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
MAEA_chr4_1284891_1345137	1334073	TGTGCTCA others(25): Show TGTGCTCACCCCTGCACCCATCCCATGCCTACC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG01255.hp2 HG02280.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0117 a0001c0002t0001g0120 others(1): Show a0001c0002t0001g0093 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0122	4	388	0.0103	-32	c.765 others(49): Show c.765+1220_765+1251delTGCACCCATCCCATGCCTACCGTGCTCA CCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334088	ACCCATCC others(25): Show ACCCATCCCATGCCTACCGTGCTCACCCCCATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03516.hp2 NA18945.hp2 HG02622.hp2 HG03516.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0184 a0001c0001t0001g0234 a0001c0014t0001g0298 a0001c0001t0001g0184 a0001c0001t0001g0234 a0001c0014t0001g0298	3	388	0.0077	-32	c.765 others(49): Show c.765+1228_765+1259delTCCCATGCCTACCGTGCTCACCCCCATG CCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334093	TCCCATGC others(25): Show TCCCATGCCTACCGTGCTCACCCCCATGCCCAC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18993.hp1 NA19010.hp2 others(1): Show NA18981.hp1 NA18993.hp1 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0232 a0001c0001t0016g0224	4	388	0.0103	-32	c.765 others(49): Show c.765+1237_765+1268delTACCGTGCTCACCCCCATGCCCACCCCA TGCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI1_chr3_65348526_66043918	65891885	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp2 HG03942.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0002c0002t0001g0069 a0001c0001t0001g0093 a0002c0002t0001g0069	2	104	0.0192	-32	c.313 others(53): Show c.313+146079_313+146110delATATATATATATATATATATATAT ATATATAT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65950959	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03492.hp2 HG02040.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0028 a0001c0001t0001g0033	2	104	0.0192	-32	c.313 others(51): Show c.313+87005_313+87036delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78070534	GTACATAT others(25): Show GTACATATGTATATATGTGTATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02897.hp1 others(4): Show HG01261.hp1 HG02451.hp1 HG02897.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013	a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0013t0001	a0001c0002t0001g0028 a0001c0003t0006g0032 a0001c0004t0001g0031 others(4): Show a0001c0002t0001g0028 a0001c0003t0006g0032 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0013t0001g0039	7	40	0.1750	-32	c.370 others(51): Show c.3706+8381_3706+8412delTATATACATATATACACATATATACA TATGTA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79378940	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03130.hp1 NA18522.hp1 others(2): Show HG00738.hp1 HG03130.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0015 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show a0001c0001t0001g0015 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0003t0001g0011 a0001c0003t0002g0012	5	40	0.1250	-32	c.301 others(51): Show c.301+74048_301+74079delAATATATATATATATATATATATATA TATATA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238208	TATATGTA others(25): Show TATATGTAATATACATAATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0059 a0008c0006t0001g0059	1	152	0.0066	-32	c.299 others(53): Show c.2992-19393_2992-19362delATATATTATATATAATATGTAATA TACATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306313	GTATATAG others(25): Show GTATATAGTATATATAGTGTCGTATATATACCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03041.hp2 HG03209.hp1 others(4): Show HG00741.hp1 HG03041.hp2 HG03209.hp1 HG06807.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0013 a0014 a0051 others(3): Show a0013 a0014 a0051 a0073 a0077 a0078	a0013c0067 a0014c0068 a0014c0116 others(4): Show a0013c0067 a0014c0068 a0014c0116 a0051c0037 a0073c0031 a0077c0086 a0078c0087	a0013c0067t0001 a0014c0068t0001 a0014c0116t0002 others(4): Show a0013c0067t0001 a0014c0068t0001 a0014c0116t0002 a0051c0037t0001 a0073c0031t0001 a0077c0086t0002 a0078c0087t0003	a0013c0067t0001g0003 a0014c0068t0001g0079 a0014c0116t0002g0085 others(4): Show a0013c0067t0001g0003 a0014c0068t0001g0079 a0014c0116t0002g0085 a0051c0037t0001g0121 a0073c0031t0001g0136 a0077c0086t0002g0074 a0078c0087t0003g0106	7	152	0.0461	-32	c.342 others(53): Show c.3420-17604_3420-17573delATATATAGTATATATAGTGTCGTA TATATACC	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19306372	ATACCGTG others(25): Show ATACCGTGTATAGTATATATAGTGTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03041.hp2 HG03209.hp1 others(5): Show HG00741.hp1 HG03041.hp2 HG03209.hp1 HG06807.hp2 NA19043.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0006 a0013 a0014 others(4): Show a0006 a0013 a0014 a0051 a0073 a0077 a0078	a0006c0004 a0013c0067 a0014c0068 others(5): Show a0006c0004 a0013c0067 a0014c0068 a0014c0116 a0051c0037 a0073c0031 a0077c0086 a0078c0087	a0006c0004t0001 a0013c0067t0001 a0014c0068t0001 others(5): Show a0006c0004t0001 a0013c0067t0001 a0014c0068t0001 a0014c0116t0002 a0051c0037t0001 a0073c0031t0001 a0077c0086t0002 a0078c0087t0003	a0006c0004t0001g0133 a0013c0067t0001g0003 a0014c0068t0001g0079 others(5): Show a0006c0004t0001g0133 a0013c0067t0001g0003 a0014c0068t0001g0079 a0014c0116t0002g0085 a0051c0037t0001g0121 a0073c0031t0001g0136 a0077c0086t0002g0074 a0078c0087t0003g0106	8	152	0.0526	-32	c.342 others(53): Show c.3420-17477_3420-17446delCGTGTATAGTATATATAGTGTCGT ATATGTAC	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19447041	AACACACA others(25): Show AACACACACACACACACACACATACACAGACAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02074.hp2 HG02132.hp1 others(5): Show HG01074.hp1 HG02074.hp2 HG02132.hp1 HG03669.hp2 NA18964.hp2 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0002 a0021 a0022 others(5): Show a0002 a0021 a0022 a0023 a0024 a0068 a0075 a0083	a0002c0027 a0021c0011 a0022c0010 others(5): Show a0002c0027 a0021c0011 a0022c0010 a0023c0112 a0024c0113 a0068c0078 a0075c0030 a0083c0054	a0002c0027t0001 a0021c0011t0001 a0022c0010t0001 others(5): Show a0002c0027t0001 a0021c0011t0001 a0022c0010t0001 a0023c0112t0001 a0024c0113t0001 a0068c0078t0002 a0075c0030t0001 a0083c0054t0001	a0002c0027t0001g0060 a0021c0011t0001g0102 a0022c0010t0001g0141 others(5): Show a0002c0027t0001g0060 a0021c0011t0001g0102 a0022c0010t0001g0141 a0023c0112t0001g0037 a0024c0113t0001g0038 a0068c0078t0002g0068 a0075c0030t0001g0125 a0083c0054t0001g0036	8	152	0.0526	-32	c.484 others(51): Show c.4846-3244_4846-3213delTACACAGACACACACACACACACACA CACACA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	28/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547800	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02615.hp1 HG02717.hp2	a0046 a0072 a0046 a0072	a0046c0035 a0072c0055 a0046c0035 a0072c0055	a0046c0035t0001 a0072c0055t0001 a0046c0035t0001 a0072c0055t0001	a0046c0035t0001g0126 a0072c0055t0001g0108 a0046c0035t0001g0126 a0072c0055t0001g0108	2	152	0.0132	-32	c.547 others(53): Show c.5478+16451_5478+16482delATATATATATATATATATTTTTTT TTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC4_chr9_136847346_136865799	136848881	GCCTTCGG others(25): Show GCCTTCGGGCGGTGGACGGGGAAGAGAGGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-32	c.-35 others(43): Show c.-3535_-3504delCCTTCGGGCGGTGGACGGGGAAGAGAGGGAGT	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding		3464		chr9	TogoVar
MAML3_chr4_139711753_140159184	140092076	GTATATAT others(25): Show GTATATATATACGTATATATATATATACGTATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0001 a0001c0027t0001 a0001c0002t0001 a0001c0027t0001	a0001c0002t0001g0098 a0001c0027t0001g0065 a0001c0002t0001g0098 a0001c0027t0001g0065	2	152	0.0132	-32	c.468 others(51): Show c.468+60752_468+60783delTATACGTATATATATATATACGTATA TATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150481960	AGAAAAAA others(25): Show AGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0024 a0009c0009t0001g0024	1	226	0.0044	-32	c.204 others(51): Show c.2040+8159_2040+8190delGAAAAAAGAAAGAAAGAAAGAAAGAA AGAAAG	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7			chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0038 a0002c0012t0002g0038	1	226	0.0044	-32	c.204 others(51): Show c.2040+8201_2040+8232delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMSTR_chr19_48707725_48724725	48707883	GAAAGAAA others(25): Show GAAAGAAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA20300.hp1 HG00733.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0071 a0002c0004t0002g0076 a0002c0004t0002g0071 a0002c0004t0002g0076	2	386	0.0052	-32	c.53 others(43): Show c.5352_*5383delTTTCTTTCTTCCTTTCTTTCTTTCTTTTCTTT	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4841		chr19	TogoVar
MANSC1_chr12_12321056_12355242	12344916	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0058 a0001c0005t0058	a0001c0005t0058g0053 a0001c0005t0058g0053	1	322	0.0031	-32	c.-10 others(51): Show c.-100-1534_-100-1503delATATATATATATATATATATATATAT ATATAT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	1/3			chr12	TogoVar
MAOB_chrX_43761610_43887450	43857110	TATATATA others(25): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	234	0.0043	-32	c.47- others(49): Show c.47-13378_47-13347delCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560188	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03704.hp2 HG02615.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0015 a0001c0001t0015 a0002c0002t0015	a0001c0001t0015g0040 a0002c0002t0015g0041 a0001c0001t0015g0040 a0002c0002t0015g0041	2	446	0.0045	-32	c.-10 others(49): Show c.-102+777_-102+808delATATATATATATATATATATATATATAT ATAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K4_chr17_12015877_12148828	12069890	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp1 HG03471.hp1 HG02647.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248	3	322	0.0093	-32	c.219 others(51): Show c.219-11435_219-11404delATATATATATATATATATATATATAT ATATAT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67739442	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02809.hp2 others(1): Show HG01891.hp2 HG02559.hp1 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0001g0208 others(1): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0001g0208 a0001c0002t0002g0143	4	278	0.0144	-32	c.107 others(51): Show c.1075-8787_1075-8756delATATATATATATATATATATTTTTTT TTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739450	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	278	0.0036	-32	c.107 others(51): Show c.1075-8779_1075-8748delATATATATATATTTTTTTTTTTTTTT TTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02683.hp2 HG03209.hp2 others(4): Show HG01515.hp1 HG02683.hp2 HG03209.hp2 HG03710.hp2 HG04115.hp2 HG04228.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107	7	328	0.0213	-32	c.-38 others(47): Show c.-38+487_-38+518delCACACACACACACACACACACACACACACA CA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185453824	GAGATATA others(25): Show GAGATATATATATATGATACATATATATGAGAT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03130.hp2 HG03139.hp1 HG02897.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0025 a0001c0001t0010 a0001c0001t0025	a0001c0001t0010g0043 a0001c0001t0010g0210 a0001c0001t0025g0016 a0001c0001t0010g0043 a0001c0001t0010g0210 a0001c0001t0025g0016	3	278	0.0108	-32	c.127 others(51): Show c.1278+2431_1278+2462delGATATATATATATGATACATATATAT GAGATA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453826	GATATATA others(25): Show GATATATATATATGATACATATATATGAGATAT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02273.hp2 HG02300.hp1 others(3): Show HG02071.hp2 HG02273.hp2 HG02300.hp1 NA18954.hp2 NA18960.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0065 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0065 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0171	6	278	0.0216	-32	c.127 others(51): Show c.1278+2440_1278+2471delATATGATACATATATATGAGATATAT ATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19490140	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp1 HG02055.hp1 others(8): Show HG01192.hp1 HG01515.hp1 HG02055.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03239.hp2 NA18947.hp2 NA19005.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0018	a0001c0001 a0002c0003 a0002c0023 others(3): Show a0001c0001 a0002c0003 a0002c0023 a0003c0004 a0004c0005 a0018c0025	a0001c0001t0004 a0002c0003t0007 a0002c0023t0011 others(3): Show a0001c0001t0004 a0002c0003t0007 a0002c0023t0011 a0003c0004t0001 a0004c0005t0010 a0018c0025t0004	a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 others(8): Show a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0012 a0002c0003t0007g0142 a0002c0023t0011g0002 a0003c0004t0001g0127 a0004c0005t0010g0007 a0004c0005t0010g0009 a0018c0025t0004g0017	11	163	0.0675	-32	c.362 others(49): Show c.362-1205_362-1174delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233368507	TAGCTGGG others(25): Show TAGCTGGGCATAGTGGTGCATGCCTGTAGTACC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02886.hp1 others(3): Show HG02723.hp2 HG02818.hp1 HG02886.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0024 a0001c0001 a0019c0024	a0001c0001t0001 a0019c0024t0001 a0001c0001t0001 a0019c0024t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0186 a0001c0001t0001g0187 a0019c0024t0001g0032	6	372	0.0161	-32	c.155 others(51): Show c.1553-3526_1553-3495delGGGCATAGTGGTGCATGCCTGTAGTA CCAGCT	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP4K1_chr19_38582641_38622953	38590388	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18991.hp1 HG02071.hp1 HG02080.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0304 a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0304	3	348	0.0086	-32	c.239 others(51): Show c.2397-2603_2397-2572delATATATATATATATATATATATATAT TTTTTT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30			chr19	TogoVar
MAP4K1_chr19_38582641_38622953	38590390	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02074.hp1 others(5): Show HG00423.hp2 HG00558.hp2 HG02074.hp1 HG02135.hp2 NA18612.hp2 NA18969.hp1 NA18999.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0163	8	348	0.0230	-32	c.239 others(51): Show c.2397-2605_2397-2574delATATATATATATATATATATATATAT ATTTTT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30			chr19	TogoVar
MAP4K1_chr19_38582641_38622953	38603070	ATACATAT others(25): Show ATACATATATACACATGTACATATATACACATG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	348	0.0029	-32	c.144 others(51): Show c.1447-1577_1447-1546delCATGTGTATATATGTACATGTGTATA TATGTA	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	19/30			chr19	TogoVar
MAP7D1_chr1_36151160_36185849	36163785	TATAAGTT others(25): Show TATAAGTTGCCACATAGATATATACTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19083.hp1 NA19054.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0239 a0001c0001t0002g0219 a0001c0001t0002g0239	2	378	0.0053	-32	c.47- others(47): Show c.47-7185_47-7154delATAAGTTGCCACATAGATATATACTTTTTT TC	MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	1/16			chr1	TogoVar
MAP7D2_chrX_20001713_20121907	20094510	ATATATGT others(25): Show ATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19067.hp1 NA19030.hp2 NA19067.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0015 a0002c0002 a0010c0015	a0002c0002t0010 a0010c0015t0008 a0002c0002t0010 a0010c0015t0008	a0002c0002t0010g0209 a0010c0015t0008g0165 a0002c0002t0010g0209 a0010c0015t0008g0165	2	210	0.0095	-32	c.130 others(51): Show c.130+22208_130+22239delCATATATATATATATATATATATATA CATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPK14_chr6_36022808_36116236	36029871	TTACATTC others(25): Show TTACATTCAGTATATACATATTATATAGGTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp2 others(46): Show HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00741.hp1 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18943.hp2 NA18953.hp2 NA18966.hp1 NA18967.hp2 NA18987.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19068.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0005g0007 others(43): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0005g0007 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0007g0017 a0001c0001t0007g0301 a0001c0001t0007g0303 a0001c0001t0010g0264 a0001c0001t0010g0265 a0001c0001t0013g0277 a0001c0001t0013g0298 a0001c0001t0014g0273 a0001c0001t0014g0291 a0001c0001t0015g0302 a0001c0001t0023g0047 a0001c0001t0024g0272 a0001c0001t0025g0285 a0001c0001t0026g0263 a0001c0001t0027g0293	49	342	0.1433	-32	c.116 others(49): Show c.116+1657_116+1688delGGTATATACATTCAGTATATACATATTA TATA	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK15_chr8_143711349_143727458	143711713	CCACCACA others(25): Show CCACCACAGCTGGGCCAGCCTCCTCCGGACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0001 a0010c0016t0001g0001	2	397	0.0050	-32	c.-46 others(43): Show c.-4664_-4633delCACCACAGCTGGGCCAGCCTCCTCCGGACCCT	MAPK15	ENSG00000181085.15	transcript	ENST00000338033.9	protein_coding		4635		chr8	TogoVar
MAPK15_chr8_143711349_143727458	143711724	GGGCCAGC others(25): Show GGGCCAGCCTCCTCCGGACCCTCACCACAGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	397	0.0025	-32	c.-46 others(43): Show c.-4653_-4622delGGCCAGCCTCCTCCGGACCCTCACCACAGCCA	MAPK15	ENSG00000181085.15	transcript	ENST00000338033.9	protein_coding		4624		chr8	TogoVar
MAPK15_chr8_143711349_143727458	143711750	ACAGCCAG others(25): Show ACAGCCAGGCCAGCCTCCCTTCCCACCCCTCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp1 others(50): Show HG00323.hp2 HG00642.hp1 HG00733.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0002c0005 a0003c0004 a0003c0025 a0003c0034 a0008c0010	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0002c0003t0001 a0002c0005t0001 a0003c0004t0001 a0003c0025t0001 a0003c0034t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0002t0001g0005 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0045 a0001c0015t0001g0027 a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0005t0001g0007 a0002c0005t0001g0030 a0002c0005t0001g0063 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0025t0001g0004 a0003c0034t0001g0008 a0008c0010t0001g0012	53	397	0.1335	-32	c.-46 others(43): Show c.-4627_-4596delCAGCCAGGCCAGCCTCCCTTCCCACCCCTCCG	MAPK15	ENSG00000181085.15	transcript	ENST00000338033.9	protein_coding		4598		chr8	TogoVar
MAPK1_chr22_21754657_21872645	21845890	CTTCAGTG others(25): Show CTTCAGTGAGGAACTTATTCCTGTCTTCATTCA	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	348	0.0029	-32	c.119 others(51): Show c.119+21400_119+21431delTGAATGAAGACAGGAATAAGTTCCTC ACTGAA	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK8IP1_chr11_45880651_45911465	45889780	GATGGTTG others(25): Show GATGGTTGCCATCTGCCCCAGCACCCTGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	392	0.0026	-32	c.101 others(49): Show c.101+3860_101+3891delATGGTTGCCATCTGCCCCAGCACCCTGC CTCA	MAPK8IP1	ENSG00000121653.11	transcript	ENST00000241014.6	protein_coding	1/11			chr11	TogoVar
MAPT_chr17_45889554_46033334	45956548	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(16): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 others(16): Show a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0006 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0002 a0003c0004t0011g0015 a0003c0004t0015g0014 a0003c0004t0016g0007	19	253	0.0751	-32	c.-17 others(49): Show c.-17-5751_-17-5720delATATATATATATATATATATATATATAT ATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163638132	ACCTAATG others(25): Show ACCTAATGCTAGATGACGAGTTAGTGGGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	102	0.0098	-32	c.163 others(51): Show c.163-24771_163-24740delCTGCACCCACTAACTCGTCATCTAGC ATTAGG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164346604	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02559.hp2 others(4): Show HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp2 HG03139.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0015 a0001c0002t0027 a0001c0005t0016 a0002c0004t0029	a0001c0001t0001g0102 a0001c0001t0006g0098 a0001c0001t0007g0049 others(4): Show a0001c0001t0001g0102 a0001c0001t0006g0098 a0001c0001t0007g0049 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0005t0016g0048 a0002c0004t0029g0047	7	102	0.0686	-32	c.-32 others(53): Show c.-323+37234_-323+37265delTATATATATATATATATATATATA TATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF4_chr2_216252865_216377483	216259152	TGCACCAG others(25): Show TGCACCAGCCTCACTCCCGCTCTGACACTACCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0011 a0001c0001t0032g0011	1	330	0.0030	-32	c.12 others(41): Show c.128_*159delGGGTAGTGTCAGAGCGGGAGTGAGGCTGGTGC	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	4/4	128		chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03834.hp2 HG03453.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0004 a0002c0006t0025 a0001c0001t0004 a0002c0006t0025	a0001c0001t0004g0257 a0002c0006t0025g0322 a0001c0001t0004g0257 a0002c0006t0025g0322	2	330	0.0061	-32	c.516 others(51): Show c.516+14822_516+14853delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92347499	TAGATAGA others(25): Show TAGATAGATAGATAGATAGATAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	306	0.0033	-32	c.370 others(49): Show c.370-1849_370-1818delAGATAGATAGATAGATAGATAGATGATA GATA	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	3/5			chr10	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(25): Show CTATATAACTATATAACTATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0188 a0001c0001t0136g0188	1	284	0.0035	-32	c.19 others(43): Show c.1946_*1977delACTATATAACTATATATATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(25): Show CTATATAACTATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG03471.hp2 HG03491.hp2 others(2): Show HG01192.hp1 HG03471.hp2 HG03491.hp2 NA19001.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0106 a0001c0001t0111 others(2): Show a0001c0001t0099 a0001c0001t0106 a0001c0001t0111 a0001c0001t0112 a0001c0001t0156	a0001c0001t0099g0034 a0001c0001t0106g0098 a0001c0001t0111g0030 others(2): Show a0001c0001t0099g0034 a0001c0001t0106g0098 a0001c0001t0111g0030 a0001c0001t0112g0107 a0001c0001t0156g0116	5	284	0.0176	-32	c.19 others(43): Show c.1954_*1985delACTATATATATATATATATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCO_chr2_118937194_118999660	118986640	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03491.hp1 HG03516.hp1 others(3): Show HG02451.hp1 HG03491.hp1 HG03516.hp1 HG03704.hp1 NA18971.hp2 NA19003.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0005c0014	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0002c0002t0001 a0005c0014t0001	a0001c0001t0001g0188 a0001c0001t0001g0259 a0001c0003t0001g0223 others(3): Show a0001c0001t0001g0188 a0001c0001t0001g0259 a0001c0003t0001g0223 a0001c0015t0001g0209 a0002c0002t0001g0335 a0005c0014t0001g0285	6	394	0.0152	-32	c.106 others(51): Show c.1064-3933_1064-3902delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARVELD1_chr10_97708730_97723150	97711358	GTGGGAGG others(25): Show GTGGGAGGCTGAGGCAGGAGAATCGCTTGAACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0001 a0001c0002t0023g0001	1	428	0.0023	-32	c.-25 others(43): Show c.-2518_-2487delTGGGAGGCTGAGGCAGGAGAATCGCTTGAACC	MARVELD1	ENSG00000155254.13	transcript	ENST00000285605.8	protein_coding		2371		chr10	TogoVar
MASP2_chr1_11021523_11052239	11033937	ACACACAC others(25): Show ACACACACACACACACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG03669.hp1 others(11): Show HG00609.hp2 HG00673.hp2 HG03669.hp1 HG04228.hp1 NA18941.hp2 NA18954.hp1 NA18956.hp1 NA18970.hp2 NA18991.hp2 NA18993.hp1 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0293 a0003c0003t0001g0277 a0003c0003t0001g0278 others(11): Show a0002c0002t0002g0293 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0282 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0306	14	346	0.0405	-32	c.108 others(49): Show c.1087+859_1087+890delAGAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	8/10			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)