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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MBOAT1_chr6_20094684_20217469	20111805	C C	CATATATA others(101): Show CATATATATACATATATATACATATATATATACATATATATACATATATA TATACATATATATACATATATATACATATATATATACATATATATATACA TATATACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19005.hp1 HG00544.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0010 a0001c0001t0001g0090	2	336	0.0060	108	c.120 others(127): Show c.1209+1070_1209+1071insATGTATATATGTATATATATATGTAT ATATATATGTATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATATGTATATATATGTATATATAT		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12						chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111805	C C	CATATATA others(101): Show CATATATATACATATATATATACATATATATACATATATATATACATATA TATACATATATATACATATATATATACATATATATACATATATATATACA TATATACAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00673.hp2 others(19): Show HG00423.hp2 HG00438.hp1 HG00673.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp2 HG02056.hp2 HG02074.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 NA18947.hp1 NA18970.hp2 NA18981.hp1 NA18982.hp2 NA18993.hp2 NA19000.hp2 NA19011.hp2 NA19058.hp1 NA19064.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0053 a0001c0001t0057	a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0100 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0002g0082 a0001c0001t0002g0205 a0001c0001t0003g0114 a0001c0001t0003g0148 a0001c0001t0003g0165 a0001c0001t0003g0177 a0001c0001t0003g0242 a0001c0001t0004g0088 a0001c0001t0004g0112 a0001c0001t0004g0203 a0001c0001t0005g0023 a0001c0001t0008g0009 a0001c0001t0041g0251 a0001c0001t0044g0026 a0001c0001t0047g0181 a0001c0001t0053g0128 a0001c0001t0057g0287	22	336	0.0655	108	c.120 others(127): Show c.1209+1070_1209+1071insATGTATATATGTATATATATATGTAT ATATATGTATATATATATGTATATATATGTATATATATGTATATATATAT GTATATATATGTATATATATATGTATATATAT		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12						chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54181877	G G	GGGAGGGA others(101): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGG GAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGA AGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	373	0.0027	108	c.494 others(123): Show c.494-745_494-744insTTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCCTCC		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7						chr19	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(101): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA19089.hp2 NA18963.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0257 a0001c0002t0007g0382 a0001c0002t0002g0257 a0001c0002t0007g0382	2	396	0.0051	108	c.52 others(119): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAGAAAAGAAAAGAAAAG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					3678		chr18	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TATATATG others(101): Show TATATATGTACATATATGTATATATGTACATATATGTATATATGTACATA TATGTATATATGTGCATATATGTATATATGTACATATATGTATATATGTA CATATGTAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0088 a0001c0012t0013g0088	1	160	0.0063	108	c.627 others(125): Show c.627+6690_627+6691insGTACATATGTACATATATACATATATGT ACATATATACATATATGCACATATATACATATATGTACATATATACATAT ATGTACATATATACATATATGTACATATAT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113333844	T T	TACATATA others(101): Show TACATATATGTATATATGTATATATGTACATATATGTATATATGTACATA TGTACATATATGTATATATGTACATATGTACATATGTACATATATGTACA TATATGTAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0009 a0001c0024t0009	a0001c0024t0009g0056 a0001c0024t0009g0056	1	160	0.0063	108	c.627 others(125): Show c.627+6674_627+6675insGTACATATATGTACATATATGTACATAT GTACATATGTACATATATACATATATGTACATATGTACATATATACATAT ATGTACATATATACATATATACATATATGT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCF2L_chr13_112964214_113104742	113025905	G G	GTGGGGTC others(101): Show GTGGGGTCCCCGTGACTGTGGGTTGGGGCAGAGTCTCTGTGAGGTTTCAT CATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGATT TCCCCGTCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 NA18522.hp1 HG02486.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0007 a0001c0005t0025 a0001c0010t0021 a0001c0001t0007 a0001c0005t0025 a0001c0010t0021	a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015 a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015	3	116	0.0259	108	c.278 others(125): Show c.278+1169_278+1170insTGGGGCAGAGTCTCTGTGAGGTTTCATC ATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGATTT CCCCGTCATGGGGTCCCCGTGACTGTGGGT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113026061	C C	CCCGTCGT others(101): Show CCCGTCGTGGGGTCCCTGTGACTGTGGGTTGGGGCAGAGTCTCTGTGAGG TTTCCCCATTGTGGGGTCCCTGTGACTTTGGGACGGGGCAGAGTCTCTGT GAGGTTCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 NA18522.hp1 HG02486.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0007 a0001c0005t0025 a0001c0010t0021 a0001c0001t0007 a0001c0005t0025 a0001c0010t0021	a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015 a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015	3	116	0.0259	108	c.278 others(125): Show c.278+1305_278+1306insGTCGTGGGGTCCCTGTGACTGTGGGTTG GGGCAGAGTCTCTGTGAGGTTTCCCCATTGTGGGGTCCCTGTGACTTTGG GACGGGGCAGAGTCTCTGTGAGGTTCCACC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113032978	G G	GTGACGTG others(101): Show GTGACGTGAGTGGCCCCCGTGACATTAGTGGACCCCGTGGCGTGAGTGGC CCCCATGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAG TGGCTGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0031 a0001c0004t0001 a0001c0012t0031	a0001c0004t0001g0103 a0001c0012t0031g0021 a0001c0004t0001g0103 a0001c0012t0031g0021	2	116	0.0172	108	c.278 others(125): Show c.278+8223_278+8224insCGTGAGTGGCCCCCGTGACATTAGTGGA CCCCGTGGCGTGAGTGGCCCCCATGACGTGAGTGGCCCCTGTGACATTAG TGGACCCCGTGGCGTGAGTGGCTGCCATGA		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033315	C C	CCCCCGTG others(101): Show CCCCCGTGACGTGAGTGGCCCCCGTGATGTGAGTGGACCCCGTGGCGTGA GTGGCCCCCATGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTGAC ATTAGTGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0083 a0001c0008t0004g0083	1	116	0.0086	108	c.278 others(125): Show c.278+8560_278+8561insCGTGACGTGAGTGGCCCCCGTGATGTGA GTGGACCCCGTGGCGTGAGTGGCCCCCATGATGTGAGTGGCCCCCGTGAC GTGAGTGGCCCCCGTGACATTAGTGGACCC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCOLN2_chr1_84920583_85002113	84987659	T T	TATGTATA others(101): Show TATGTATATATGTATATAGAAATATATACATACATATGTATATAGAAATA TATACATACATATGTATATAGAAATATATACATACATATGTATATAGAAA TATACATAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	350	0.0057	108	c.77+ others(123): Show c.77+9136_77+9137insGTATGTATATTTCTATATACATATGTATGT ATATATTTCTATATACATATGTATGTATATATTTCTATATACATATGTAT GTATATATTTCTATATACATATATACAT		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13						chr1	TogoVar
MCTP2_chr15_94226561_94488952	94468101	T T	TATATAAT others(101): Show TATATAATATAACAAACATGACAAATGTCTGATTTTTCTACTATCCAAAC TGATATTGGAAATCACTGAGGAAAAAGTTAAGCAAAACAGCTCAGGAGAA AACTAGCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	276	0.0036	108	c.236 others(127): Show c.2361-2228_2361-2121dupTAATATAACAAACATGACAAATGTCT GATTTTTCTACTATCCAAACTGATATTGGAAATCACTGAGGAAAAAGTTA AGCAAAACAGCTCAGGAGAAAACTAGCAAATA		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MED16_chr19_862963_898187	872947	G G	GGGGGAGG others(101): Show GGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCG AGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGGTGGGGGAGGGC TCCGAGGGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19004.hp1 NA18971.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0022 a0001c0002t0002g0020 a0001c0002t0001g0022 a0001c0002t0002g0020	2	56	0.0357	108	c.190 others(125): Show c.1905+501_1905+502insTCCCTCGGAGCCCTCCCCCACCTCGGAG CCCTGCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCCACCTC GGAGCCCTCCCCTCCCTCGGAGCCCTCCCC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873109	G G	GGGGGAGG others(101): Show GGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCG AGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGC TCCGAGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	56	0.0179	108	c.190 others(125): Show c.1905+339_1905+340insTCCCTCGGAGCCCTCCCCCACCTCGGAG CCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCTCCCTC GGAGCCCTCCCCTCCCTCGGAGCCCTCCCC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873127	G G	GGGGGAGG others(101): Show GGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCG AGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGC TCCGAGGGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	56	0.0179	108	c.190 others(125): Show c.1905+321_1905+322insTCCCTCGGAGCCCTCCCCCACCTCGGAG CCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCTCCCTC GGAGCCCTCCCCTCCCTCGGAGCCCTCCCC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873149	C C	CAGGGCTC others(101): Show CAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGT GGGGCAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCG AGGTGGGGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	56	0.0179	108	c.190 others(125): Show c.1905+299_1905+300insCCCCCACCTCGGAGCCCTGCCCCACCTC GGAGCCCTCCCCCACCTCGGAGCCCTGCCCCACCTCGGAGCCCTCCCCCA CCTCGGAGCCCTCCCCCACCTCGGAGCCCT		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MEF2C_chr5_88712117_88888184	88869277	A A	ATATATAC others(101): Show ATATATACACATATATATATATATATATATCCATATATATATATATATAT ATATATCCATATATATATATATATATATATATACATATATATATATATAT ATATATATC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	302	0.0033	108	c.-14 others(129): Show c.-143+13677_-143+13678insGATATATATATATATATATATATA TGTATATATATATATATATATATATATGGATATATATATATATATATATA TATGGATATATATATATATATATATGTGTATATA		MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10						chr5	TogoVar
MEGF6_chr1_3482951_3616508	3544177	A A	AGCATCAG others(101): Show AGCATCAGGCTAACCCTCTCCCCCCAGCGTCGCAGCGGCATCAGGCTAAC CCTCTCCCCCCAGCGTCGCAGCGGCATCAGGCTAACCCTCTCCCCCCAGC GTCGCAGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp1 NA19030.hp2 HG03225.hp2 NA19030.hp1 NA19030.hp2	a0008 a0089 a0092 a0008 a0089 a0092	a0008c0108 a0089c0074 a0092c0070 a0008c0108 a0089c0074 a0092c0070	a0008c0108t0023 a0089c0074t0008 a0092c0070t0029 a0008c0108t0023 a0089c0074t0008 a0092c0070t0029	a0008c0108t0023g0003 a0089c0074t0008g0240 a0092c0070t0029g0291 a0008c0108t0023g0003 a0089c0074t0008g0240 a0092c0070t0029g0291	3	292	0.0103	108	c.482 others(127): Show c.482-19932_482-19931insCGCTGCGACGCTGGGGGGAGAGGGTT AGCCTGATGCCGCTGCGACGCTGGGGGGAGAGGGTTAGCCTGATGCCGCT GCGACGCTGGGGGGAGAGGGTTAGCCTGATGC		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(101): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCA GACAACGCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0064 a0011c0011t0064	a0011c0011t0064g0292 a0011c0011t0064g0292	1	292	0.0034	108	c.377 others(125): Show c.377-3432_377-3431insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583522	G G	GCAGCCAC others(101): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0073 a0011c0011t0001g0073	1	292	0.0034	108	c.377 others(125): Show c.377-3594_377-3593insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583538	C C	CCACAGCC others(101): Show CCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0048 a0005c0005t0048	a0005c0005t0048g0127 a0005c0005t0048g0127	1	292	0.0034	108	c.377 others(125): Show c.377-3610_377-3609insCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583885	C C	CCCACAGC others(101): Show CCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAG ACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCACAGCCA CCAGACAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0021 a0001c0001t0047g0021	1	292	0.0034	108	c.377 others(125): Show c.377-3957_377-3956insATTGTCTGGTGGCTGTGCGTTGTCTGGT GGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTC TGGTGGCTGCGCGTTGTCTGGTGGCTGTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	G G	GAACCTCT others(101): Show GAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATATATAT AAAGAAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATAT ATATAAAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	346	0.0029	108	c.975 others(125): Show c.975+1800_975+1907dupTCTTTATATATATAAAGAAAAGAGGTTT CTTTATATATATAAAGAAAAGAGGTTTCTTTATATATATAAAGAAAAGAG GTTTCTTTATATATATAAAGAAAAGAGGTT		MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12						chr5	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(101): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAG GGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCA CACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02004.hp2 HG01943.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0311 a0001c0001t0005g0160 a0001c0001t0005g0311	2	399	0.0050	108	c.557 others(125): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCCGCCCCAGGGTGGGAACCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAGCCACACACACACCCCCCGCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATACACACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0010 a0003c0009t0010	a0003c0009t0010g0010 a0003c0009t0010g0010	1	340	0.0029	108	c.120 others(127): Show c.1201-5499_1201-5498insCACACACACACACACTATATATACAC ACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATACACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT ATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0234 a0001c0002t0004g0234	1	340	0.0029	108	c.120 others(127): Show c.1201-5499_1201-5498insCACACACACACACTATATATACACAC ACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	340	0.0029	108	c.120 others(127): Show c.1201-5499_1201-5498insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTAT ATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	340	0.0029	108	c.120 others(127): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT ATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(14): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00642.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01952.hp2 HG02602.hp2 HG03710.hp1 NA18955.hp1 NA18988.hp2 NA19010.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0002t0004 a0001c0022t0004 a0001c0002t0001 a0001c0002t0004 a0001c0022t0004	a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0180 others(14): Show a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0199 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0004g0177 a0001c0002t0004g0243 a0001c0002t0004g0245 a0001c0002t0004g0291 a0001c0002t0004g0309 a0001c0002t0004g0316 a0001c0002t0004g0335 a0001c0002t0004g0336 a0001c0022t0004g0151	17	340	0.0500	108	c.120 others(127): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19000.hp2 NA19080.hp1 NA18994.hp1 NA19000.hp2 NA19080.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0004 a0008c0014t0001 a0001c0002t0004 a0008c0014t0001	a0001c0002t0004g0149 a0001c0002t0004g0150 a0008c0014t0001g0217 a0001c0002t0004g0149 a0001c0002t0004g0150 a0008c0014t0001g0217	3	340	0.0088	108	c.120 others(127): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0157 a0001c0004t0002g0157	1	340	0.0029	108	c.120 others(127): Show c.1201-5497_1201-5496insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTGT ATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	340	0.0029	108	c.120 others(127): Show c.1201-5497_1201-5496insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT ATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00741.hp2 others(8): Show HG00597.hp2 HG00639.hp1 HG00741.hp2 HG01099.hp1 HG02040.hp1 NA18954.hp1 NA18965.hp1 NA18983.hp2 NA19063.hp2 NA19074.hp1 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0017 a0001c0002 a0001c0003 a0001c0017	a0001c0002t0001 a0001c0003t0003 a0001c0003t0006 others(2): Show a0001c0002t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0011 a0001c0017t0003	a0001c0002t0001g0042 a0001c0003t0003g0051 a0001c0003t0003g0068 others(8): Show a0001c0002t0001g0042 a0001c0003t0003g0051 a0001c0003t0003g0068 a0001c0003t0003g0079 a0001c0003t0003g0082 a0001c0003t0006g0239 a0001c0003t0006g0299 a0001c0003t0006g0320 a0001c0003t0011g0074 a0001c0003t0011g0104 a0001c0017t0003g0083	11	340	0.0324	108	c.120 others(127): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	340	0.0029	108	c.120 others(127): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0252 a0001c0007t0014g0252	1	340	0.0029	108	c.120 others(127): Show c.1201-5495_1201-5494insCACACACACACTATATATATACACAC ACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTAT ATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	340	0.0029	108	c.120 others(127): Show c.1201-5495_1201-5494insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 NA18951.hp1 others(1): Show HG02280.hp2 HG02818.hp1 NA18951.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015	a0001c0001t0002 a0001c0003t0003 a0001c0004t0003 others(1): Show a0001c0001t0002 a0001c0003t0003 a0001c0004t0003 a0001c0015t0003	a0001c0001t0002g0134 a0001c0003t0003g0067 a0001c0004t0003g0026 others(1): Show a0001c0001t0002g0134 a0001c0003t0003g0067 a0001c0004t0003g0026 a0001c0015t0003g0061	4	340	0.0118	108	c.120 others(127): Show c.1201-5493_1201-5492insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTGTATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0297	1	340	0.0029	108	c.120 others(127): Show c.1201-5493_1201-5492insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATATACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT ATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0322 a0001c0001t0002g0323	2	340	0.0059	108	c.120 others(127): Show c.1201-5493_1201-5492insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATATATACACACACACACTATA TATACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGT GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02647.hp1 HG02896.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0008 a0003c0009t0007g0009 a0003c0009t0007g0008 a0003c0009t0007g0009	2	340	0.0059	108	c.120 others(127): Show c.1201-5491_1201-5490insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(101): Show GTATATATATATATATATATATATATATATATATACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	340	0.0029	108	c.120 others(127): Show c.1201-5491_1201-5490insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATATATATA		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726145	A A	ATATATAT others(101): Show ATATATATATATATATATATATATATATATATATACACACACACACACTA TATATACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGT GTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	340	0.0029	108	c.120 others(127): Show c.1201-5490_1201-5489insACACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGT ATATATATATATATATATATATATATATATAT		MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
MFGE8_chr15_88893683_88918379	88909876	T T	TAAAAAAA others(101): Show TAAAAAAAAAAAAGAAATATAAAAAAAAAAAAAAAAAAAAAAATAAAATT AAAATCAAAAAAAAAGAAAAAATTAAAAAATAAATAATAAATATATAAAT AAAAAATCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01934.hp2 HG01934.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0217 a0012c0016t0002g0217	1	436	0.0023	108	c.120 others(115): Show c.120_121insTGATTTTTTATTTATATATTTATTATTTATTTTTTAAT TTTTTCTTTTTTTTTGATTTTAATTTTATTTTTTTTTTTTTTTTTTTTTT TATATTTCTTTTTTTTTTTT	p.Glu others(119): Show p.Glu40_Ile41insTerPhePheIleTyrIlePheIleIleTyrPheL euIlePheSerPhePheLeuIleLeuIleLeuPhePhePhePhePhePhe PheLeuTyrPhePhePhePhePhe	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding	2/8	180/1936	120/1164	40/387			chr15	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATTTATAT others(101): Show ATTTATATATATATATATATATATATAAATATATATATATATATATATAA ATATATATATATATATATATATATAAATATATATATATATATATATATAT ATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	316	0.0032	108	c.500 others(125): Show c.5004+564_5004+565insATATATATATATATATATATATAAATAT ATATATATATATATATAAATATATATATATATATATATATATAAATATAT ATATATATATATATATATATTTTTTTTTTT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86110296	C C	CTATATAT others(101): Show CTATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATA TATAGACTATATATATATAGTCTATATATATAGACTATATATATATAGTC TATATATAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0143 a0001c0001t0066g0143	1	186	0.0054	108	c.-56 others(127): Show c.-56-60574_-56-60573insCTATATATAGACTATATATATATAGT CTATATATATAGACTATATATATATAGTCTATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATA		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876697	G G	GGGTTATG others(101): Show GGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGA GGTTATGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0248 a0002c0005t0002g0248	1	274	0.0037	108	c.224 others(127): Show c.2242-4675_2242-4674insTCCATAACCTCCATAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GAGAAGTT others(101): Show GAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAG GGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 NA19240.hp1 HG02922.hp2 HG03041.hp2 NA19240.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0009 a0006c0009t0028 a0006c0009t0002 a0006c0009t0009 a0006c0009t0028	a0006c0009t0002g0030 a0006c0009t0009g0242 a0006c0009t0028g0241 a0006c0009t0002g0030 a0006c0009t0009g0242 a0006c0009t0028g0241	3	274	0.0110	108	c.224 others(127): Show c.2242-4816_2242-4815insATAACCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAACCTCCCTAA CCTTCATAACCTCCCTAACCTCCATAACTTCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876865	G G	GGGAGGTT others(101): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0026 a0026	a0026c0050 a0026c0050	a0026c0050t0001 a0026c0050t0001	a0026c0050t0001g0165 a0026c0050t0001g0165	1	274	0.0037	108	c.224 others(127): Show c.2242-4843_2242-4842insATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876865	G G	GGGAGGTT others(101): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	274	0.0037	108	c.224 others(127): Show c.2242-4843_2242-4842insATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876874	G G	GGGAGGTT others(101): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0257 a0002c0003t0004g0257	1	274	0.0037	108	c.224 others(127): Show c.2242-4852_2242-4851insATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)