insAATATATAAAATATATATAATATATTATATATAA AATATATAT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1412		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0188 a0001c0001t0023g0188	1	230	0.0044	43	c.103 others(62): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0048 a0001c0002t0052g0048	1	364	0.0028	43	c.54- others(58): Show c.54-1131_54-1130insATATATATATATATATATATATATATATAT ATATATATATATA	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DEFB124_chr20_31460471_31480127	31466623	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	362	0.0028	43	c.59- others(56): Show c.59-961_59-960insATATATATATATATATATATATATATATATAT ATATATATATA	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(36): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	352	0.0028	43	c.-25 others(62): Show c.-25-20842_-25-20841insGCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND5B_chr12_31377226_31596136	31591587	C C	CTCCTGAA others(36): Show CTCCTGAAGGTGCTGTCCATCGCCTTCATTAGTGTCCTTGACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	308	0.0033	43	c.-75 others(52): Show c.-756_-755insAAGTCAAGGACACTAATGAAGGCGATGGACAGCACC TTCAGGA	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding		452		chr12	TogoVar
DENND6B_chr22_50304030_50332012	50317069	G G	GGGGGGGG others(36): Show GGGGGGGGCGGCGAGGACGGGGGGGGGGGCGGCGAGGACAGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0016 a0003c0007t0007g0016	1	326	0.0031	43	c.453 others(58): Show c.453+223_453+224insGCCCTGTCCTCGCCGCCCCCCCCCCCGTCC TCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(36): Show TGGGGGGGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	308	0.0033	43	c.67 others(54): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCCACCGCCTCCCCC ACCCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(36): Show TGGGGGGGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA18951.hp1 HG02818.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0007 a0001c0001t0022g0138 a0001c0001t0002g0007 a0001c0001t0022g0138	2	308	0.0065	43	c.67 others(54): Show c.6718_*6719insCACCGCCTCCCCCACCCCCCCCACCGCCTCCCCC ACCCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3649		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	43	c.-28 others(54): Show c.-2845_-2844insGCATGCGCGCGGCGCGCGCACACACACACACACA CACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14211769	T T	TTTTACTC others(36): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03942.hp2 HG02976.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0023 a0001c0017t0024 a0001c0001t0023 a0001c0017t0024	a0001c0001t0023g0122 a0001c0017t0024g0146 a0001c0001t0023g0122 a0001c0017t0024g0146	2	148	0.0135	43	c.212 others(64): Show c.2123-33619_2123-33618insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212344	A A	ATTTACTC others(36): Show ATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	148	0.0068	43	c.212 others(64): Show c.2123-34194_2123-34193insATCACAAAACATGAGAGTAAATAT CACAAAACACGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397028	C C	CCAGAGTG others(36): Show CCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02572.hp1 others(19): Show HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0006c0015	a0001c0001t0013 a0001c0001t0024 a0001c0001t0026 others(9): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0026 a0001c0001t0042 a0001c0002t0003 a0001c0002t0004 a0001c0002t0025 a0001c0003t0005 a0001c0004t0013 a0001c0004t0014 a0001c0011t0002 a0006c0015t0004	a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0024g0134 others(19): Show a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0024g0134 a0001c0001t0026g0094 a0001c0001t0042g0135 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0004g0078 a0001c0002t0004g0096 a0001c0002t0004g0098 a0001c0002t0004g0117 a0001c0002t0025g0174 a0001c0003t0005g0144 a0001c0003t0005g0145 a0001c0003t0005g0146 a0001c0003t0005g0147 a0001c0004t0013g0091 a0001c0004t0014g0160 a0001c0004t0014g0162 a0001c0004t0014g0164 a0001c0011t0002g0089 a0006c0015t0004g0118	22	336	0.0655	43	c.348 others(60): Show c.348+6545_348+6546insCAGAGTGAGAGGACTCCAGAGGGGACCA GGGTGGCTGGTAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0049 a0002c0004t0001g0049	1	208	0.0048	43	c.180 others(60): Show c.180+6647_180+6648insAAAAAAAAATATATATATATATATATAT ATATATATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIP2C_chr10_269201_694668	346252	A A	AAACCCCA others(36): Show AAACCCCACACTCACCCAGACACACCGCGCATAGTTCTCCCGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	43	c.323 others(62): Show c.3232-1143_3232-1142insCCCGGGAGAACTATGCGCGGTGTGTC TGGGTGAGTGTGGGGTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	347885	C C	CCACACTC others(36): Show CCACACTCACCCAGACGCGTCGCGCATAGCTCTCCTGGAAACGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(76): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0002 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0002 a0001c0018t0003 a0001c0019t0006 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 others(76): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0003g0082 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0005t0002g0087 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0010t0002g0001 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0017t0002g0064 a0001c0018t0003g0011 a0001c0019t0006g0014 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	79	88	0.8977	43	c.323 others(60): Show c.3231+755_3231+756insACGTTTCCAGGAGAGCTATGCGCGACGC GTCTGGGTGAGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	347893	A A	ACCCAGAC others(36): Show ACCCAGACGCGTCGCGCATAGCTCTCCTGGAAACGTCACACACC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	43	c.323 others(60): Show c.3231+747_3231+748insGGTGTGTGACGTTTCCAGGAGAGCTATG CGCGACGCGTCTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	371632	A A	AGAGCAGC others(36): Show AGAGCAGCACCCGAGGGAGGCTGGGGTGAGGCCTGGGCTGAGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	43	c.199 others(62): Show c.1992-2042_1992-2000dupAGCTCAGCCCAGGCCTCACCCCAGCC TCCCTCGGGTGCTGCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429404	C C	CCCCCCCG others(36): Show CCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	43	c.395 others(60): Show c.395-6372_395-6371insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	501303	T T	TAAGTGGC others(36): Show TAAGTGGCAATAATTAAGAATATACTTTATTTAGAAGGCAAATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	43	c.86- others(60): Show c.86-14816_86-14774dupTATTTGCCTTCTAAATAAAGTATATTCT TAATTATTGCCACTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608664	A A	ACACACAC others(36): Show ACACACACACACATCCCCCCCCCACACACACACACATCCCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	88	0.0114	43	c.85+ others(60): Show c.85+80829_85+80830insGGGGGGGATGTGTGTGTGTGTGGGGGGG GGATGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2714206	C C	CCACCCTT others(36): Show CCACCCTTCACCCCATCCCTCACTTCCTACACCCACCACTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	412	0.0024	43	c.30 others(54): Show c.3003_*3004insAGGAAGTGGTGGGTGTAGGAAGTGAGGGATGGGG TGAAGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		360		chr19	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	400	0.0025	43	c.558 others(58): Show c.558+251_558+252insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	400	0.0025	43	c.558 others(58): Show c.558+251_558+252insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0270 a0002c0002t0007g0270	1	400	0.0025	43	c.558 others(58): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP3_chr1_11474155_11542551	11522924	G G	GAGCCCAG others(36): Show GAGCCCAGCCAGGACCCAGCAAGGACCCAGCCAGGACCCAGCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0114 a0001c0007t0005g0115 a0001c0007t0005g0114 a0001c0007t0005g0115	2	358	0.0056	43	c.236 others(62): Show c.2363-1018_2363-1017insAGCCCAGCCAGGACCCAGCAAGGACC CAGCCAGGACCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	336	0.0030	43	c.51 others(54): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATATATA TATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLG1_chr3_197037560_197303612	197158634	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	332	0.0030	43	c.484 others(60): Show c.484-8839_484-8838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	5/24			chr3	TogoVar
DLGAP2_chr8_732628_1713476	1101798	T T	TGAGCCGA others(36): Show TGAGCCGAACACGACACGACGATGGGAAGGTCCTCGTCACCCCG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	43	c.74- others(62): Show c.74-157025_74-157024insGTCCTCGTCACCCCGGAGCCGAACAC GACACGACGATGGGAAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34860762	A A	AGGGGGGG others(36): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	266	0.0038	43	c.53 others(54): Show c.5320_*5321insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCC	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding		4673		chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	266	0.0038	43	c.-51 others(58): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATATATATATAT	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906033	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	266	0.0038	43	c.-51 others(58): Show c.-51-600_-51-599insTATATATATATATATATATATATATATATA TATATATATATAT	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 2299 hits)