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
GOLGA3_chr12_132763914_132833869	132779814	TGCACACA others(191): Show TGCACACACACCACAGCCCTTGCACGGACACCCCCCCGCGCACATACACA CACCTCAGGCACACACGTGTGTACAGACATCACAACTCTTGCACGCACAG CCCCCCGCATGCACACAACCCAGGCACACACGCGTATACAGACATCACAA CCCTTCCACGCACAGCCCGCGTGCACACACACCCCAGGCACACACGTGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 NA18522.hp1 HG02818.hp2 HG02896.hp1 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0071 a0009c0015t0078 a0009c0015t0080 a0001c0001t0071 a0009c0015t0078 a0009c0015t0080	a0001c0001t0071g0050 a0009c0015t0078g0066 a0009c0015t0080g0065 a0001c0001t0071g0050 a0009c0015t0078g0066 a0009c0015t0080g0065	3	308	0.0097	-198	c.358 others(17): Show c.3582+786_3582+983del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	18/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817635	GGTGAACC others(191): Show GGTGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCA CTCCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAG GTGAACCCACCCTCCACACCTCCACGCTCTAAGGTGAACCCGCCCTCCAC TCCTCCACGCTCTAAGGTGAACCCGCACTCCACACCTCCACACTCTAAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01167.hp1 HG01169.hp1 others(7): Show HG00423.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG02109.hp1 HG02258.hp1 HG02896.hp2 HG03195.hp2 NA18948.hp1 NA20129.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0029 a0001c0001 a0002c0002 a0018c0029	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0012 a0002c0002t0056 a0018c0029t0061	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0003g0112 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0003g0112 a0002c0002t0002g0174 a0002c0002t0002g0187 a0002c0002t0002g0206 a0002c0002t0002g0215 a0002c0002t0012g0209 a0002c0002t0056g0195 a0018c0029t0061g0103	10	308	0.0325	-198	c.134 others(16): Show c.134-1021_134-824del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
HACL1_chr3_15555699_15606569	15592577	CATGTGTG others(191): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	428	0.0023	-198	c.228 others(16): Show c.228-1095_228-898del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
IL3RA_chrX_1331785_1387689	1365265	TGCGGGGT others(191): Show TGCGGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGG GGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGA GCCGGGTGCGCGGGGTGAGCCGGCTGCGCGGGGTGAGCGGGGTGAGCGGG GTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG02451.hp1 others(1): Show HG01069.hp1 HG01070.hp1 HG02451.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0085 a0001c0001t0006g0086 others(1): Show a0001c0001t0006g0078 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0100	4	115	0.0348	-198	c.874 others(14): Show c.874+22_874+219del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IQGAP2_chr5_76398285_76713132	76699605	TTCTCTCT others(191): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTC AGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02630.hp2 HG01258.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0116 a0001c0003t0002g0073 a0001c0002t0002g0116 a0001c0003t0002g0073	2	222	0.0090	-198	c.436 others(19): Show c.4368-1428_4368-1231del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITIH2_chr10_7698316_7754520	7737747	AATATTCT others(191): Show AATATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATAA TATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATATTA TATATTATATTCTATATATTATATATTATATTCTATATATTATATATTAT ATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	380	0.0026	-198	c.195 others(17): Show c.1958-868_1958-671del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593499	CCCCTGTA others(191): Show CCCCTGTAGACTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGC CACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCAC CCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCC ACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0032 a0001c0054 a0001c0032 a0001c0054	a0001c0032t0001 a0001c0054t0001 a0001c0032t0001 a0001c0054t0001	a0001c0032t0001g0277 a0001c0054t0001g0009 a0001c0032t0001g0277 a0001c0054t0001g0009	2	342	0.0059	-198	c.940 others(17): Show c.940-7628_940-7431del		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13						chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1990800	GTGCTGCG others(191): Show GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGG TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGC GCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19043.hp1 HG02602.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0202 a0001c0001t0003g0042 a0001c0001t0001g0202 a0001c0001t0003g0042	2	389	0.0051	-198	c.-90 others(19): Show c.-908-9452_-908-9255del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990840	GGGGCCTT others(191): Show GGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTG TCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCG GGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGT CCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCC	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18971.hp2 NA18992.hp1 NA18948.hp1 NA18971.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0249 a0001c0001t0001g0011 a0001c0001t0001g0249	3	389	0.0077	-198	c.-90 others(19): Show c.-908-9419_-908-9222del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990866	GTGCTGCG others(191): Show GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGG TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGC GCCCTGTCCGGGTAGATGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG00741.hp2 others(6): Show HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp2 HG01261.hp1 HG01952.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0060	a0001c0001t0005g0167 a0001c0001t0009g0362 a0001c0001t0009g0363 others(6): Show a0001c0001t0005g0167 a0001c0001t0009g0362 a0001c0001t0009g0363 a0001c0001t0009g0365 a0001c0001t0009g0366 a0001c0001t0016g0179 a0001c0001t0022g0177 a0001c0001t0022g0178 a0001c0001t0060g0358	9	389	0.0231	-198	c.-90 others(19): Show c.-908-9386_-908-9189del		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD3_chr11_106046098_106082347	106061843	TAGTACAA others(191): Show TAGTACAAATACATATACATATATGTGTGTGTGTATATATATATCCCTTT AGTTCTGTTTTTCTGAATAAGTCAGATTAATACATCTGCCTAGTGACTAC TATATTATACAAAGCAAATATAAAACATTCTCATCATCACAGAAAGTTCC ACTGGATAGCCATTACACTGTGTGGAAAAATAGCGTGCCTGTGTGAATG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	2	366	0.0055	-198	c.-12 others(17): Show c.-12-2932_-12-2735del		KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	2/3						chr11	TogoVar
KCNIP4_chr4_20723606_21953772	20931872	GATAATAG others(191): Show GATAATAGTCTATAAGAGTCTAATATTGTAGACTATAATAGTCTATAACA GTCTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACT ATAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAG TCTAATATTGTAGACAATAATAGTCTATAACAGTCTAATATTGTAGACT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG02622.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0018 a0001c0001t0002g0001 a0001c0001t0003g0018	2	80	0.0250	-198	c.62- others(17): Show c.62-49361_62-49164del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63432126	AGGGAAGG others(191): Show AGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACAC CCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCT CCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAA GTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0080 a0001c0002t0012 a0001c0002t0080	a0001c0002t0012g0037 a0001c0002t0080g0236 a0001c0002t0012g0037 a0001c0002t0080g0236	2	330	0.0061	-198	c.111 others(17): Show c.1119-955_1119-758del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
LATS2_chr13_20968036_21066586	21007538	ATATATAG others(191): Show ATATATAGTATATATATATATATATATATATATATATATATATATATATA GTATATATATATATAGTGTGTATATATATATATAGTGTATATATATATAT ATATATAGTGTGTGTATATATATATAGTGTGTATATATATATATAGTATA TATATATATATAGTATGTATATATATATATATATAGTATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0023 a0002c0024t0023	a0002c0024t0023g0038 a0002c0024t0023g0038	1	316	0.0032	-198	c.343 others(19): Show c.343-16332_343-16135del		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LTBP1_chr2_32941953_33404509	33057076	CACAGAGT others(191): Show CACAGAGTGCTGATTGGTGCATTTACAAACCTTGAACTAGAGACAGAGTG CTGATTGGTGTATTCACAATCCCTTAGCTAGACATAATGATCCAAGTCCC CACCAGATTAGCTAGATACAGAGTGCCGATTGGTGCATCCACAAATCCTG AGCTAGAGACAGGGTGCTAATTGGTGTGTTTACAAACCTTGAGCTAGAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02602.hp2 HG00738.hp1 HG02602.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0036 a0001c0003 a0006c0036	a0001c0003t0005 a0006c0036t0002 a0001c0003t0005 a0006c0036t0002	a0001c0003t0005g0146 a0006c0036t0002g0118 a0001c0003t0005g0146 a0006c0036t0002g0118	2	164	0.0122	-198	c.863 others(19): Show c.863+35881_863+36078del		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1827545	GCCTCCCC others(191): Show GCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGCATCCTCCCCTCCTGAGCC CGTCCCGGGTGTGGGGTCCTCCCCTCCTGAGCCCCGCCCGGGTGTGGGGG CCTCCCCTCCTGAGCCCGGCCCGGGTGTGGGGGCCTCCCCTCCTGAGCCC GTCCCGGGTGTGGGGGCCTCCCCTCCTGAGCCCTGCGTGGCTGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02647.hp1 others(4): Show HG02055.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03041.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 others(4): Show a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162	7	264	0.0265	-198	c.199 others(21): Show c.1999-11515_1999-11318del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2161827	ACCGGCCG others(191): Show ACCGGCCGCCCTGTCTGGGAAGTGAGGAGCCCCTCTGCCCAGCAGCCGCC CTGTCCGGGAGGTGGGGGGCAGCCCCCGCCCGCCAGCCAGCCCGTCCGGG AGGTGGGGGGCAGCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGTGGGG GGCGGCCCCCGCCCATCCGGGAGGTGGGGGGCGGCCCCTGCCCATCCAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	264	0.0038	-198	c.987 others(19): Show c.987-12787_987-12590del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18						chr7	TogoVar
MCF2L_chr13_112964214_113104742	113069245	GCCAGCTA others(191): Show GCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGT GGTGCACAGCTGGAGTCCCAGCTACGCAGAGGCAGAGGTCGCAGTGAGCC GAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGCGGAGGCA GAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0025 a0001c0012t0031 a0001c0005t0025 a0001c0012t0031	a0001c0005t0025g0016 a0001c0012t0031g0021 a0001c0005t0025g0016 a0001c0012t0031g0021	2	116	0.0172	-198	c.882 others(15): Show c.882-737_882-540del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MEGF6_chr1_3482951_3616508	3591611	GGCGAGGG others(191): Show GGCGAGGGGGCTGTTGGGGGCTGCTACCAAGGTCTCAGAGCTCACAAGGG ACCTGATGGGGGCGCCAGCGAGGCAGCTGGTGGGGGCTGCTACCAAGGTC TCGTAGCTCACAAGGGACCCGATGGGGGCGCCGGCAAGGGGGCTGTTGGG GGCTGCTACCAAGGTCTCGTAGCTCACAAGGGACCGGATGGGGGCACCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0052 a0052	a0052c0096 a0052c0096	a0052c0096t0007 a0052c0096t0007	a0052c0096t0007g0229 a0052c0096t0007g0229	1	292	0.0034	-198	c.376 others(17): Show c.376+3529_376+3726del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METAP1D_chr2_171994953_172087430	172042504	TATACATA others(191): Show TATACATATGTATGTGTACATGTGTACATATATACATATATGTGTGTATG TGTACATGTGCACATATATACATATATGTGTGTATGTGTACATGTGCACA TATATACATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTG TATATGTGTACACATATACGTGTGTATGTGTATATGTGTACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02922.hp2 HG00140.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0001g0285 a0001c0001t0001g0301	2	356	0.0056	-198	c.41- others(17): Show c.41-18993_41-18796del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9						chr2	TogoVar
MLPH_chr2_237482251_237560322	237544441	GGTAGTGA others(191): Show GGTAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGTGGTGAGTGGGGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGA GTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAG TGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACT	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	286	0.0035	-198	c.153 others(19): Show c.1539+1803_1540-1947del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1F_chr19_8515778_8582442	8543699	GTGGTGGT others(191): Show GTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGT GGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGG TGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0064 a0001c0001t0002g0065	2	342	0.0059	-198	c.152 others(17): Show c.1524+400_1524+597del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYT1L_chr2_1784113_2336275	2185798	GGGCCTTC others(191): Show GGGCCTTCCGGGCCTTCCCGAGTCCCGCGTTCCTTCTGTGAGGGGGACGC AGCCGGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGGGGACGCAGCCG GGCCTTCCGGGCCTTCCCAAGTCCCGCGTTCCTTCTGTGAGGCGGACGCA GCCGGGCCTCCCAGACGTCCGCGTTCCTTCCTTGAGGGGGACGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0001 a0001c0004t0009g0001	1	104	0.0096	-198	c.-42 others(21): Show c.-420-13008_-420-12811del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688134	TGTGTGTA others(191): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATATAT TATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0218 a0001c0001t0001g0013 a0001c0001t0001g0218	2	352	0.0057	-198	c.36 others(11): Show c.3637_*3834del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2771		chr15	TogoVar
NDC80_chr18_2566557_2621635	2614459	GAAAGAAA others(191): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01167.hp2 others(42): Show HG00438.hp2 HG00597.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18963.hp2 NA18965.hp1 NA18978.hp2 NA18979.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0161 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337	45	402	0.1119	-198	c.179 others(19): Show c.1792-1974_1792-1777del		NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241807488	CCTTCCCT others(191): Show CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-198	c.-17 others(11): Show c.-1789_-1592del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1704		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79525279	CGTTACCT others(191): Show CGTTACCTCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCT CCCCACGTCCCACCGTCGTTACCCCTCAGGCCTCCCCACGTCCCACCGTC GTTACCCCTCAGTCCTCCCCACGTCCCACCGTCGTTACCTCTCAGTCCTC CCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG02027.hp2 others(8): Show HG01074.hp1 HG01106.hp2 HG02027.hp2 HG02257.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0055 a0002c0002 others(2): Show a0001c0005 a0001c0055 a0002c0002 a0002c0019 a0002c0026	a0001c0005t0005 a0001c0005t0011 a0001c0055t0045 others(3): Show a0001c0005t0005 a0001c0005t0011 a0001c0055t0045 a0002c0002t0010 a0002c0019t0005 a0002c0026t0005	a0001c0005t0005g0055 a0001c0005t0011g0134 a0001c0005t0011g0135 others(7): Show a0001c0005t0005g0055 a0001c0005t0011g0134 a0001c0005t0011g0135 a0001c0005t0011g0136 a0001c0005t0011g0139 a0001c0055t0045g0008 a0002c0002t0010g0265 a0002c0019t0005g0002 a0002c0019t0005g0314 a0002c0026t0005g0066	11	322	0.0342	-198	c.278 others(19): Show c.2783-2242_2783-2045del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525292	TCCTCCCC others(191): Show TCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCAC CGTCGTTACCCCTCAGGCCTCCCCACGTCCCACCGTCGTTACCCCTCAGT CCTCCCCACGTCCCACCGTCGTTACCTCTCAGTCCTCCCCACGTCCCACC GTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTTGTTACCCCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02145.hp2 others(10): Show HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0010 others(4): Show a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0001c0017 a0001c0025 a0001c0034	a0001c0004t0004 a0001c0005t0005 a0001c0010t0005 others(6): Show a0001c0004t0004 a0001c0005t0005 a0001c0010t0005 a0001c0010t0028 a0001c0010t0029 a0001c0015t0007 a0001c0017t0003 a0001c0025t0025 a0001c0034t0011	a0001c0004t0004g0078 a0001c0004t0004g0282 a0001c0005t0005g0056 others(10): Show a0001c0004t0004g0078 a0001c0004t0004g0282 a0001c0005t0005g0056 a0001c0005t0005g0111 a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0028g0079 a0001c0010t0029g0081 a0001c0010t0029g0125 a0001c0015t0007g0285 a0001c0017t0003g0138 a0001c0025t0025g0047 a0001c0034t0011g0129	13	322	0.0404	-198	c.278 others(19): Show c.2783-2176_2783-1979del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NOL10_chr2_10565754_10694975	10587062	TATATACA others(191): Show TATATACATATATATACATATATATACATATATATACACATATATATACA TATATATACATATATATACATATATACACATATATATACATATATACACA TATATACACATATATATACACATATATATACACATATATATACACATATA TATATACATATATATACATATATATATACATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	372	0.0027	-198	c.184 others(19): Show c.1844+1783_1844+1980del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NPAS1_chr19_47014837_47050775	47027448	CTCTGCCC others(191): Show CTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGC CCCTGGTCTCCCATCTCTCTGCCCCTGTTCTCCCTTCTCTCTGCCCCTGG TCTCCTGTCTGTCTGCCCCTGGTCTCCCTTCTCTCTGCCCCTGGTCTCCC GTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02572.hp2 HG02615.hp1 others(2): Show HG01433.hp1 HG02572.hp2 HG02615.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0395 a0001c0002t0001g0155 a0001c0002t0001g0189 others(2): Show a0001c0001t0001g0395 a0001c0002t0001g0155 a0001c0002t0001g0189 a0001c0002t0001g0364 a0001c0003t0001g0214	5	418	0.0120	-198	c.359 others(17): Show c.359-4812_359-4615del		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
P2RX5_chr17_3668227_3701155	3685786	GCCCAGCC others(191): Show GCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGA ACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG00741.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0305 a0002c0002t0001g0028 a0001c0001t0001g0305 a0002c0002t0001g0028	2	362	0.0055	-198	c.981 others(17): Show c.981+2028_981+2225del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PEX5_chr12_7184686_7216459	7196910	ACATATAA others(191): Show ACATATAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTC ACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATA TGTCACATATAATGTAATTATATATGTCACATATAATGTAATTATATATG TCACATATAATGTAATTATATATGTCACATATAATGTAATTATATATGT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	428	0.0047	-198	c.449 others(17): Show c.449-2084_449-1887del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PITRM1_chr10_3132728_3177782	3168425	ATGGCTGG others(191): Show ATGGCTGGACACAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCC AAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGT AGTTTCCATAATCCCCACATGTTGTGGGAGGGACCTGGTGGGAGGTAATT GAATCAAGAGGGCGGTTTCCTCCATGTTATTCTCGTGACAGTGAGCACG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 NA18906.hp1 HG02922.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149	3	446	0.0067	-198	c.159 others(17): Show c.159+1481_160-1384del		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	2/26						chr10	TogoVar
PLEKHG4B_chr5_87168_194966	164939	CGGGGCGG others(191): Show CGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0036 a0036	a0036c0075 a0036c0075	a0036c0075t0061 a0036c0075t0061	a0036c0075t0061g0178 a0036c0075t0061g0178	1	210	0.0048	-198	c.347 others(19): Show c.3476+1392_3476+1589del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19						chr5	TogoVar
PLIN4_chr19_4497192_4523486	4511029	TCCTTTGG others(191): Show TCCTTTGGCCACATTCACTGCCCCCGTGACTCCAGTAGTCACTGCATCCT TAGCGCCACTCAGCACCGTCTTGGCTGTGTCCACACCTGTCTGGACGGTC CCTTTGGCCACATTTACGGCACCAGTGACTCCACTGCAGACGGTGTCCTT GGTACCGGTCAGGACAGTCTTGCTGGTGTCCACGCCGGTCTGGACAGTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0112 a0112	a0112c0058 a0112c0058	a0112c0058t0004 a0112c0058t0004	a0112c0058t0004g0061 a0112c0058t0004g0061	1	412	0.0024	-198	c.273 others(9): Show c.2733_2930del	p.Thr others(13): Show p.Thr912_Gly977del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	3049/6502	2733/4116	911/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511316	CCTGGACG others(191): Show CCTGGACGGCCCCTTTGGCCACTTTCGCAGCACCGGTCACCCCACTGCCA AGGGTGTTCTTTGTACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGT TTGCACAGCACCCTTGGCCACGTTCGCAGCACCGGTGACCCCACTGCAGA CAGTGTCCTTGGTACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18963.hp1 NA18993.hp1 NA18997.hp1 others(2): Show NA18963.hp1 NA18993.hp1 NA18997.hp1 NA19005.hp2 NA19012.hp2	a0019 a0078 a0019 a0078	a0019c0015 a0078c0088 a0019c0015 a0078c0088	a0019c0015t0002 a0078c0088t0002 a0019c0015t0002 a0078c0088t0002	a0019c0015t0002g0203 a0019c0015t0002g0204 a0019c0015t0002g0205 others(2): Show a0019c0015t0002g0203 a0019c0015t0002g0204 a0019c0015t0002g0205 a0019c0015t0002g0206 a0078c0088t0002g0181	5	412	0.0121	-198	c.244 others(9): Show c.2446_2643del	p.Met others(13): Show p.Met816_Gln881del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2762/6502	2446/4116	816/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511610	CGGTCTGG others(191): Show CGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTG GACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCC CCCTTGGATGGCCCCTTTGGCCACATTCGCAGCACCGGTCACCCCACTGC AGACGGTGTCCTTGGTACCAGTTAGGACAGTCTTGGTGGTGTCCACACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp2 HG01261.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG01261.hp2 HG02293.hp1	a0032 a0036 a0032 a0036	a0032c0035 a0036c0090 a0036c0091 a0032c0035 a0036c0090 a0036c0091	a0032c0035t0001 a0036c0090t0001 a0036c0091t0001 a0032c0035t0001 a0036c0090t0001 a0036c0091t0001	a0032c0035t0001g0042 a0036c0090t0001g0185 a0036c0091t0001g0186 a0032c0035t0001g0042 a0036c0090t0001g0185 a0036c0091t0001g0186	4	412	0.0097	-198	c.215 others(9): Show c.2152_2349del	p.Ser others(13): Show p.Ser718_Thr783del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2468/6502	2152/4116	718/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512847	GCAGACAG others(191): Show GCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGC CGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA CAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCACGCC GGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02559.hp1 HG02572.hp2 others(11): Show HG01884.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0013 a0044 a0045 others(7): Show a0013 a0044 a0045 a0046 a0047 a0053 a0088 a0089 a0090 a0091	a0013c0026 a0013c0079 a0013c0148 others(9): Show a0013c0026 a0013c0079 a0013c0148 a0044c0163 a0045c0164 a0046c0165 a0047c0162 a0053c0147 a0088c0076 a0089c0077 a0090c0075 a0091c0078	a0013c0026t0006 a0013c0079t0006 a0013c0148t0006 others(9): Show a0013c0026t0006 a0013c0079t0006 a0013c0148t0006 a0044c0163t0012 a0045c0164t0012 a0046c0165t0001 a0047c0162t0004 a0053c0147t0001 a0088c0076t0004 a0089c0077t0031 a0090c0075t0004 a0091c0078t0001	a0013c0026t0006g0013 a0013c0079t0006g0066 a0013c0148t0006g0067 others(9): Show a0013c0026t0006g0013 a0013c0079t0006g0066 a0013c0148t0006g0067 a0044c0163t0012g0069 a0045c0164t0012g0070 a0046c0165t0001g0071 a0047c0162t0004g0068 a0053c0147t0001g0305 a0088c0076t0004g0076 a0089c0077t0031g0306 a0090c0075t0004g0302 a0091c0078t0001g0285	14	412	0.0340	-198	c.915 others(8): Show c.915_1112del	p.Ser others(13): Show p.Ser306_Cys371del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1231/6502	915/4116	305/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512884	GTGGTGTC others(191): Show GTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACC AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCA GTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0055 a0055	a0055c0146 a0055c0146	a0055c0146t0003 a0055c0146t0003	a0055c0146t0003g0262 a0055c0146t0003g0262	1	412	0.0024	-198	c.878 others(8): Show c.878_1075del	p.Ser others(13): Show p.Ser293_Thr358del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1194/6502	878/4116	293/1371			chr19	TogoVar
POLG_chr15_89311320_89339824	89325034	CAGAGAGT others(191): Show CAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGA GAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGA GTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGT GAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19068.hp2 NA19006.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0108 a0001c0001t0002g0082 a0001c0001t0002g0108	2	398	0.0050	-198	c.194 others(17): Show c.1949+218_1949+415del		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
PRKAG2_chr7_151551127_151882115	151874102	ATATGATG others(191): Show ATATGATGTATATGTATATGTATATGATGTATATGTATATATGTATATGT ATATGATGTATATGTATATGATGTATATGTATATGTATATGTATATGATG TATATGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTA TATGATGTATATGTATATGTATATGATATATATGTATATGTATATGATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0132 a0001c0001t0010g0132	1	252	0.0040	-198	c.114 others(17): Show c.114+2207_114+2404del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798734	ATGGTGGT others(191): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	178	0.0056	-198	c.185 others(19): Show c.1855-5103_1855-4906del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPRT_chr20_42067756_43194906	42508940	AATATAAT others(191): Show AATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATT ATATAATTTATATTTAATTTATAGATATAAATCATATAATTTATATTTAA TTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	62	0.0161	-198	c.115 others(21): Show c.1154-36576_1154-36379del		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(191): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02280.hp2 HG02647.hp2 others(1): Show HG00423.hp2 HG02280.hp2 HG02647.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0025 a0002c0011 others(1): Show a0001c0001 a0001c0025 a0002c0011 a0003c0014	a0001c0001t0025 a0001c0025t0058 a0002c0011t0095 others(1): Show a0001c0001t0025 a0001c0025t0058 a0002c0011t0095 a0003c0014t0025	a0001c0001t0025g0070 a0001c0025t0058g0007 a0002c0011t0095g0059 others(1): Show a0001c0001t0025g0070 a0001c0025t0058g0007 a0002c0011t0095g0059 a0003c0014t0025g0074	4	218	0.0184	-198	c.120 others(19): Show c.1200+2163_1200+2360del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000682	AGGCTGGT others(191): Show AGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01515.hp1 HG02258.hp2 HG01081.hp2 HG01515.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0050 a0001c0001t0053 a0001c0004t0027 a0001c0001t0050 a0001c0001t0053 a0001c0004t0027	a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0004t0027g0092 a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0004t0027g0092	3	218	0.0138	-198	c.120 others(19): Show c.1200+2311_1200+2508del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000701	TATCAGCC others(191): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01496.hp1 HG01978.hp2 others(6): Show HG00733.hp2 HG01496.hp1 HG01978.hp2 HG01981.hp2 HG02572.hp2 HG04115.hp2 NA18612.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 others(5): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0002t0012 a0001c0007t0012 a0001c0007t0043 a0002c0003t0001 a0002c0003t0052	a0001c0001t0004g0210 a0001c0001t0010g0136 a0001c0001t0010g0140 others(6): Show a0001c0001t0004g0210 a0001c0001t0010g0136 a0001c0001t0010g0140 a0001c0002t0004g0169 a0001c0002t0012g0100 a0001c0007t0012g0177 a0001c0007t0043g0126 a0002c0003t0001g0192 a0002c0003t0052g0213	9	218	0.0413	-198	c.120 others(19): Show c.1200+2405_1200+2602del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000935	ACAGAAGA others(191): Show ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTC GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA CAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGG TGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0019 a0002c0020t0019	a0002c0020t0019g0153 a0002c0020t0019g0153	1	218	0.0046	-198	c.120 others(19): Show c.1200+2608_1200+2805del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000984	CGTGGAGG others(191): Show CGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGG ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTG GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03669.hp2 HG02280.hp2 HG03669.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0014 a0001c0005 a0003c0014	a0001c0005t0011 a0003c0014t0025 a0001c0005t0011 a0003c0014t0025	a0001c0005t0011g0022 a0003c0014t0025g0074 a0001c0005t0011g0022 a0003c0014t0025g0074	2	218	0.0092	-198	c.120 others(19): Show c.1200+2757_1200+2954del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001262	TCCAGGCT others(191): Show TCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCA CCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTT CCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0003 a0001c0010t0017g0003	1	218	0.0046	-198	c.120 others(19): Show c.1200+2905_1200+3102del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001294	GTATCAGC others(191): Show GTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAG GGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAG AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0188 a0001c0001t0026g0188	1	218	0.0046	-198	c.120 others(19): Show c.1200+2919_1200+3116del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24						chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)