Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF1A_chr2_240708767_240825219	240786741	TGGGCCCC others(27): Show TGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0224 a0002c0002t0005g0224	1	330	0.0030	-34	c.430 others(49): Show c.430-262_430-229delTGATGGTGGCCCCTACCCTCTCACTCAGGG GCCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168001579	GCGTGGCC others(27): Show GCGTGGCCTCGGGCAGGTGAGAAGACACCTGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp2 others(60): Show HG00099.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18954.hp2 NA18975.hp1 NA18978.hp2 NA18988.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0007 a0008 a0009 a0012 a0014	a0001c0001 a0001c0006 a0001c0022 others(8): Show a0001c0001 a0001c0006 a0001c0022 a0003c0004 a0005c0007 a0005c0024 a0007c0009 a0008c0011 a0009c0012 a0012c0014 a0014c0017	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0032 a0001c0001t0042 a0001c0006t0002 a0001c0022t0010 a0003c0004t0010 a0005c0007t0010 a0005c0024t0002 a0007c0009t0017 a0007c0009t0043 a0008c0011t0005 a0009c0012t0010 a0012c0014t0010 a0014c0017t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 others(58): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0010g0256 a0001c0001t0017g0015 a0001c0001t0017g0304 a0001c0001t0032g0294 a0001c0001t0042g0260 a0001c0006t0002g0262 a0001c0022t0010g0257 a0003c0004t0010g0018 a0005c0007t0010g0019 a0005c0024t0002g0261 a0007c0009t0017g0366 a0007c0009t0043g0259 a0008c0011t0005g0363 a0009c0012t0010g0258 a0012c0014t0010g0255 a0014c0017t0002g0315	63	375	0.1680	-34	c.-36 others(51): Show c.-369-934_-369-901delGAGGCCGTGGCCTCGGGCAGGTGAGAAG ACACCT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245270184	ATTCCTTC others(27): Show ATTCCTTCTTCTTTTCCCTTCCCTTTCTTCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0022 a0001c0001t0041g0022	1	160	0.0063	-34	c.466 others(53): Show c.466-96639_466-96606delTTTTCCCTTCCCTTTCTTCTTCCCTT CCTTCTTC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374086	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0050 a0001c0004t0007g0050	1	160	0.0063	-34	c.999 others(51): Show c.999+6721_999+6754delAAAAAAAATATATATATATATATATATA TATATA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245614857	TTCGGATA others(27): Show TTCGGATAGGGATGAGGAGATGCAGACCTTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG01175.hp1 others(7): Show HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01496.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03704.hp2 HG06807.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0020	a0001c0002 a0001c0005 a0001c0042 others(5): Show a0001c0002 a0001c0005 a0001c0042 a0001c0047 a0001c0061 a0003c0060 a0010c0021 a0020c0033	a0001c0002t0005 a0001c0002t0050 a0001c0005t0010 others(6): Show a0001c0002t0005 a0001c0002t0050 a0001c0005t0010 a0001c0042t0030 a0001c0047t0009 a0001c0061t0028 a0003c0060t0007 a0010c0021t0017 a0020c0033t0031	a0001c0002t0005g0017 a0001c0002t0050g0102 a0001c0005t0010g0028 others(7): Show a0001c0002t0005g0017 a0001c0002t0050g0102 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0042t0030g0081 a0001c0047t0009g0127 a0001c0061t0028g0145 a0003c0060t0007g0037 a0010c0021t0017g0113 a0020c0033t0031g0002	10	160	0.0625	-34	c.209 others(53): Show c.2098+3021_2098+3054delGATAGGGATGAGGAGATGCAGACCTT TAAAATCG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF6_chr6_39324990_39730408	39337203	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0041 a0007c0016t0041	a0007c0016t0041g0043 a0007c0016t0041g0043	1	174	0.0058	-34	c.242 others(51): Show c.2429-689_2429-656delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	22/22			chr6	TogoVar
KIRREL2_chr19_35851911_35872136	35854606	AGTCATTG others(27): Show AGTCATTGTGCCCAGCTGATTTATCTTTCTATCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0001 a0015c0022t0001g0001	1	340	0.0029	-34	c.-25 others(45): Show c.-2513_-2480delGTCATTGTGCCCAGCTGATTTATCTTTCTATCTT	KIRREL2	ENSG00000126259.20	transcript	ENST00000360202.10	protein_coding		2304		chr19	TogoVar
KLF17_chr1_44113821_44140140	44117436	ATTTATTT others(27): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0205 a0003c0003t0003g0205	1	444	0.0023	-34	c.-14 others(45): Show c.-1471_-1438delTTTATTTTATTTTATTTTATTTTATTTTATTTAT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding		1384		chr1	TogoVar
KLF9_chr9_70379604_70419657	70408988	ATATATAT others(27): Show ATATATATATGTGTATATATATATACACATATATG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18963.hp1 NA18951.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0155 a0001c0001t0001g0120 a0001c0001t0001g0155	2	400	0.0050	-34	c.505 others(51): Show c.505+3837_505+3870delCATATATGTGTATATATATATACACATA TATATA	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLHDC1_chr14_49688120_49758150	49713798	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02615.hp1 others(7): Show HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG02976.hp1 HG03139.hp1 HG03516.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0072 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0207 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0005g0175 a0001c0002t0007g0181	10	208	0.0481	-34	c.404 others(51): Show c.404+3437_404+3470delATATATATATATATATATATATATATAT ATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49713818	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0184 a0001c0002t0001g0187	2	208	0.0096	-34	c.404 others(51): Show c.404+3439_404+3472delATATATATATATATATATATATATATAT ATATTT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHL15_chrX_23978720_24032186	23979570	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	286	0.0035	-34	c.83 others(45): Show c.8317_*8350delATATATATATATATATTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4149		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979580	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	286	0.0035	-34	c.83 others(45): Show c.8307_*8340delATATATATATATATATATATATATATTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4139		chrX	TogoVar
KLHL1_chr13_69695597_70113452	69780699	TATGTATA others(27): Show TATGTATATATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(4): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 NA18954.hp1 NA18970.hp1 NA19056.hp1 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0004c0008t0001	a0001c0001t0002g0062 a0001c0001t0003g0169 a0001c0001t0005g0014 others(4): Show a0001c0001t0002g0062 a0001c0001t0003g0169 a0001c0001t0005g0014 a0001c0001t0005g0022 a0001c0001t0011g0133 a0001c0001t0011g0134 a0004c0008t0001g0100	7	182	0.0385	-34	c.163 others(55): Show c.1639+16005_1639+16038delGTATATATATATATATACATATAT ATATATACAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	7/10			chr13	TogoVar
KLHL29_chr2_23380179_23713606	23537417	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	160	0.0063	-34	c.-45 others(53): Show c.-45-24719_-45-24686delCACACACACACACACACACACACACA CACACACA	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL29_chr2_23380179_23713606	23670917	GCTCTCTC others(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	160	0.0063	-34	c.941 others(53): Show c.941-13452_941-13419delTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL2_chr4_165202561_165328147	165264704	GTATATAT others(27): Show GTATATATATATATATACATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02615.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0216 a0001c0001t0001g0018 a0001c0001t0001g0216	2	254	0.0079	-34	c.544 others(51): Show c.544+1347_544+1380delATATATATATATATACATATATATATAT ATATAT	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL2_chr4_165202561_165328147	165264706	ATATATAT others(27): Show ATATATATATATATACATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	254	0.0039	-34	c.544 others(51): Show c.544+1362_544+1395delCATATATATATATATATATGTATATATA TATATA	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL4_chrX_87512802_87675050	87557704	CTTTTAAA others(27): Show CTTTTAAAATGTGATAGATACGGTTTTAAAAGTTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(105): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01167.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 others(101): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0041 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0003g0034 a0001c0001t0003g0084 a0001c0001t0004g0047 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0246 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0121 a0001c0002t0002g0180 a0001c0002t0003g0075 a0001c0002t0003g0093 a0001c0002t0004g0165 a0001c0002t0005g0032 a0001c0002t0007g0013 a0001c0002t0007g0046 a0001c0002t0007g0090 a0001c0002t0008g0001 a0001c0002t0008g0038 a0001c0002t0009g0048 a0001c0002t0009g0092 a0001c0002t0013g0045 a0001c0002t0014g0079 a0001c0002t0015g0016 a0001c0002t0016g0083 a0001c0002t0018g0057 a0001c0002t0021g0094 a0001c0002t0022g0106 a0001c0002t0024g0114 a0001c0003t0001g0036 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0002g0052	108	259	0.4170	-34	c.422 others(53): Show c.422+39428_422+39461delAAAATGTGATAGATACGGTTTTAAAA GTTATTTT	KLHL4	ENSG00000102271.14	transcript	ENST00000373119.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLK5_chr19_50938303_50958038	50945049	TTCCTTTC others(27): Show TTCCTTTCTTTCTCCTTCCTTCCTTCCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp2 HG03942.hp2 HG02602.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0092 a0001c0001t0002g0196 a0001c0001t0003g0293 a0001c0001t0001g0092 a0001c0001t0002g0196 a0001c0001t0003g0293	3	380	0.0079	-34	c.727 others(51): Show c.727-1297_727-1264delGAGAGAAAGGAAGGAAGGAAGGAGAAAG AAAGGA	KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding	5/5			chr19	TogoVar
KMT2C_chr7_152129925_152441003	152297047	AAGAAAGA others(27): Show AAGAAAGACAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG03195.hp2 others(2): Show HG02886.hp2 HG03098.hp1 HG03195.hp2 NA19068.hp2 NA19083.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0002c0011 a0002c0024 others(1): Show a0002c0002 a0002c0011 a0002c0024 a0013c0023	a0002c0002t0002 a0002c0002t0007 a0002c0011t0002 others(2): Show a0002c0002t0002 a0002c0002t0007 a0002c0011t0002 a0002c0024t0002 a0013c0023t0011	a0002c0002t0002g0075 a0002c0002t0007g0012 a0002c0011t0002g0077 others(2): Show a0002c0002t0002g0075 a0002c0002t0007g0012 a0002c0011t0002g0077 a0002c0024t0002g0056 a0013c0023t0011g0057	5	172	0.0291	-34	c.849 others(53): Show c.849+12885_849+12918delCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT5C_chr19_55334876_55353121	55338523	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG02280.hp1 others(1): Show HG00323.hp2 HG00741.hp2 HG02280.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0106	4	406	0.0099	-34	c.-15 others(45): Show c.-1577_-1544delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACA	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding		1352		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133157048	GTCTGCTC others(27): Show GTCTGCTCCCAGCCGCATTGGTTCCCCCGTGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0288 a0002c0006t0004g0288	1	332	0.0030	-34	c.-34 others(45): Show c.-3419_-3386delTCTGCTCCCAGCCGCATTGGTTCCCCCGTGGGGT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		3170		chr10	TogoVar
KNG1_chr3_186712359_186749410	186730667	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18940.hp1 NA18942.hp2 others(5): Show NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18950.hp2 NA18988.hp1 NA18989.hp1 NA19079.hp1 NA19080.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 others(2): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0005	a0004c0003t0001g0013 a0004c0003t0001g0121 a0004c0003t0002g0034 others(4): Show a0004c0003t0001g0013 a0004c0003t0001g0121 a0004c0003t0002g0034 a0004c0003t0002g0105 a0004c0003t0003g0034 a0004c0003t0004g0108 a0004c0003t0005g0013	8	430	0.0186	-34	c.673 others(49): Show c.673-876_673-843delAAAAAAAAAAAAAAAATATATATATATATA TATA	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186730669	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18965.hp2 NA19043.hp2 HG03491.hp2 NA18965.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0005 a0001c0004 a0002c0006 a0003c0005	a0001c0004t0003 a0002c0006t0002 a0003c0005t0043 a0001c0004t0003 a0002c0006t0002 a0003c0005t0043	a0001c0004t0003g0115 a0002c0006t0002g0060 a0003c0005t0043g0184 a0001c0004t0003g0115 a0002c0006t0002g0060 a0003c0005t0043g0184	3	430	0.0070	-34	c.673 others(49): Show c.673-874_673-841delAAAAAAAAAAAAAATATATATATATATATA TATA	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNL1_chr15_40589249_40669342	40658523	ATCTCAAA others(27): Show ATCTCAAAAAAAAAAAAAAAAAAAGAGAGAATCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02523.hp1 HG00423.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0345 a0001c0001t0001g0289 a0001c0001t0001g0345	2	370	0.0054	-34	c.671 others(51): Show c.6714-793_6714-760delAGAGAGAATCTGTCTCAAAAAAAAAAAA AAAAAA	KNL1	ENSG00000137812.21	transcript	ENST00000399668.7	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr15	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp2 HG01074.hp2 others(78): Show HG00438.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG03098.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp2 NA18989.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0014 others(1): Show a0001 a0005 a0014 a0019	a0001c0001 a0001c0021 a0001c0023 others(4): Show a0001c0001 a0001c0021 a0001c0023 a0001c0038 a0005c0007 a0014c0027 a0019c0032	a0001c0001t0001 a0001c0021t0001 a0001c0023t0001 others(4): Show a0001c0001t0001 a0001c0021t0001 a0001c0023t0001 a0001c0038t0001 a0005c0007t0001 a0014c0027t0001 a0019c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0128 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0021t0001g0133 a0001c0023t0001g0184 a0001c0038t0001g0173 a0005c0007t0001g0136 a0005c0007t0001g0167 a0005c0007t0001g0187 a0005c0007t0001g0195 a0014c0027t0001g0162 a0019c0032t0001g0127	81	320	0.2531	-34	c.284 others(51): Show c.2842-856_2842-823delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA6_chr1_32103056_32181563	32181337	GACAATAA others(27): Show GACAATAACCAGGGGGGCCCCGGCGAGGATGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	244	0.0041	-34	c.10 others(47): Show c.10444_*10477delACAATAACCAGGGGGGCCCCGGCGAGGATGGG GC	KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding		4775		chr1	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02717.hp2 others(9): Show HG02280.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp2 NA19030.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0007t0001 a0003c0003t0001 a0003c0007t0001	a0003c0003t0001g0015 a0003c0003t0001g0151 a0003c0003t0001g0152 others(2): Show a0003c0003t0001g0015 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0007t0001g0032	12	424	0.0283	-34	c.698 others(48): Show c.698+94_698+127delTATATATATATATATATATATATATATATAT ATA	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7			chr17	TogoVar
KRT24_chr17_40692991_40708752	40701747	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG01943.hp2 others(10): Show HG00099.hp2 HG00609.hp1 HG01943.hp2 HG02080.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG04228.hp1 NA18955.hp2 NA18964.hp2 NA18972.hp1 NA18988.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0019 a0002c0002t0001g0135 a0002c0002t0001g0010 a0002c0002t0001g0019 a0002c0002t0001g0135	13	424	0.0307	-34	c.698 others(48): Show c.698+70_698+103delAATATATATATATATATATATATATATATAT ATA	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7			chr17	TogoVar
KRTAP10-12_chr21_44692172_44703044	44701718	GGTAAAGC others(27): Show GGTAAAGCTCACTCACCTGCCACTCCCCTCCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(95): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19055.hp2 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0002c0003 a0003c0002 a0005c0008	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0002c0003t0001 a0003c0002t0001 a0005c0008t0001	a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 others(4): Show a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 a0001c0009t0001g0000 a0002c0003t0001g0000 a0003c0002t0001g0000 a0005c0008t0001g0000	98	446	0.2197	-34	c.37 others(45): Show c.3780_*3813delGTAAAGCTCACTCACCTGCCACTCCCCTCCGGCT	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		3675		chr21	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161766	GTATGTGT others(27): Show GTATGTGTGCGTGTGTGTGTGTATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02922.hp2 others(1): Show HG02109.hp2 HG02451.hp1 HG02922.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	4	420	0.0095	-34	c.-11 others(45): Show c.-1109_-1076delTATATATATATATACACACACACACGCACACATA	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		1019		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161770	GTGTGCGT others(27): Show GTGTGCGTGTGTGTGTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-34	c.-11 others(45): Show c.-1113_-1080delTATATATATATATATATACACACACACACGCACA	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		1023		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161772	GTGCGTGT others(27): Show GTGCGTGTGTGTGTGTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-34	c.-11 others(45): Show c.-1115_-1082delTATATATATATATATATATACACACACACACGCA	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		1025		chr17	TogoVar
KSR2_chr12_117448012_117973990	117692449	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp2 HG03139.hp1 others(1): Show HG01243.hp1 HG02895.hp2 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0120 a0001c0001t0135 a0001c0001t0144 others(1): Show a0001c0001t0120 a0001c0001t0135 a0001c0001t0144 a0001c0002t0031	a0001c0001t0120g0118 a0001c0001t0135g0135 a0001c0001t0144g0189 others(1): Show a0001c0001t0120g0118 a0001c0001t0135g0135 a0001c0001t0144g0189 a0001c0002t0031g0005	4	196	0.0204	-34	c.987 others(53): Show c.987-24825_987-24792delATATATATATATATATATATATATAT ATATATAT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117794421	ACAACATG others(27): Show ACAACATGCACACTCACACCAACATGCACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG02040.hp2 others(8): Show HG00741.hp1 HG00741.hp2 HG02040.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp1 HG03486.hp2 NA19074.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0019	a0001c0001t0019 a0001c0001t0071 a0001c0001t0084 others(8): Show a0001c0001t0019 a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 a0001c0001t0102 a0001c0001t0133 a0001c0002t0001 a0001c0002t0041 a0001c0003t0021 a0001c0015t0018 a0001c0019t0116	a0001c0001t0019g0117 a0001c0001t0071g0053 a0001c0001t0084g0067 others(8): Show a0001c0001t0019g0117 a0001c0001t0071g0053 a0001c0001t0084g0067 a0001c0001t0085g0061 a0001c0001t0102g0116 a0001c0001t0133g0154 a0001c0002t0001g0166 a0001c0002t0041g0027 a0001c0003t0021g0115 a0001c0015t0018g0142 a0001c0019t0116g0106	11	196	0.0561	-34	c.473 others(53): Show c.473-32931_473-32898delGTGTGTGTGCATGTTGGTGTGAGTGT GCATGTTG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117947187	AAAAGAAA others(27): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0151 a0001c0001t0095g0151	1	196	0.0051	-34	c.180 others(53): Show c.180+20855_180+20888delCTTTCTTTCTTTCTTTTCTTTCTTTT CTTTCTTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55646427	CTTCCTTT others(27): Show CTTCCTTTCCTTTCCTTTTCCTTTTCCTTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0085 a0011c0015t0001g0085	1	314	0.0032	-34	c.217 others(51): Show c.2173-528_2173-495delTCCTTTTCCTTTTCCTTTTCCTTTCCTT TCCTTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55646466	TTTCCTTT others(27): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 NA18522.hp2 HG01884.hp1 HG02257.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0191 a0002c0003t0003g0192 a0002c0003t0003g0194 a0002c0003t0003g0191 a0002c0003t0003g0192 a0002c0003t0003g0194	3	314	0.0096	-34	c.217 others(51): Show c.2173-504_2173-471delCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYNU_chr2_142872664_143060833	143042583	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(144): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0183 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0001t0195 a0001c0001t0196 a0001c0001t0197 a0001c0003t0015 a0001c0003t0178 a0005c0007t0168	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0117 a0001c0001t0001g0177 a0001c0001t0001g0247 a0001c0001t0001g0326 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0200 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0002g0294 a0001c0001t0002g0305 a0001c0001t0004g0023 a0001c0001t0004g0032 a0001c0001t0004g0052 a0001c0001t0004g0104 a0001c0001t0004g0124 a0001c0001t0004g0179 a0001c0001t0004g0193 a0001c0001t0004g0219 a0001c0001t0004g0232 a0001c0001t0004g0251 a0001c0001t0004g0259 a0001c0001t0004g0274 a0001c0001t0004g0283 a0001c0001t0005g0042 a0001c0001t0005g0060 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0123 a0001c0001t0005g0153 a0001c0001t0005g0273 a0001c0001t0005g0284 a0001c0001t0009g0054 a0001c0001t0009g0155 a0001c0001t0009g0163 a0001c0001t0009g0166 a0001c0001t0009g0170 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0013g0040 a0001c0001t0013g0062 a0001c0001t0014g0043 a0001c0001t0014g0238 a0001c0001t0014g0239 a0001c0001t0014g0250 a0001c0001t0015g0007 a0001c0001t0015g0024 a0001c0001t0015g0055 a0001c0001t0024g0070 a0001c0001t0024g0226 a0001c0001t0024g0244 a0001c0001t0025g0196 a0001c0001t0025g0197 a0001c0001t0025g0255 a0001c0001t0026g0058 a0001c0001t0026g0225 a0001c0001t0026g0242 a0001c0001t0037g0093 a0001c0001t0037g0265 a0001c0001t0038g0046 a0001c0001t0038g0270 a0001c0001t0039g0126 a0001c0001t0039g0201 a0001c0001t0040g0229 a0001c0001t0040g0248 a0001c0001t0041g0120 a0001c0001t0041g0287 a0001c0001t0042g0240 a0001c0001t0042g0271 a0001c0001t0043g0234 a0001c0001t0136g0230 a0001c0001t0137g0041 a0001c0001t0138g0311 a0001c0001t0139g0022 a0001c0001t0140g0221 a0001c0001t0141g0222 a0001c0001t0142g0092 a0001c0001t0143g0263 a0001c0001t0144g0105 a0001c0001t0145g0151 a0001c0001t0146g0243 a0001c0001t0147g0223 a0001c0001t0148g0071 a0001c0001t0149g0033 a0001c0001t0150g0114 a0001c0001t0151g0018 a0001c0001t0152g0235 a0001c0001t0153g0190 a0001c0001t0154g0118 a0001c0001t0155g0111 a0001c0001t0156g0322 a0001c0001t0157g0233 a0001c0001t0158g0021 a0001c0001t0159g0031 a0001c0001t0160g0205 a0001c0001t0161g0034 a0001c0001t0162g0149 a0001c0001t0163g0256 a0001c0001t0164g0199 a0001c0001t0165g0003 a0001c0001t0166g0211 a0001c0001t0167g0227 a0001c0001t0169g0269 a0001c0001t0170g0192 a0001c0001t0171g0090 a0001c0001t0172g0188 a0001c0001t0173g0189 a0001c0001t0174g0150 a0001c0001t0175g0115 a0001c0001t0176g0277 a0001c0001t0177g0220 a0001c0001t0179g0147 a0001c0001t0180g0129 a0001c0001t0181g0116 a0001c0001t0182g0101 a0001c0001t0183g0286 a0001c0001t0184g0268 a0001c0001t0185g0029 a0001c0001t0186g0162 a0001c0001t0187g0191 a0001c0001t0188g0194 a0001c0001t0189g0228 a0001c0001t0195g0096 a0001c0001t0196g0301 a0001c0001t0197g0252 a0001c0003t0015g0099 a0001c0003t0178g0100 a0005c0007t0168g0085	147	332	0.4428	-34	c.42 others(43): Show c.426_*459delATATATATATATATATATATATATATATATATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	14/14	426	INFO_REALIGN_3_PRIME	chr2	TogoVar
L1TD1_chr1_62189849_62217328	62197731	CTGGGTGC others(27): Show CTGGGTGCAGTGGTGCACGCTTGTAGTCCCAGCTA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	414	0.0024	-34	c.-11 others(53): Show c.-111+1204_-111+1237delTGGGTGCAGTGGTGCACGCTTGTAGT CCCAGCTA	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3			chr1	TogoVar
L2HGDH_chr14_50237434_50317229	50316909	GTTTTTTC others(27): Show GTTTTTTCTAGTTCTCTGAAGAATGATGGTATTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0236 a0002c0002t0011g0236	1	360	0.0028	-34	c.-47 others(45): Show c.-4793_-4760delAAAATACCATCATTCTTCAGAGAACTAGAAAAAA	L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding		4681		chr14	TogoVar
LAMA2_chr6_128878138_129521566	129298807	ATGATAAG others(27): Show ATGATAAGTTATTCTAATTGATAAGTTATTCTAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0021 a0003c0002t0002g0021	1	88	0.0114	-34	c.303 others(51): Show c.3037+959_3037+992delTTGATAAGTTATTCTAATTGATAAGTTA TTCTAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321371	GTCAGTGG others(27): Show GTCAGTGGAGGGGTGGGGTCAGAGGACGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0125 a0001c0010t0001g0125	1	186	0.0054	-34	c.649 others(51): Show c.6497-515_6497-482delACCCACCCGTCCTCTGACCCCACCCCTC CACTGA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321397	CGGGTGGG others(27): Show CGGGTGGGTTCAGAGGACGGGTAGGGTCAGTGGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00544.hp2 others(36): Show HG00140.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01123.hp1 HG01243.hp2 HG01257.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02135.hp2 HG02273.hp2 HG02572.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04228.hp1 NA18947.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0006 others(14): Show a0000 a0001 a0006 a0014 a0015 a0016 a0017 a0033 a0034 a0035 a0041 a0042 a0045 a0067 a0077 a0081 a0084	a0000c0094 a0000c0109 a0001c0001 others(21): Show a0000c0094 a0000c0109 a0001c0001 a0001c0005 a0001c0007 a0001c0082 a0001c0100 a0006c0011 a0014c0019 a0015c0020 a0016c0047 a0016c0093 a0017c0083 a0017c0085 a0033c0107 a0034c0106 a0035c0084 a0041c0102 a0042c0099 a0045c0101 a0067c0076 a0077c0112 a0081c0058 a0084c0067	a0000c0094t0001 a0000c0109t0001 a0001c0001t0001 others(21): Show a0000c0094t0001 a0000c0109t0001 a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0082t0002 a0001c0100t0001 a0006c0011t0001 a0014c0019t0001 a0015c0020t0001 a0016c0047t0001 a0016c0093t0001 a0017c0083t0001 a0017c0085t0001 a0033c0107t0001 a0034c0106t0001 a0035c0084t0001 a0041c0102t0001 a0042c0099t0001 a0045c0101t0001 a0067c0076t0001 a0077c0112t0001 a0081c0058t0001 a0084c0067t0001	a0000c0094t0001g0098 a0000c0109t0001g0113 a0001c0001t0001g0014 others(36): Show a0000c0094t0001g0098 a0000c0109t0001g0113 a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0005t0001g0161 a0001c0007t0001g0085 a0001c0007t0001g0145 a0001c0007t0001g0149 a0001c0082t0002g0012 a0001c0100t0001g0092 a0006c0011t0001g0093 a0006c0011t0001g0095 a0006c0011t0001g0147 a0014c0019t0001g0150 a0014c0019t0001g0152 a0015c0020t0001g0151 a0015c0020t0001g0153 a0016c0047t0001g0086 a0016c0093t0001g0123 a0017c0083t0001g0129 a0017c0085t0001g0104 a0033c0107t0001g0111 a0034c0106t0001g0154 a0035c0084t0001g0169 a0041c0102t0001g0103 a0042c0099t0001g0094 a0045c0101t0001g0144 a0067c0076t0001g0160 a0077c0112t0001g0106 a0081c0058t0001g0036 a0084c0067t0001g0010	39	186	0.2097	-34	c.649 others(51): Show c.6497-541_6497-508delCTCCACTGACCCTACCCGTCCTCTGAAC CCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321428	GGAGGGGT others(27): Show GGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0068 a0068	a0068c0072 a0068c0072	a0068c0072t0001 a0068c0072t0001	a0068c0072t0001g0159 a0068c0072t0001g0159	1	186	0.0054	-34	c.649 others(51): Show c.6496+557_6497-539delTGCTGGCCCTACCCCTCTGCTGGCCCTA CCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321445	AGAGGGGT others(27): Show AGAGGGGTAGGGCCAGCAGAGGGGTGGGGTCAGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG02886.hp2 others(2): Show HG01123.hp2 HG02280.hp2 HG02886.hp2 NA19240.hp1 NA21309.hp2	a0003 a0026 a0003 a0026	a0003c0002 a0026c0060 a0003c0002 a0026c0060	a0003c0002t0001 a0026c0060t0001 a0003c0002t0001 a0026c0060t0001	a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0039 others(2): Show a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0040 a0026c0060t0001g0051	5	186	0.0269	-34	c.649 others(51): Show c.6496+540_6497-556delCACTGACCCCACCCCTCTGCTGGCCCTA CCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp2 others(38): Show HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02523.hp2 HG03239.hp1 HG03688.hp1 HG03831.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18983.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19076.hp2 NA19083.hp1 NA19084.hp2	a0001 a0004 a0028 a0001 a0004 a0028	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0004c0071 a0028c0064	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0006t0003 a0004c0071t0001 a0028c0064t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(38): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0230 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0003g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0080 a0001c0002t0001g0170 a0001c0002t0003g0023 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0073 a0001c0006t0003g0121 a0004c0071t0001g0239 a0028c0064t0002g0283	41	292	0.1404	-34	c.447 others(51): Show c.4471+173_4471+206delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33			chr7	TogoVar
LARGE1_chr22_33267509_33925476	33324268	ACAAAAAC others(27): Show ACAAAAACAAAAAGCCAAAAACAAACAACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG02257.hp2 others(8): Show HG01346.hp1 HG01891.hp1 HG02257.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG03471.hp1 HG03579.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0010 a0003c0020 a0001c0001 a0002c0010 a0003c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030 a0001c0001t0033 a0002c0010t0008 a0003c0020t0010	a0001c0001t0001g0009 a0001c0001t0006g0007 a0001c0001t0006g0011 others(8): Show a0001c0001t0001g0009 a0001c0001t0006g0007 a0001c0001t0006g0011 a0001c0001t0006g0052 a0001c0001t0006g0065 a0001c0001t0006g0081 a0001c0001t0007g0070 a0001c0001t0030g0106 a0001c0001t0033g0110 a0002c0010t0008g0054 a0003c0020t0010g0008	11	110	0.1000	-34	c.128 others(53): Show c.1288-8054_1288-8021delGGGGGGGTTGTTTGTTTTTGGCTTTT TGTTTTTG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	10/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33766913	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02615.hp1 others(4): Show HG01255.hp1 HG01891.hp2 HG02615.hp1 HG02922.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 others(1): Show a0001c0001 a0001c0003 a0001c0016 a0001c0017	a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0025 a0001c0003t0009 a0001c0016t0020 a0001c0017t0009	a0001c0001t0004g0010 a0001c0001t0005g0023 a0001c0001t0018g0067 others(4): Show a0001c0001t0004g0010 a0001c0001t0005g0023 a0001c0001t0018g0067 a0001c0001t0025g0087 a0001c0003t0009g0015 a0001c0016t0020g0002 a0001c0017t0009g0083	7	110	0.0636	-34	c.-82 others(51): Show c.-82-5389_-82-5356delATATATATATATATATATATATATATAT ATATAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar

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