Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ITPKB_chr1_226626690_226744282	226737174	ACTGCCGC others(2): Show ACTGCCGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(107): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0008 a0018 others(1): Show a0001 a0008 a0018 a0019	a0001c0001 a0001c0025 a0001c0026 others(3): Show a0001c0001 a0001c0025 a0001c0026 a0008c0008 a0018c0028 a0019c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0025t0001 a0001c0026t0038 a0008c0008t0004 a0008c0008t0041 a0008c0008t0043 a0018c0028t0004 a0019c0027t0003	a0001c0001t0001g0038 a0001c0001t0001g0240 a0001c0001t0001g0244 others(105): Show a0001c0001t0001g0038 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0275 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0239 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0003g0003 a0001c0001t0003g0045 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0256 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0305 a0001c0001t0003g0308 a0001c0001t0003g0326 a0001c0001t0004g0040 a0001c0001t0004g0233 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0296 a0001c0001t0004g0304 a0001c0001t0005g0041 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0005g0274 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0291 a0001c0001t0006g0294 a0001c0001t0006g0324 a0001c0001t0009g0271 a0001c0001t0011g0042 a0001c0001t0011g0234 a0001c0001t0011g0255 a0001c0001t0011g0292 a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0001t0014g0009 a0001c0001t0014g0276 a0001c0001t0015g0250 a0001c0001t0015g0254 a0001c0001t0015g0261 a0001c0001t0015g0268 a0001c0001t0019g0010 a0001c0001t0019g0232 a0001c0001t0024g0290 a0001c0001t0025g0282 a0001c0001t0030g0005 a0001c0001t0039g0264 a0001c0001t0040g0311 a0001c0001t0042g0238 a0001c0001t0045g0312 a0001c0001t0046g0258 a0001c0001t0049g0008 a0001c0001t0052g0252 a0001c0001t0053g0309 a0001c0001t0054g0273 a0001c0025t0001g0229 a0001c0026t0038g0247 a0008c0008t0004g0316 a0008c0008t0004g0319 a0008c0008t0041g0318 a0008c0008t0043g0317 a0018c0028t0004g0320 a0019c0027t0003g0315	110	350	0.3143	-9	c.276 others(16): Show c.276_284delCAGCGGCAG	p.Ser others(11): Show p.Ser93_Ser95del	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/8	731/6269	276/2841	92/946		chr1	TogoVar
IVL_chr1_152903546_152916886	152910295	AGAGCAGC others(23): Show AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01257.hp1 HG00140.hp1 HG01257.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0001 a0021c0023t0001g0001	2	426	0.0047	-30	c.513 others(37): Show c.513_542delACAGCTGAAGCACCCGGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln172_Gly181del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	576/2152	513/1758	171/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910506	CAGCAGCA others(23): Show CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00408.hp2	a0038 a0038	a0038c0028 a0038c0028	a0038c0028t0001 a0038c0028t0001	a0038c0028t0001g0001 a0038c0028t0001g0001	1	426	0.0024	-30	c.753 others(37): Show c.753_782delGCAGCTGGAGCTCTCTGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln252_Gly261del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	816/2152	753/1758	251/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910837	AGCAGCAG others(5): Show AGCAGCAGGAGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0040 a0040	a0040c0033 a0040c0033	a0040c0033t0001 a0040c0033t0001	a0040c0033t0001g0001 a0040c0033t0001g0001	1	426	0.0024	-12	c.104 others(21): Show c.1046_1057delAGGAGGGGCAGC	p.Gln others(13): Show p.Gln349_Gln352del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	1109/2152	1046/1758	349/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
JMJD1C_chr10_63162225_63470977	63208190	ACTAAAC ACTAAAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00544.hp2 HG00609.hp1 others(39): Show HG00099.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01175.hp2 HG01256.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp2 HG02273.hp1 HG03831.hp2 NA18946.hp1 NA18947.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18985.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1	a0003 a0008 a0011 others(1): Show a0003 a0008 a0011 a0014	a0003c0003 a0008c0009 a0011c0014 others(1): Show a0003c0003 a0008c0009 a0011c0014 a0014c0035	a0003c0003t0001 a0008c0009t0001 a0011c0014t0001 others(1): Show a0003c0003t0001 a0008c0009t0001 a0011c0014t0001 a0014c0035t0001	a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 others(39): Show a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0207 a0008c0009t0001g0187 a0008c0009t0001g0189 a0008c0009t0001g0190 a0008c0009t0001g0193 a0008c0009t0001g0194 a0011c0014t0001g0177 a0011c0014t0001g0205 a0014c0035t0001g0206	42	310	0.1355	-6	c.347 others(15): Show c.3473_3478delGTTTAG	p.Gly others(15): Show p.Gly1158_Leu1159del	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	10/26	3793/8758	3473/7623	1158/2540		chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63214835	TTCA TTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG02257.hp1 HG02895.hp1 others(5): Show HG01081.hp2 HG02257.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 others(5): Show a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 a0007c0006t0001g0111 a0007c0006t0001g0112 a0007c0006t0001g0113 a0007c0006t0001g0114 a0007c0006t0001g0115	8	310	0.0258	-3	c.132 others(12): Show c.1329_1331delTGA	p.His others(19): Show p.His443_Glu444delinsGln	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	8/26	1646/8758	1329/7623	443/2540		chr10	TogoVar
JSRP1_chr19_2247252_2261417	2253751	GGCGCGGT others(14): Show GGCGCGGTCTGCGCCTTCTTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02818.hp1 HG03579.hp2 HG02630.hp2 HG02818.hp1 HG03579.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0030 a0007c0009t0001g0065 a0007c0009t0001g0030 a0007c0009t0001g0065	3	436	0.0069	-21	c.284 others(28): Show c.284_304delGCAAGAAGGCGCAGACCGCGC	p.Arg others(12): Show p.Arg95_Ala101del	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	5/7	369/1138	284/996	95/331		chr19	TogoVar
JUND_chr19_18274694_18286622	18280864	CGCGCCCC others(2): Show CGCGCCCCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 HG02145.hp2 HG02155.hp2 others(1): Show HG01358.hp2 HG02145.hp2 HG02155.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 a0002c0002t0001 a0002c0002t0006 a0002c0002t0009	a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0009g0000 a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0009g0000	4	408	0.0098	-9	c.612 others(16): Show c.612_620delCGGGGGCGC	p.Gly others(13): Show p.Gly205_Ala207del	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding	1/1	758/1929	612/1044	204/347		chr19	TogoVar
KANK3_chr19_8317584_8348262	8325008	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00733.hp2 HG01074.hp2 others(60): Show HG00099.hp2 HG00733.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp2 NA19011.hp2 NA19054.hp2 NA19062.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0004 a0006 a0009 others(2): Show a0004 a0006 a0009 a0014 a0018	a0004c0004 a0004c0009 a0004c0019 others(5): Show a0004c0004 a0004c0009 a0004c0019 a0004c0033 a0006c0006 a0009c0013 a0014c0020 a0018c0021	a0004c0004t0002 a0004c0009t0002 a0004c0019t0002 others(5): Show a0004c0004t0002 a0004c0009t0002 a0004c0019t0002 a0004c0033t0004 a0006c0006t0002 a0009c0013t0004 a0014c0020t0004 a0018c0021t0004	a0004c0004t0002g0009 a0004c0004t0002g0010 a0004c0004t0002g0268 others(58): Show a0004c0004t0002g0009 a0004c0004t0002g0010 a0004c0004t0002g0268 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0276 a0004c0004t0002g0277 a0004c0004t0002g0279 a0004c0004t0002g0288 a0004c0004t0002g0289 a0004c0004t0002g0291 a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0304 a0004c0004t0002g0306 a0004c0004t0002g0307 a0004c0004t0002g0308 a0004c0004t0002g0309 a0004c0009t0002g0079 a0004c0009t0002g0099 a0004c0009t0002g0104 a0004c0009t0002g0108 a0004c0009t0002g0122 a0004c0019t0002g0273 a0004c0033t0004g0076 a0006c0006t0002g0112 a0006c0006t0002g0278 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0282 a0006c0006t0002g0283 a0006c0006t0002g0284 a0006c0006t0002g0285 a0006c0006t0002g0286 a0006c0006t0002g0287 a0006c0006t0002g0290 a0006c0006t0002g0292 a0006c0006t0002g0293 a0006c0006t0002g0294 a0006c0006t0002g0295 a0006c0006t0002g0296 a0006c0006t0002g0299 a0006c0006t0002g0302 a0006c0006t0002g0303 a0006c0006t0002g0305 a0006c0006t0002g0311 a0006c0006t0002g0312 a0006c0006t0002g0313 a0006c0006t0002g0338 a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 a0009c0013t0004g0053 a0014c0020t0004g0382 a0018c0021t0004g0310	63	406	0.1552	-3	c.202 others(12): Show c.2022_2024delGGA	p.Glu others(6): Show p.Glu674del	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	8/11	2090/2787	2022/2466	674/821		chr19	TogoVar
KANK3_chr19_8317584_8348262	8334065	CTCGCTGT others(5): Show CTCGCTGTCGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(137): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0012 others(2): Show a0002 a0003 a0012 a0013 a0017	a0002c0002 a0003c0003 a0003c0011 others(4): Show a0002c0002 a0003c0003 a0003c0011 a0003c0016 a0012c0032 a0013c0025 a0017c0026	a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 others(5): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 a0003c0011t0001 a0003c0016t0001 a0012c0032t0001 a0013c0025t0001 a0017c0026t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0078 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0374 a0002c0002t0001g0375 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0379 a0002c0002t0001g0380 a0002c0002t0001g0381 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0223 a0003c0003t0001g0241 a0003c0003t0001g0267 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0384 a0003c0003t0001g0385 a0003c0003t0006g0329 a0003c0003t0006g0336 a0003c0011t0001g0243 a0003c0011t0001g0244 a0003c0011t0001g0245 a0003c0011t0001g0246 a0003c0016t0001g0033 a0003c0016t0001g0034 a0012c0032t0001g0258 a0013c0025t0001g0370 a0017c0026t0001g0383	140	406	0.3448	-12	c.146 others(21): Show c.1467_1478delTGGCGACAGCGA	p.Asp others(13): Show p.Asp489_Ser492del	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	5/11	1544/2787	1467/2466	489/821		chr19	TogoVar
KAT2A_chr17_42108111_42126367	42118011	ACTGAAGC others(32): Show ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show HG02615.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp1 NA18957.hp1 NA18977.hp1 NA19066.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001	a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 others(2): Show a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0060 a0002c0014t0001g0027	13	354	0.0367	-39	c.118 others(51): Show c.1181-33_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAG CTTCAG	p.Ala others(13): Show p.Ala394_Ser395del	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	8/18	1249/3115	1181/2514	394/837		chr17	TogoVar
KAT6A_chr8_41924479_42056987	41937278	ATCT ATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18966.hp1 NA18978.hp2 NA18982.hp2 others(1): Show NA18966.hp1 NA18978.hp2 NA18982.hp2 NA19007.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0019 a0003c0006t0089 a0003c0006t0098 a0003c0006t0019 a0003c0006t0089 a0003c0006t0098	a0003c0006t0019g0352 a0003c0006t0019g0364 a0003c0006t0089g0300 others(1): Show a0003c0006t0019g0352 a0003c0006t0019g0364 a0003c0006t0089g0300 a0003c0006t0098g0345	4	374	0.0107	-3	c.332 others(12): Show c.3327_3329delAGA	p.Glu others(7): Show p.Glu1109del	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	16/17	3741/9153	3327/6015	1109/2004		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2001456	GGAGGAGC others(11): Show GGAGGAGCTCGCGTCCCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02132.hp1	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0135 a0008c0004t0001g0135	1	389	0.0026	-18	c.272 others(25): Show c.272_289delTCGCGTCCCCTGAGGAGC	p.Leu others(11): Show p.Leu91_Glu96del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	2/2	1439/6911	272/1872	91/623	INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNA5_chr12_5038879_5051788	5044331	TCGGGAGT others(26): Show TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0000 a0013c0010t0002g0000	1	452	0.0022	-33	c.213 others(40): Show c.213_245delGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC	p.Asp others(11): Show p.Asp72_Pro82del	KCNA5	ENSG00000130037.5	transcript	ENST00000252321.5	protein_coding	1/1	482/2910	213/1842	71/613	INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNA7_chr19_49062397_49077699	49070105	TGGA TGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00597.hp1 HG00733.hp1 others(54): Show HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18952.hp2 NA18953.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19079.hp1 NA19085.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0010	a0003c0003 a0003c0010 a0004c0004 others(2): Show a0003c0003 a0003c0010 a0004c0004 a0005c0005 a0010c0009	a0003c0003t0004 a0003c0003t0009 a0003c0003t0019 others(8): Show a0003c0003t0004 a0003c0003t0009 a0003c0003t0019 a0003c0003t0020 a0003c0003t0036 a0003c0003t0037 a0003c0010t0009 a0004c0004t0015 a0004c0004t0030 a0005c0005t0004 a0010c0009t0004	a0003c0003t0004g0004 a0003c0003t0004g0020 a0003c0003t0009g0011 others(10): Show a0003c0003t0004g0004 a0003c0003t0004g0020 a0003c0003t0009g0011 a0003c0003t0009g0054 a0003c0003t0019g0028 a0003c0003t0020g0029 a0003c0003t0036g0056 a0003c0003t0037g0057 a0003c0010t0009g0058 a0004c0004t0015g0017 a0004c0004t0030g0047 a0005c0005t0004g0019 a0010c0009t0004g0055	57	396	0.1439	-3	c.132 others(12): Show c.1326_1328delTCC	p.Pro others(6): Show p.Pro443del	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding	2/2	1442/4151	1326/1371	442/456		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79864067	CGCGCGGG others(5): Show CGCGCGGGGCCGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 NA19007.hp2 HG00673.hp1 NA19007.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0004 a0004c0008t0001 a0004c0008t0004	a0004c0008t0001g0042 a0004c0008t0004g0016 a0004c0008t0001g0042 a0004c0008t0004g0016	2	312	0.0064	-12	c.401 others(19): Show c.401_412delGCGCGGGGCCGA	p.Arg others(19): Show p.Arg134_Thr138delinsPro	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/4	592/1876	401/1401	134/466		chr18	TogoVar
KCNH4_chr17_42151891_42186142	42163289	AGGGGCCT others(135): Show AGGGGCCTCAGCTGTGCTGCCAGAGTCCTCAATGCCATCCACTATCCTGG GAACAGGGCAGTGCTCATCAGCACCATGGGGTGAGGGTAAGGGCCAGAGC AGAGCAGACAGAGGGGGACTGGGGGCAGCAGTGCCAGGGGGCG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0049 a0006c0012t0001g0049	1	326	0.0031	-142	c.247 others(12): Show c.2478-97_2522del	p.Ile others(13): Show p.Ile827_Pro841del	KCNH4	ENSG00000089558.9	transcript	ENST00000264661.4	protein_coding	14/17	2719/3788	2478/3054	826/1017		chr17	TogoVar
KCNN3_chr1_154692455_154875281	154869723	GGCT GGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01255.hp2 HG01515.hp1 others(5): Show HG01074.hp2 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG02451.hp2 HG02818.hp1 NA19043.hp1 NA19240.hp1	a0008 a0008	a0008c0016 a0008c0019 a0008c0037 a0008c0016 a0008c0019 a0008c0037	a0008c0016t0003 a0008c0016t0007 a0008c0016t0108 others(4): Show a0008c0016t0003 a0008c0016t0007 a0008c0016t0108 a0008c0019t0007 a0008c0019t0012 a0008c0019t0058 a0008c0037t0001	a0008c0016t0003g0214 a0008c0016t0007g0209 a0008c0016t0007g0210 others(5): Show a0008c0016t0003g0214 a0008c0016t0007g0209 a0008c0016t0007g0210 a0008c0016t0108g0207 a0008c0019t0007g0211 a0008c0019t0012g0208 a0008c0019t0058g0213 a0008c0037t0001g0212	8	238	0.0336	-3	c.239 others(10): Show c.239_241delAGC	p.Gln others(5): Show p.Gln80del	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	239/2196	80/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	GGCTGCT GGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02145.hp1 HG02486.hp1 others(7): Show HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1	a0007 a0007	a0007c0017 a0007c0020 a0007c0021 a0007c0017 a0007c0020 a0007c0021	a0007c0017t0005 a0007c0017t0022 a0007c0017t0097 others(6): Show a0007c0017t0005 a0007c0017t0022 a0007c0017t0097 a0007c0020t0079 a0007c0020t0082 a0007c0020t0086 a0007c0021t0006 a0007c0021t0080 a0007c0021t0098	a0007c0017t0005g0216 a0007c0017t0022g0219 a0007c0017t0022g0220 others(7): Show a0007c0017t0005g0216 a0007c0017t0022g0219 a0007c0017t0022g0220 a0007c0017t0097g0218 a0007c0020t0079g0215 a0007c0020t0082g0222 a0007c0020t0086g0223 a0007c0021t0006g0224 a0007c0021t0080g0221 a0007c0021t0098g0217	10	238	0.0420	-6	c.236 others(13): Show c.236_241delAGCAGC	p.Gln others(11): Show p.Gln79_Gln80del	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	236/2196	79/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01169.hp1 HG01169.hp1	a0016 a0016	a0016c0038 a0016c0038	a0016c0038t0006 a0016c0038t0006	a0016c0038t0006g0225 a0016c0038t0006g0225	1	238	0.0042	-12	c.230 others(19): Show c.230_241delAGCAGCAGCAGC	p.Gln others(11): Show p.Gln77_Gln80del	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	230/2196	77/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869854	TTGCTGCT others(2): Show TTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp2 HG01175.hp2 NA19007.hp1 HG00741.hp2 HG01175.hp2 NA19007.hp1	a0012 a0015 a0012 a0015	a0012c0022 a0015c0032 a0012c0022 a0015c0032	a0012c0022t0036 a0012c0022t0041 a0015c0032t0006 a0012c0022t0036 a0012c0022t0041 a0015c0032t0006	a0012c0022t0036g0004 a0012c0022t0041g0005 a0015c0032t0006g0006 a0012c0022t0036g0004 a0012c0022t0041g0005 a0015c0032t0006g0006	3	238	0.0126	-9	c.102 others(16): Show c.102_110delGCAGCAGCA	p.Gln others(11): Show p.Gln35_Gln37del	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	427/13034	102/2196	34/731		chr1	TogoVar
KCTD1_chr18_26449910_26553553	26548258	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp1 HG02976.hp2 HG03139.hp1 others(6): Show HG01255.hp1 HG02976.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA20805.hp1	a0003 a0003	a0003c0005 a0003c0010 a0003c0005 a0003c0010	a0003c0005t0001 a0003c0010t0003 a0003c0005t0001 a0003c0010t0003	a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0007 others(6): Show a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0007 a0003c0005t0001g0008 a0003c0005t0001g0009 a0003c0005t0001g0010 a0003c0005t0001g0011 a0003c0005t0001g0012 a0003c0010t0003g0004	9	338	0.0266	-3	c.276 others(10): Show c.276_278delGGA	p.Glu others(5): Show p.Glu93del	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	295/3448	276/2598	92/865		chr18	TogoVar
KDM6B_chr17_7829217_7859796	7846859	TACC TACC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp1 HG02056.hp1 HG02074.hp2 others(11): Show HG00621.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02735.hp2 NA18943.hp2 NA18963.hp1 NA18971.hp2 NA18977.hp1 NA19010.hp1 NA19057.hp2 NA19075.hp2 NA19091.hp2	a0008 a0021 a0027 others(1): Show a0008 a0021 a0027 a0040	a0008c0012 a0008c0076 a0008c0077 others(3): Show a0008c0012 a0008c0076 a0008c0077 a0021c0033 a0027c0092 a0040c0075	a0008c0012t0001 a0008c0076t0001 a0008c0077t0013 others(3): Show a0008c0012t0001 a0008c0076t0001 a0008c0077t0013 a0021c0033t0001 a0027c0092t0001 a0040c0075t0001	a0008c0012t0001g0016 a0008c0012t0001g0058 a0008c0012t0001g0069 others(10): Show a0008c0012t0001g0016 a0008c0012t0001g0058 a0008c0012t0001g0069 a0008c0012t0001g0078 a0008c0012t0001g0085 a0008c0012t0001g0096 a0008c0012t0001g0099 a0008c0076t0001g0090 a0008c0077t0013g0087 a0021c0033t0001g0092 a0021c0033t0001g0093 a0027c0092t0001g0086 a0040c0075t0001g0097	14	388	0.0361	-3	c.789 others(10): Show c.789_791delACC	p.Pro others(6): Show p.Pro264del	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1310/6728	789/4932	263/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	TACCACC TACCACC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00544.hp2 HG00597.hp2 others(51): Show HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18967.hp1 NA18982.hp1 NA18990.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp2 NA19083.hp2	a0002 a0010 a0016 others(3): Show a0002 a0010 a0016 a0037 a0038 a0039	a0002c0003 a0002c0079 a0010c0008 others(5): Show a0002c0003 a0002c0079 a0010c0008 a0016c0034 a0016c0035 a0037c0081 a0038c0080 a0039c0078	a0002c0003t0001 a0002c0003t0002 a0002c0003t0022 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0022 a0002c0079t0001 a0010c0008t0001 a0016c0034t0001 a0016c0035t0001 a0037c0081t0001 a0038c0080t0001 a0039c0078t0001	a0002c0003t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0015 others(43): Show a0002c0003t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0064 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0223 a0002c0003t0002g0001 a0002c0003t0002g0067 a0002c0003t0022g0017 a0002c0079t0001g0018 a0010c0008t0001g0006 a0010c0008t0001g0014 a0010c0008t0001g0066 a0010c0008t0001g0075 a0010c0008t0001g0076 a0010c0008t0001g0079 a0010c0008t0001g0091 a0016c0034t0001g0014 a0016c0034t0001g0057 a0016c0035t0001g0063 a0016c0035t0001g0068 a0037c0081t0001g0015 a0038c0080t0001g0001 a0039c0078t0001g0073	54	388	0.1392	-6	c.786 others(13): Show c.786_791delACCACC	p.Pro others(13): Show p.Pro263_Pro264del	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1307/6728	786/4932	262/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7848540	TCACCAC TCACCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00544.hp2 HG00597.hp2 others(68): Show HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp2 NA18977.hp1 NA18982.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19075.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19091.hp2	a0002 a0008 a0010 others(9): Show a0002 a0008 a0010 a0016 a0021 a0022 a0027 a0037 a0038 a0039 a0040 a0049	a0002c0003 a0002c0079 a0008c0012 others(13): Show a0002c0003 a0002c0079 a0008c0012 a0008c0076 a0008c0077 a0010c0008 a0016c0034 a0016c0035 a0021c0033 a0022c0032 a0027c0092 a0037c0081 a0038c0080 a0039c0078 a0040c0075 a0049c0067	a0002c0003t0001 a0002c0003t0002 a0002c0003t0022 others(15): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0022 a0002c0079t0001 a0008c0012t0001 a0008c0076t0001 a0008c0077t0013 a0010c0008t0001 a0016c0034t0001 a0016c0035t0001 a0021c0033t0001 a0022c0032t0001 a0027c0092t0001 a0037c0081t0001 a0038c0080t0001 a0039c0078t0001 a0040c0075t0001 a0049c0067t0001	a0002c0003t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0015 others(59): Show a0002c0003t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0064 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0223 a0002c0003t0002g0001 a0002c0003t0002g0067 a0002c0003t0022g0017 a0002c0079t0001g0018 a0008c0012t0001g0016 a0008c0012t0001g0058 a0008c0012t0001g0069 a0008c0012t0001g0078 a0008c0012t0001g0085 a0008c0012t0001g0096 a0008c0012t0001g0099 a0008c0076t0001g0090 a0008c0077t0013g0087 a0010c0008t0001g0006 a0010c0008t0001g0014 a0010c0008t0001g0066 a0010c0008t0001g0075 a0010c0008t0001g0076 a0010c0008t0001g0079 a0010c0008t0001g0091 a0016c0034t0001g0014 a0016c0034t0001g0057 a0016c0035t0001g0063 a0016c0035t0001g0068 a0021c0033t0001g0092 a0021c0033t0001g0093 a0022c0032t0001g0059 a0022c0032t0001g0072 a0027c0092t0001g0086 a0037c0081t0001g0015 a0038c0080t0001g0001 a0039c0078t0001g0073 a0040c0075t0001g0097 a0049c0067t0001g0065	71	388	0.1830	-6	c.228 others(15): Show c.2280_2285delCACCAC	p.Thr others(13): Show p.Thr761_Thr762del	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	12/24	2801/6728	2280/4932	760/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KHDC3L_chr6_73357658_73369171	73363661	GGGAGGCC others(62): Show GGGAGGCCGGGACCCAGCGTTCGGTGGAAGTCCAGGAGGTCGGGACACAG GGTTCTCCGGTGGAGGTGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18993.hp1 NA19091.hp2 NA18993.hp1 NA19091.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	2	434	0.0046	-69	c.473 others(76): Show c.473_541delGTTCGGTGGAAGTCCAGGAGGTCGGGACACAGGGTTCT CCGGTGGAGGTGCAGGAGGCCGGGACCCAGC	p.Arg others(13): Show p.Arg158_Gln180del	KHDC3L	ENSG00000203908.4	transcript	ENST00000370367.4	protein_coding	3/3	545/1037	473/654	158/217	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIAA1614_chr1_180907897_180956614	180935876	GCCACAGG others(74): Show GCCACAGGTGGTCCAAGAAGGCTGAGGCGGAGCTCCCTTGGGGCCTTCAG GCCCAGCAACACCTGCCTAGGGCTGATGATGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18989.hp2 NA18989.hp2	a0029 a0029	a0029c0042 a0029c0042	a0029c0042t0084 a0029c0042t0084	a0029c0042t0084g0050 a0029c0042t0084g0050	1	430	0.0023	-81	c.196 others(90): Show c.1968_2048delCCACAGGTGGTCCAAGAAGGCTGAGGCGGAGCTCCC TTGGGGCCTTCAGGCCCAGCAACACCTGCCTAGGGCTGATGATGT	p.His others(13): Show p.His657_Val683del	KIAA1614	ENSG00000135835.12	transcript	ENST00000367588.9	protein_coding	5/9	2315/9946	1968/3573	656/1190		chr1	TogoVar
KIAA2026_chr9_5914022_6013482	5968648	CTGCTACA others(14): Show CTGCTACATCTATGTTCTCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp1 HG00544.hp1	a0025 a0025	a0025c0034 a0025c0034	a0025c0034t0012 a0025c0034t0012	a0025c0034t0012g0217 a0025c0034t0012g0217	1	374	0.0027	-21	c.156 others(30): Show c.1562_1582delATGGAGAACATAGATGTAGCA	p.Asn others(13): Show p.Asn521_Ser527del	KIAA2026	ENSG00000183354.12	transcript	ENST00000399933.8	protein_coding	3/8	2277/7669	1562/6312	521/2103		chr9	TogoVar
KIF1A_chr2_240708767_240825219	240757423	ATCC ATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(221): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0007 a0008 a0009 a0010 a0014	a0001c0001 a0001c0003 a0001c0004 others(35): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0048 a0001c0049 a0001c0051 a0001c0052 a0001c0053 a0005c0050 a0006c0035 a0007c0031 a0008c0034 a0009c0042 a0010c0041 a0014c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(98): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0001c0003t0018 a0001c0003t0030 a0001c0003t0041 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0021 a0001c0004t0025 a0001c0004t0037 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0006t0006 a0001c0006t0007 a0001c0006t0012 a0001c0006t0013 a0001c0006t0043 a0001c0007t0001 a0001c0007t0003 a0001c0007t0008 a0001c0007t0017 a0001c0008t0001 a0001c0008t0004 a0001c0008t0009 a0001c0011t0009 a0001c0011t0010 a0001c0011t0044 a0001c0012t0005 a0001c0012t0006 a0001c0012t0020 a0001c0015t0004 a0001c0015t0009 a0001c0017t0004 a0001c0017t0007 a0001c0017t0009 a0001c0018t0002 a0001c0019t0010 a0001c0020t0001 a0001c0020t0032 a0001c0022t0006 a0001c0023t0004 a0001c0023t0007 a0001c0024t0007 a0001c0025t0035 a0001c0027t0011 a0001c0028t0001 a0001c0032t0013 a0001c0033t0002 a0001c0043t0022 a0001c0044t0028 a0001c0045t0006 a0001c0046t0006 a0001c0048t0004 a0001c0049t0022 a0001c0051t0017 a0001c0052t0007 a0001c0053t0007 a0005c0050t0005 a0006c0035t0009 a0007c0031t0003 a0008c0034t0001 a0009c0042t0020 a0010c0041t0002 a0014c0029t0001	a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0091 others(220): Show a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0001g0328 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0187 a0001c0001t0002g0232 a0001c0001t0002g0277 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0321 a0001c0001t0003g0086 a0001c0001t0003g0170 a0001c0001t0003g0186 a0001c0001t0003g0257 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0004g0088 a0001c0001t0004g0209 a0001c0001t0004g0306 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0069 a0001c0001t0005g0081 a0001c0001t0005g0087 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0128 a0001c0001t0005g0319 a0001c0001t0006g0114 a0001c0001t0006g0198 a0001c0001t0006g0305 a0001c0001t0006g0309 a0001c0001t0007g0063 a0001c0001t0009g0291 a0001c0001t0010g0005 a0001c0001t0010g0006 a0001c0001t0010g0016 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0011g0298 a0001c0001t0011g0315 a0001c0001t0011g0324 a0001c0001t0012g0326 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0014g0125 a0001c0001t0015g0084 a0001c0001t0015g0085 a0001c0001t0016g0042 a0001c0001t0016g0116 a0001c0001t0016g0199 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0026g0079 a0001c0001t0027g0317 a0001c0001t0033g0167 a0001c0001t0034g0329 a0001c0001t0038g0166 a0001c0001t0039g0297 a0001c0001t0040g0236 a0001c0001t0045g0228 a0001c0001t0047g0083 a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0001g0089 a0001c0003t0001g0184 a0001c0003t0001g0188 a0001c0003t0001g0202 a0001c0003t0001g0296 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0320 a0001c0003t0002g0323 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0053 a0001c0003t0003g0112 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0200 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0226 a0001c0003t0003g0300 a0001c0003t0008g0103 a0001c0003t0008g0195 a0001c0003t0011g0118 a0001c0003t0018g0051 a0001c0003t0018g0191 a0001c0003t0030g0185 a0001c0003t0041g0313 a0001c0004t0001g0011 a0001c0004t0001g0024 a0001c0004t0001g0071 a0001c0004t0001g0138 a0001c0004t0001g0141 a0001c0004t0001g0178 a0001c0004t0001g0234 a0001c0004t0001g0325 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0002g0139 a0001c0004t0004g0002 a0001c0004t0004g0168 a0001c0004t0004g0201 a0001c0004t0005g0009 a0001c0004t0005g0010 a0001c0004t0005g0070 a0001c0004t0005g0077 a0001c0004t0005g0156 a0001c0004t0005g0237 a0001c0004t0006g0023 a0001c0004t0006g0134 a0001c0004t0006g0135 a0001c0004t0006g0275 a0001c0004t0007g0155 a0001c0004t0012g0100 a0001c0004t0012g0225 a0001c0004t0021g0072 a0001c0004t0025g0148 a0001c0004t0037g0004 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0210 a0001c0005t0004g0034 a0001c0005t0004g0035 a0001c0005t0004g0040 a0001c0005t0005g0033 a0001c0005t0007g0008 a0001c0005t0007g0019 a0001c0005t0007g0030 a0001c0005t0007g0038 a0001c0005t0007g0041 a0001c0005t0007g0137 a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0002g0029 a0001c0006t0002g0095 a0001c0006t0005g0026 a0001c0006t0006g0022 a0001c0006t0007g0174 a0001c0006t0012g0020 a0001c0006t0013g0021 a0001c0006t0013g0025 a0001c0006t0043g0061 a0001c0007t0001g0058 a0001c0007t0001g0075 a0001c0007t0003g0052 a0001c0007t0008g0076 a0001c0007t0008g0078 a0001c0007t0017g0182 a0001c0007t0017g0183 a0001c0008t0001g0001 a0001c0008t0004g0292 a0001c0008t0009g0012 a0001c0008t0009g0013 a0001c0011t0009g0149 a0001c0011t0009g0151 a0001c0011t0010g0150 a0001c0011t0044g0153 a0001c0012t0005g0109 a0001c0012t0006g0062 a0001c0012t0006g0113 a0001c0012t0020g0147 a0001c0015t0004g0157 a0001c0015t0009g0015 a0001c0015t0009g0031 a0001c0015t0009g0158 a0001c0017t0004g0032 a0001c0017t0007g0163 a0001c0017t0009g0165 a0001c0018t0002g0097 a0001c0018t0002g0098 a0001c0019t0010g0003 a0001c0019t0010g0146 a0001c0020t0001g0222 a0001c0020t0032g0221 a0001c0022t0006g0133 a0001c0022t0006g0136 a0001c0023t0004g0159 a0001c0023t0007g0162 a0001c0024t0007g0131 a0001c0024t0007g0132 a0001c0025t0035g0142 a0001c0027t0011g0322 a0001c0028t0001g0220 a0001c0032t0013g0145 a0001c0033t0002g0314 a0001c0043t0022g0276 a0001c0044t0028g0144 a0001c0045t0006g0284 a0001c0046t0006g0140 a0001c0048t0004g0318 a0001c0049t0022g0160 a0001c0051t0017g0101 a0001c0052t0007g0039 a0001c0053t0007g0036 a0005c0050t0005g0164 a0006c0035t0009g0152 a0007c0031t0003g0233 a0008c0034t0001g0281 a0009c0042t0020g0294 a0010c0041t0002g0093 a0014c0029t0001g0196	224	330	0.6788	-3	c.275 others(12): Show c.2751_2753delGGA	p.Glu others(6): Show p.Glu917del	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	27/49	2911/9131	2751/5376	917/1791		chr2	TogoVar
KIF1A_chr2_240708767_240825219	240757423	ATCCTCC ATCCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp1 HG03540.hp2 homoSapiens_chm13v2.hp1 HG02622.hp1 HG03540.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0015 a0004c0016t0004 a0004c0016t0015	a0004c0016t0004g0007 a0004c0016t0004g0014 a0004c0016t0015g0094 a0004c0016t0004g0007 a0004c0016t0004g0014 a0004c0016t0015g0094	3	330	0.0091	-6	c.274 others(15): Show c.2748_2753delGGAGGA	p.Glu others(13): Show p.Glu916_Glu917del	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	27/49	2911/9131	2748/5376	916/1791		chr2	TogoVar
KIFC3_chr16_57753217_57807491	57795086	TGCACTTC others(2): Show TGCACTTCGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG03225.hp1 HG03471.hp2 others(1): Show HG02451.hp1 HG03225.hp1 HG03471.hp2 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0287 a0002c0004t0001g0290 a0002c0004t0001g0291 others(1): Show a0002c0004t0001g0287 a0002c0004t0001g0290 a0002c0004t0001g0291 a0002c0004t0001g0292	4	392	0.0102	-9	c.219 others(16): Show c.219_227delCCGAAGTGC	p.Arg others(11): Show p.Arg74_Ala76del	KIFC3	ENSG00000140859.16	transcript	ENST00000445690.7	protein_coding	3/20	388/3359	219/2481	73/826		chr16	TogoVar
KLF13_chr15_31321835_31382899	31327505	TGCC TGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02738.hp1 NA18969.hp1 NA18977.hp1 others(4): Show HG02738.hp1 NA18969.hp1 NA18977.hp1 NA18993.hp1 NA19056.hp2 NA19078.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0025 a0002c0003t0033 a0002c0003t0001 a0002c0003t0025 a0002c0003t0033	a0002c0003t0001g0024 a0002c0003t0001g0128 a0002c0003t0001g0175 others(4): Show a0002c0003t0001g0024 a0002c0003t0001g0128 a0002c0003t0001g0175 a0002c0003t0001g0178 a0002c0003t0001g0200 a0002c0003t0025g0173 a0002c0003t0033g0024	7	409	0.0171	-3	c.300 others(10): Show c.300_302delGCC	p.Pro others(6): Show p.Pro101del	KLF13	ENSG00000169926.11	transcript	ENST00000307145.4	protein_coding	1/2	678/6845	300/867	100/288	INFO_REALIGN_3_PRIME	chr15	TogoVar
KLF16_chr19_1847399_1868579	1863126	GGCGGCGG others(8): Show GGCGGCGGCGGAGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0062 a0003c0011t0003g0062	1	398	0.0025	-15	c.357 others(22): Show c.357_371delGCCCTCCGCCGCCGC	p.Pro others(13): Show p.Pro120_Ala124del	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	1/2	453/2901	357/759	119/252		chr19	TogoVar
KLF17_chr1_44113821_44140140	44130707	CCAA CCAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG00544.hp1 HG00609.hp1 others(110): Show HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp2 HG03098.hp2 HG03486.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18997.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0011 a0002c0002 a0002c0009 a0002c0011	a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 others(4): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0009t0002 a0002c0011t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 others(64): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0056 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0114 a0002c0002t0002g0121 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0154 a0002c0002t0002g0156 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0234 a0002c0002t0002g0260 a0002c0002t0002g0266 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0008g0002 a0002c0002t0008g0004 a0002c0002t0008g0093 a0002c0002t0014g0176 a0002c0002t0016g0008 a0002c0002t0017g0004 a0002c0009t0002g0052 a0002c0011t0002g0019	113	444	0.2545	-3	c.113 others(12): Show c.1131_1133delCAA	p.Asn others(6): Show p.Asn378del	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	3/4	1218/3160	1131/1170	377/389	INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF18_chr1_44132821_44146631	44139074	TGCCCCCC others(326): Show TGCCCCCCATAGAGGGCCTGGTTACCAGTGGAGGTCGTCACCTGCTCCCC ACAGAGGGTCTGGTTACTAGTGGAGGTCGTCATCTGCTCTCCACAGAGGG TCTGGTTACTAGTGGAGGTCGTGATCTGCCCCCTGTAGAGGGCCTGGTTA CCAGTGGAGGTCGTCACCTGCTCCCCACAGAGGGTCTGGTTACTAGTGGG GGTCGTCATCTGCTCTCCACAGAGGGTCTGGTTACTAGTAGAGGTCGTCA TCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCT CCACAGAGGTTCTGGTTACCAGTGGAGGTCATCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00639.hp1 HG01167.hp1 others(19): Show HG00280.hp1 HG00639.hp1 HG01167.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0011 a0020 others(3): Show a0006 a0011 a0020 a0021 a0026 a0031	a0006c0006 a0011c0015 a0020c0039 others(3): Show a0006c0006 a0011c0015 a0020c0039 a0021c0035 a0026c0023 a0031c0024	a0006c0006t0000 a0011c0015t0000 a0020c0039t0000 others(3): Show a0006c0006t0000 a0011c0015t0000 a0020c0039t0000 a0021c0035t0000 a0026c0023t0000 a0031c0024t0000	a0006c0006t0000g0006 a0011c0015t0000g0015 a0020c0039t0000g0041 others(3): Show a0006c0006t0000g0006 a0011c0015t0000g0015 a0020c0039t0000g0041 a0021c0035t0000g0037 a0026c0023t0000g0023 a0031c0024t0000g0024	22	428	0.0514	-333	c.222 others(9): Show c.2225_2557del	p.Met others(19): Show p.Met742_Gln853delinsLys	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2557/3159	2225/3159	742/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139383	TTCTGGTT others(35): Show TTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(29): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp1 HG02165.hp2 HG02523.hp1 HG03710.hp1 NA18747.hp2 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp1 NA18990.hp2 NA19000.hp1 NA19054.hp2 NA19059.hp2 NA19065.hp1 NA19077.hp2 NA19078.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0004 a0013 a0027 a0004 a0013 a0027	a0004c0004 a0004c0026 a0013c0016 others(1): Show a0004c0004 a0004c0026 a0013c0016 a0027c0028	a0004c0004t0000 a0004c0026t0000 a0013c0016t0000 others(1): Show a0004c0004t0000 a0004c0026t0000 a0013c0016t0000 a0027c0028t0000	a0004c0004t0000g0004 a0004c0026t0000g0027 a0013c0016t0000g0016 others(1): Show a0004c0004t0000g0004 a0004c0026t0000g0027 a0013c0016t0000g0016 a0027c0028t0000g0030	32	428	0.0748	-42	c.220 others(51): Show c.2207_2248delCCCTCTACTGGGGGCAGATGATGACCTCCACTGGTA ACCAGA	p.Thr others(13): Show p.Thr736_Gln749del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2248/3159	2207/3159	736/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139587	TAGAGGGC others(35): Show TAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0000 a0020c0039t0000	a0020c0039t0000g0041 a0020c0039t0000g0041	1	428	0.0023	-42	c.200 others(51): Show c.2003_2044delGTGGAGAGCAGATGACAACCTCCACTGGTAACCAGG CCCTCT	p.Cys others(13): Show p.Cys668_Leu681del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2044/3159	2003/3159	668/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44140267	CTGGTTAC others(77): Show CTGGTTACTAGTGGAGGTCATCACTTGCTCTCCACAGAGGTTCTGGTTAC CAGTGGAGGTCGTCATCTGCCCTCCACAGAGGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp1 NA18906.hp1	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0000 a0023c0032t0000	a0023c0032t0000g0034 a0023c0032t0000g0034	1	428	0.0023	-84	c.128 others(93): Show c.1281_1364delAGCCCTCTGTGGAGGGCAGATGACGACCTCCACTGG TAACCAGAACCTCTGTGGAGAGCAAGTGATGACCTCCACTAGTAACCA	p.Ala others(13): Show p.Ala428_Gln455del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1364/3159	1281/3159	427/1052		chr1	TogoVar
KLF4_chr9_107479852_107494769	107487627	TCAGGGCT others(44): Show TCAGGGCTGCCTTTGCTGACGCTGATGACCGACGGGCTGCCGTACTCGCT GC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0019 a0003c0007t0001g0019	1	428	0.0023	-51	c.716 others(58): Show c.716_766delGCAGCGAGTACGGCAGCCCGTCGGTCATCAGCGTCAGC AAAGGCAGCCCTG	p.Gly others(13): Show p.Gly239_Pro255del	KLF4	ENSG00000136826.15	transcript	ENST00000374672.5	protein_coding	3/5	1363/2936	716/1440	239/479		chr9	TogoVar
KLHDC7B_chr22_50540899_50556023	50547870	CCATCCCC others(65): Show CCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCC AACTCCAGCCCTAACCCCAGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(264): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(17): Show a0001 a0004 a0005 a0006 a0007 a0017 a0018 a0020 a0025 a0033 a0034 a0035 a0036 a0037 a0038 a0040 a0048 a0049 a0050 a0051	a0001c0001 a0001c0005 a0001c0009 others(35): Show a0001c0001 a0001c0005 a0001c0009 a0001c0027 a0001c0029 a0001c0054 a0001c0067 a0001c0070 a0001c0073 a0004c0004 a0004c0025 a0004c0071 a0004c0072 a0005c0006 a0005c0036 a0005c0038 a0006c0007 a0006c0039 a0007c0010 a0007c0016 a0007c0060 a0007c0068 a0017c0017 a0018c0028 a0018c0037 a0020c0021 a0025c0075 a0033c0062 a0034c0063 a0035c0066 a0036c0065 a0037c0064 a0038c0035 a0040c0061 a0048c0050 a0049c0041 a0050c0074 a0051c0031	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(43): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0005t0001 a0001c0005t0006 a0001c0009t0001 a0001c0027t0001 a0001c0029t0001 a0001c0054t0001 a0001c0067t0001 a0001c0070t0001 a0001c0073t0001 a0004c0004t0004 a0004c0025t0004 a0004c0071t0004 a0004c0072t0004 a0005c0006t0005 a0005c0006t0008 a0005c0006t0015 a0005c0036t0005 a0005c0038t0005 a0006c0007t0001 a0006c0007t0006 a0006c0039t0009 a0007c0010t0007 a0007c0016t0007 a0007c0060t0007 a0007c0068t0007 a0017c0017t0008 a0018c0028t0011 a0018c0028t0018 a0018c0037t0024 a0020c0021t0011 a0020c0021t0014 a0025c0075t0004 a0033c0062t0001 a0034c0063t0001 a0035c0066t0001 a0036c0065t0003 a0037c0064t0001 a0038c0035t0001 a0040c0061t0001 a0048c0050t0004 a0049c0041t0002 a0050c0074t0014 a0051c0031t0001	a0001c0001t0001g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 others(43): Show a0001c0001t0001g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0005t0001g0000 a0001c0005t0006g0000 a0001c0009t0001g0000 a0001c0027t0001g0000 a0001c0029t0001g0000 a0001c0054t0001g0000 a0001c0067t0001g0000 a0001c0070t0001g0000 a0001c0073t0001g0000 a0004c0004t0004g0000 a0004c0025t0004g0000 a0004c0071t0004g0000 a0004c0072t0004g0000 a0005c0006t0005g0000 a0005c0006t0008g0000 a0005c0006t0015g0000 a0005c0036t0005g0000 a0005c0038t0005g0000 a0006c0007t0001g0000 a0006c0007t0006g0000 a0006c0039t0009g0000 a0007c0010t0007g0000 a0007c0016t0007g0000 a0007c0060t0007g0000 a0007c0068t0007g0000 a0017c0017t0008g0000 a0018c0028t0011g0000 a0018c0028t0018g0000 a0018c0037t0024g0000 a0020c0021t0011g0000 a0020c0021t0014g0000 a0025c0075t0004g0000 a0033c0062t0001g0000 a0034c0063t0001g0000 a0035c0066t0001g0000 a0036c0065t0003g0000 a0037c0064t0001g0000 a0038c0035t0001g0000 a0040c0061t0001g0000 a0048c0050t0004g0000 a0049c0041t0002g0000 a0050c0074t0014g0000 a0051c0031t0001g0000	267	432	0.6181	-72	c.168 others(81): Show c.1688_1759delTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCC CAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCC	p.Leu others(13): Show p.Leu563_Ala586del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2033/5125	1688/3708	563/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50547883	TAACCCCA others(5): Show TAACCCCAGTCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp1 HG01243.hp1 HG04199.hp1 others(2): Show HG01074.hp1 HG01243.hp1 HG04199.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0015 a0029 a0030 a0015 a0029 a0030	a0015c0022 a0029c0058 a0030c0077 a0015c0022 a0029c0058 a0030c0077	a0015c0022t0008 a0029c0058t0006 a0030c0077t0008 a0015c0022t0008 a0029c0058t0006 a0030c0077t0008	a0015c0022t0008g0000 a0029c0058t0006g0000 a0030c0077t0008g0000 a0015c0022t0008g0000 a0029c0058t0006g0000 a0030c0077t0008g0000	5	432	0.0116	-12	c.164 others(21): Show c.1649_1660delTCCCAACCCCAG	p.Val others(13): Show p.Val550_Pro553del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	1994/5125	1649/3708	550/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50547927	GCCCTAAC others(113): Show GCCCTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGC CCTAAGCCCAGCTCCAACTCCAGCCCCAACCCCAGCCGCATCCCCTGCCC CAGCCCCCACCTCAGCCCCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01192.hp2 HG02015.hp2 HG02074.hp1 HG01192.hp2 HG02015.hp2 HG02074.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0002 a0019c0019t0002	a0019c0019t0002g0000 a0019c0019t0002g0000	3	432	0.0069	-120	c.168 others(9): Show c.1688_1807del	p.Leu others(13): Show p.Leu563_Thr602del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2033/5125	1688/3708	563/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50547999	GCCCCAAC others(41): Show GCCCCAACCCCAGCCGCATCCCCTGCCCCAGCCCCCACCTCAGCCCCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00597.hp2 HG00673.hp2 others(80): Show HG00408.hp2 HG00597.hp2 HG00673.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0012 others(11): Show a0002 a0009 a0012 a0015 a0016 a0023 a0026 a0029 a0030 a0042 a0043 a0044 a0045 a0046	a0002c0002 a0002c0040 a0002c0044 others(15): Show a0002c0002 a0002c0040 a0002c0044 a0009c0011 a0012c0013 a0012c0052 a0015c0022 a0016c0018 a0023c0045 a0023c0046 a0026c0057 a0029c0058 a0030c0077 a0042c0053 a0043c0042 a0044c0043 a0045c0047 a0046c0048	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(19): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0023 a0002c0040t0002 a0002c0044t0002 a0009c0011t0003 a0009c0011t0025 a0012c0013t0003 a0012c0052t0003 a0015c0022t0008 a0016c0018t0013 a0023c0045t0002 a0023c0046t0006 a0026c0057t0003 a0029c0058t0006 a0030c0077t0008 a0042c0053t0003 a0043c0042t0006 a0044c0043t0022 a0045c0047t0002 a0046c0048t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 others(19): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 a0002c0002t0023g0000 a0002c0040t0002g0000 a0002c0044t0002g0000 a0009c0011t0003g0000 a0009c0011t0025g0000 a0012c0013t0003g0000 a0012c0052t0003g0000 a0015c0022t0008g0000 a0016c0018t0013g0000 a0023c0045t0002g0000 a0023c0046t0006g0000 a0026c0057t0003g0000 a0029c0058t0006g0000 a0030c0077t0008g0000 a0042c0053t0003g0000 a0043c0042t0006g0000 a0044c0043t0022g0000 a0045c0047t0002g0000 a0046c0048t0002g0000	83	432	0.1921	-48	c.178 others(57): Show c.1788_1835delCCCCACCTCAGCCCCAACCCCAACCCCAGCCGCATC CCCTGCCCCAGC	p.Pro others(13): Show p.Pro597_Ala612del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2133/5125	1788/3708	596/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KMT2D_chr12_49013978_49065794	49051373	CAGGTGTG others(20): Show CAGGTGTGGCTCCTCAGCCTGCGGAGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp2 HG01169.hp2 HG02486.hp1 others(2): Show HG01167.hp2 HG01169.hp2 HG02486.hp1 HG02976.hp2 HG03453.hp2	a0008 a0040 a0008 a0040	a0008c0009 a0040c0075 a0008c0009 a0040c0075	a0008c0009t0001 a0008c0009t0002 a0040c0075t0002 a0008c0009t0001 a0008c0009t0002 a0040c0075t0002	a0008c0009t0001g0038 a0008c0009t0001g0039 a0008c0009t0001g0041 others(2): Show a0008c0009t0001g0038 a0008c0009t0001g0039 a0008c0009t0001g0041 a0008c0009t0002g0040 a0040c0075t0002g0193	5	302	0.0166	-27	c.228 others(36): Show c.2283_2309delATCTCCGCAGGCTGAGGAGCCACACCT	p.Ser others(13): Show p.Ser762_Leu770del	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	11/55	3528/20635	2283/16614	761/5537		chr12	TogoVar
KMT2D_chr12_49013978_49065794	49051406	TGGCTCCT others(20): Show TGGCTCCTCAGGCCGGGGGGACAGGTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 NA19240.hp2 HG02109.hp2 NA19240.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0016 a0009c0019t0001g0016	2	302	0.0066	-27	c.225 others(36): Show c.2250_2276delGCACCTGTCCCCCCGGCCTGAGGAGCC	p.His others(13): Show p.His751_Pro759del	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	11/55	3495/20635	2250/16614	750/5537		chr12	TogoVar
KMT2D_chr12_49013978_49065794	49051568	TGAGTCCT others(20): Show TGAGTCCTCAGGTGGTGGGGATGTGGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18988.hp2 NA18988.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0002 a0014c0029t0002	a0014c0029t0002g0067 a0014c0029t0002g0067	1	302	0.0033	-27	c.208 others(36): Show c.2088_2114delCCCCACATCCCCACCACCTGAGGACTC	p.Pro others(13): Show p.Pro697_Ser705del	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	11/55	3333/20635	2088/16614	696/5537		chr12	TogoVar
KMT5B_chr11_68149863_68218296	68157814	GTCA GTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 HG02922.hp1 HG03516.hp2 HG02896.hp2 HG02922.hp1 HG03516.hp2	a0002 a0004 a0002 a0004	a0002c0010 a0004c0005 a0002c0010 a0004c0005	a0002c0010t0004 a0004c0005t0004 a0002c0010t0004 a0004c0005t0004	a0002c0010t0004g0193 a0004c0005t0004g0191 a0004c0005t0004g0192 a0002c0010t0004g0193 a0004c0005t0004g0191 a0004c0005t0004g0192	3	328	0.0092	-3	c.252 others(12): Show c.2529_2531delTGA	p.Asp others(6): Show p.Asp844del	KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	11/11	2766/5718	2529/2658	843/885		chr11	TogoVar
KRI1_chr19_10548085_10571010	10560338	ATCTTCCT others(5): Show ATCTTCCTCCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02809.hp1 HG02886.hp2 others(2): Show HG02280.hp1 HG02809.hp1 HG02886.hp2 HG03130.hp2 NA18906.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0009 a0009c0013t0001 a0009c0013t0009	a0009c0013t0001g0022 a0009c0013t0009g0037 a0009c0013t0001g0022 a0009c0013t0009g0037	5	406	0.0123	-12	c.762 others(19): Show c.762_773delGGAGGAGGAAGA	p.Glu others(13): Show p.Glu254_Glu257del	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding	9/19	784/2989	762/2112	254/703		chr19	TogoVar
KRT10_chr17_40813117_40827614	40818999	GCCGCCGC others(8): Show GCCGCCGCCGGAGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00621.hp2 HG00673.hp1 others(37): Show HG00438.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18954.hp1 NA18961.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19083.hp2 NA20905.hp2	a0006 a0010 a0025 a0006 a0010 a0025	a0006c0005 a0010c0011 a0025c0031 a0006c0005 a0010c0011 a0025c0031	a0006c0005t0001 a0010c0011t0001 a0025c0031t0001 a0006c0005t0001 a0010c0011t0001 a0025c0031t0001	a0006c0005t0001g0004 a0010c0011t0001g0010 a0025c0031t0001g0041 a0006c0005t0001g0004 a0010c0011t0001g0010 a0025c0031t0001g0041	40	426	0.0939	-15	c.152 others(24): Show c.1521_1535delAAGCTCCGGCGGCGG	p.Ser others(13): Show p.Ser508_Gly512del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1564/2143	1521/1755	507/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40819077	GCCGCCGC others(8): Show GCCGCCGCCGGAGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp1 HG03669.hp2 HG02970.hp1 HG03669.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0020 a0015c0017t0001g0020	2	426	0.0047	-15	c.144 others(24): Show c.1443_1457delAAGCTCCGGCGGCGG	p.Ser others(13): Show p.Ser482_Gly486del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1486/2143	1443/1755	481/584		chr17	TogoVar

Search by Variant

Search

Search Results (Total: 1873 hits)