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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KLRB1_chr12_9589551_9612916	9607326	T T	TTCTTTTC others(17): Show TTCTTTTCTTTCTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03704.hp1 HG02273.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	436	0.0046	24	c.85+ others(37): Show c.85+428_85+429insGAAGGAAGAAAGAGAAAGAAAAGA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607332	T T	TTTCCTTT others(17): Show TTTCCTTTCTTTCTTTCTGTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 HG02083.hp2 HG00621.hp2 HG02056.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0243 a0001c0001t0002g0033 a0001c0001t0002g0243	3	436	0.0069	24	c.85+ others(37): Show c.85+422_85+423insGAAAGACAGAAAGAAAGAAAGGAA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607332	T T	TTTCCTTT others(17): Show TTTCCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01934.hp1 others(20): Show HG00558.hp2 HG01099.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG04115.hp1 HG04184.hp2 NA18940.hp1 NA18943.hp1 NA18954.hp2 NA18959.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA19079.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 others(14): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0002c0002t0001g0018 a0002c0002t0001g0228 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0238	23	436	0.0528	24	c.85+ others(37): Show c.85+422_85+423insGAAAGAAAGAAAGAAAGAAAGGAA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607332	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0324	1	436	0.0023	24	c.85+ others(37): Show c.85+422_85+423insGAAAGAAAGAAAGAAAGAAAGAAA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG03490.hp1 HG03490.hp2 HG03492.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0106 a0002c0002t0001g0175 a0002c0002t0001g0024 a0002c0002t0001g0106 a0002c0002t0001g0175	4	436	0.0092	24	c.85+ others(37): Show c.85+419_85+420insAAAGGAAGGAAGGAAGGAAGGAAG		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00609.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0170 a0002c0002t0001g0171	2	436	0.0046	24	c.85+ others(37): Show c.85+419_85+420insAAAGAAAGGAAGGAAGGAAGGAAG		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	436	0.0023	24	c.85+ others(37): Show c.85+419_85+420insAAAGAAAGAAAGAAAGGAAGGAAG		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	436	0.0023	24	c.85+ others(37): Show c.85+419_85+420insAAAGAAAGAAAGGAAGAAAGAAAG		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607355	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	436	0.0023	24	c.85+ others(37): Show c.85+376_85+399dupAAAGAAAGAAAGAAAGAAAGAAAG		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607366	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0330	1	436	0.0023	24	c.85+ others(37): Show c.85+388_85+389insGAGAGAGAAAGAAAGAAAGAAAGA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607366	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	436	0.0023	24	c.85+ others(37): Show c.85+388_85+389insGAGAAAGAAAGAAAGAAAGAAAGA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTTCTTTT others(17): Show TTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19075.hp1 HG03654.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0072 a0002c0002t0001g0075	2	436	0.0046	24	c.85+ others(37): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRD1_chr12_10302870_10334608	10324818	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp2 NA20752.hp2 NA18995.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0222 a0001c0001t0250 a0001c0001t0222 a0001c0001t0250	a0001c0001t0222g0001 a0001c0001t0250g0004 a0001c0001t0222g0001 a0001c0001t0250g0004	2	428	0.0047	24	c.10 others(37): Show c.10027_*10050dupATATATATATATATATATATATAT		KLRD1	ENSG00000134539.17	transcript	ENST00000336164.9	protein_coding	6/6				10051	INFO_REALIGN_3_PRIME	chr12	TogoVar
KLRD1_chr12_10302870_10334608	10324818	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 NA18956.hp2 NA19005.hp2 HG02004.hp2 NA18956.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0139 a0001c0001t0038 a0001c0001t0139	a0001c0001t0038g0002 a0001c0001t0139g0057 a0001c0001t0038g0002 a0001c0001t0139g0057	3	428	0.0070	24	c.10 others(37): Show c.10026_*10027insGTATATATATATATATATATATAT		KLRD1	ENSG00000134539.17	transcript	ENST00000336164.9	protein_coding	6/6				10027	INFO_REALIGN_3_PRIME	chr12	TogoVar
KLRF1_chr12_9822481_9850005	9848804	T T	TTGATGTT others(17): Show TTGATGTTGATGCTATTCCTTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01884.hp2 HG01891.hp1 others(5): Show HG01257.hp2 HG01884.hp2 HG01891.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0070 a0001c0001t0002g0111 others(3): Show a0001c0001t0002g0020 a0001c0001t0002g0070 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114	8	388	0.0206	24	c.42 others(35): Show c.4278_*4279insTGATGTTGATGCTATTCCTTTCTG		KLRF1	ENSG00000150045.12	transcript	ENST00000617889.5	protein_coding					3800		chr12	TogoVar
KMO_chr1_241527378_241600642	241549202	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0305 a0001c0002t0019g0305	1	422	0.0024	24	c.124 others(39): Show c.124+307_124+308insGAAGGAAGGAAGAAAGAAAGAAAG		KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241549266	A A	AAAGAAAG others(17): Show AAAGAAAGTCGGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00609.hp1 others(37): Show HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01943.hp2 HG02109.hp1 HG02273.hp1 HG02486.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03831.hp2 HG03942.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18951.hp2 NA18957.hp1 NA18966.hp1 NA18981.hp2 NA18986.hp2 NA19002.hp1 NA19004.hp2 NA19043.hp1 NA19066.hp2 NA19072.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0006 a0002c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0053 a0001c0001t0068 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0001c0002t0025 a0001c0002t0036 a0001c0004t0007 a0001c0004t0026 a0001c0005t0040 a0002c0003t0003 a0002c0003t0004 a0002c0006t0004 a0002c0014t0023	a0001c0001t0001g0071 a0001c0001t0001g0190 a0001c0001t0001g0345 others(36): Show a0001c0001t0001g0071 a0001c0001t0001g0190 a0001c0001t0001g0345 a0001c0001t0004g0171 a0001c0001t0004g0217 a0001c0001t0004g0269 a0001c0001t0005g0244 a0001c0001t0006g0049 a0001c0001t0007g0340 a0001c0001t0009g0263 a0001c0001t0010g0035 a0001c0001t0010g0339 a0001c0001t0012g0348 a0001c0001t0013g0131 a0001c0001t0015g0264 a0001c0001t0017g0014 a0001c0001t0053g0184 a0001c0001t0068g0141 a0001c0002t0001g0252 a0001c0002t0001g0271 a0001c0002t0002g0011 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0337 a0001c0002t0003g0325 a0001c0002t0006g0110 a0001c0002t0010g0328 a0001c0002t0013g0026 a0001c0002t0013g0121 a0001c0002t0018g0174 a0001c0002t0025g0154 a0001c0002t0036g0284 a0001c0004t0007g0369 a0001c0004t0026g0361 a0001c0005t0040g0362 a0002c0003t0003g0162 a0002c0003t0004g0349 a0002c0006t0004g0205 a0002c0014t0023g0366	40	422	0.0948	24	c.124 others(39): Show c.124+371_124+372insAAAGTCGGAAAGAAAGAAAGGAAG		KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241549266	A A	AAAGTAAG others(17): Show AAAGTAAGTCGGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01981.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG01981.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008	a0001c0002t0001g0051 a0001c0002t0004g0034 a0001c0002t0008g0004 a0001c0002t0001g0051 a0001c0002t0004g0034 a0001c0002t0008g0004	4	422	0.0095	24	c.124 others(39): Show c.124+371_124+372insTAAGTCGGAAAGAAAGAAAGGAAG		KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18982.hp1 NA18985.hp1 others(3): Show HG03471.hp2 NA18982.hp1 NA18985.hp1 NA18994.hp1 NA19004.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0018 a0002c0002t0002g0055 a0002c0002t0002g0059 others(3): Show a0002c0002t0002g0018 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0073 a0002c0002t0002g0080 a0002c0011t0002g0054	6	172	0.0349	24	c.276 others(41): Show c.2769+609_2769+610insTATATATATATATATATATATATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp1 HG02109.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0029 a0002c0004t0002g0167 a0002c0004t0002g0029 a0002c0004t0002g0167	2	172	0.0116	24	c.276 others(41): Show c.2769+609_2769+610insTATATATATATATATATATACATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152253514	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0028 a0002c0004t0002g0028	1	172	0.0058	24	c.130 others(41): Show c.1300-823_1300-800dupTTTTTTTTTTTTTTTTTTTTTTTT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	9/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152255157	A A	ATATACAC others(17): Show ATATACACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0086 a0002c0005t0001g0086	1	172	0.0058	24	c.130 others(43): Show c.1300-2443_1300-2442insCATATATATATATATATGTGTATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	9/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152296997	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	172	0.0058	24	c.849 others(43): Show c.849+12945_849+12968dupCTTTCTTTCTTTCTTTCTTTCTTT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297047	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGACAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0006 a0004c0008t0003g0006	1	172	0.0058	24	c.849 others(43): Show c.849+12918_849+12919insGTCTGTCTTTCTTTCTTTCTTTCT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152384548	A A	ACACCACC others(17): Show ACACCACCACTACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	172	0.0058	24	c.162 others(43): Show c.162-25874_162-25873insGTGGTGGTGGTGGTAGTGGTGGTG		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	1/58						chr7	TogoVar
KMT2E_chr7_105009205_105120019	105050665	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18955.hp1 NA18965.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0017 a0001c0002 a0005c0017	a0001c0002t0003 a0005c0017t0003 a0001c0002t0003 a0005c0017t0003	a0001c0002t0003g0007 a0001c0002t0003g0012 a0005c0017t0003g0013 a0001c0002t0003g0007 a0001c0002t0003g0012 a0005c0017t0003g0013	3	304	0.0099	24	c.71+ others(39): Show c.71+9644_71+9667dupTTCTTTCTTTCTTTCTTTCTTTCT		KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
KNDC1_chr10_133155219_133231412	133205008	C C	CCACCACC others(17): Show CCACCACCCTCCTCACCCCCAGAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(180): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0016 a0017 a0024 a0025 a0026 a0029	a0001c0001 a0001c0004 a0002c0002 others(43): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0011 a0003c0015 a0003c0016 a0003c0032 a0003c0033 a0003c0034 a0003c0049 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0006c0010 a0006c0019 a0007c0009 a0007c0047 a0009c0013 a0010c0020 a0010c0025 a0011c0037 a0011c0051 a0011c0052 a0011c0053 a0012c0018 a0012c0045 a0013c0023 a0013c0060 a0016c0029 a0017c0057 a0024c0059 a0025c0062 a0026c0042 a0029c0069	a0001c0001t0002 a0001c0004t0007 a0002c0002t0001 others(61): Show a0001c0001t0002 a0001c0004t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0001 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0006t0011 a0002c0022t0002 a0002c0022t0003 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0011t0001 a0003c0015t0001 a0003c0015t0002 a0003c0015t0028 a0003c0016t0006 a0003c0032t0010 a0003c0033t0005 a0003c0034t0011 a0003c0049t0002 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001 a0009c0013t0002 a0010c0020t0002 a0010c0025t0002 a0011c0037t0027 a0011c0051t0002 a0011c0052t0001 a0011c0053t0001 a0012c0018t0001 a0012c0018t0006 a0012c0045t0006 a0013c0023t0004 a0013c0060t0002 a0016c0029t0002 a0016c0029t0021 a0017c0057t0002 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0029c0069t0002	a0001c0001t0002g0081 a0001c0004t0007g0144 a0002c0002t0001g0076 others(178): Show a0001c0001t0002g0081 a0001c0004t0007g0144 a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0239 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0009g0091 a0002c0002t0009g0112 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0006t0011g0312 a0002c0022t0002g0096 a0002c0022t0003g0291 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0001g0236 a0003c0015t0002g0237 a0003c0015t0002g0238 a0003c0015t0028g0109 a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 a0003c0032t0010g0308 a0003c0033t0005g0265 a0003c0034t0011g0313 a0003c0049t0002g0023 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0105 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0002 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 a0010c0025t0002g0243 a0011c0037t0027g0310 a0011c0051t0002g0024 a0011c0052t0001g0135 a0011c0053t0001g0316 a0012c0018t0001g0266 a0012c0018t0006g0267 a0012c0045t0006g0244 a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0060t0002g0086 a0016c0029t0002g0150 a0016c0029t0021g0151 a0017c0057t0002g0074 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0029c0069t0002g0170	183	332	0.5512	24	c.338 others(43): Show c.3388-1662_3388-1639dupCCCCCAGAATCACCACCCTCCTCA		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186714209	G G	GGAAAGAA others(17): Show GGAAAGAAGGAAAGAAACAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02976.hp2 HG02615.hp1 HG02647.hp2 HG02976.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0007 a0003c0013t0001 a0003c0013t0007	a0003c0013t0001g0209 a0003c0013t0001g0212 a0003c0013t0007g0210 a0003c0013t0001g0209 a0003c0013t0001g0212 a0003c0013t0007g0210	3	430	0.0070	24	c.-33 others(35): Show c.-3334_-3333insGAAAGAAGGAAAGAAACAAAGAAA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding					3149		chr3	TogoVar
KNG1_chr3_186712359_186749410	186714218	C C	CAAAGAAA others(17): Show CAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02155.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG02155.hp2 HG02647.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0002c0002t0001 a0003c0007t0003 a0001c0001t0001 a0002c0002t0001 a0003c0007t0003	a0001c0001t0001g0016 a0002c0002t0001g0001 a0002c0002t0001g0232 others(1): Show a0001c0001t0001g0016 a0002c0002t0001g0001 a0002c0002t0001g0232 a0003c0007t0003g0156	5	430	0.0116	24	c.-33 others(35): Show c.-3325_-3324insAAAGAAAGAAAGAAAGAAAGAAAG		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding					3140		chr3	TogoVar
KNG1_chr3_186712359_186749410	186714218	C C	CAAGGAAA others(17): Show CAAGGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0057 a0001c0004t0004g0057	1	430	0.0023	24	c.-33 others(35): Show c.-3325_-3324insAAGGAAAGAAAGAAAGAAAGAAAG		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding					3140		chr3	TogoVar
KNG1_chr3_186712359_186749410	186718327	C C	CACCCACC others(17): Show CACCCACCACCATCACCCACCACCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0093 a0002c0011t0001g0093	1	430	0.0023	24	c.195 others(39): Show c.195+593_195+594insCACCACCATCACCCACCACCTACC		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0278 a0002c0003t0001g0278	1	320	0.0031	24	c.446 others(39): Show c.446-760_446-759insGCCTGCCTGCCTGCCTTCCTTCCT		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0020 a0020	a0020c0037 a0020c0037	a0020c0037t0001 a0020c0037t0001	a0020c0037t0001g0292 a0020c0037t0001g0292	1	320	0.0031	24	c.446 others(39): Show c.446-760_446-759insGCCTGCCTGCCTTCCTTCCTTCCT		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTTCCT others(17): Show GCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 homoSapiens_chm13v2.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0097 a0001c0002t0001g0106	2	320	0.0063	24	c.446 others(39): Show c.446-748_446-725dupTTCCTTCCTTCCTTCCTTCCTTCC		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122430515	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01496.hp1 others(10): Show HG00621.hp1 HG01099.hp2 HG01496.hp1 HG01891.hp2 HG02148.hp1 HG02148.hp2 NA18944.hp1 NA18954.hp2 NA18957.hp1 NA18988.hp1 NA19001.hp2 NA19002.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0001t0024	a0001c0001t0002g0012 a0001c0001t0002g0188 a0001c0001t0002g0229 others(8): Show a0001c0001t0002g0012 a0001c0001t0002g0188 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0006g0235 a0001c0001t0023g0189 a0001c0001t0024g0010	13	400	0.0325	24	c.125 others(43): Show c.1251-2823_1251-2800dupACACACACACACACACACACACAC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	12/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01074.hp1 others(33): Show HG00544.hp1 HG00558.hp2 HG01074.hp1 HG01433.hp1 HG02027.hp1 HG02071.hp2 HG02165.hp1 HG02486.hp2 HG02723.hp2 HG02970.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA19001.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0002t0003	a0001c0001t0003g0296 a0001c0001t0003g0300 a0001c0001t0003g0304 others(33): Show a0001c0001t0003g0296 a0001c0001t0003g0300 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0003g0331 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0347 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0357 a0001c0001t0003g0361 a0001c0001t0003g0368 a0001c0001t0009g0314 a0001c0001t0009g0344 a0001c0001t0009g0348 a0001c0001t0009g0350 a0001c0001t0009g0363 a0001c0001t0013g0312 a0001c0001t0013g0362 a0001c0002t0003g0301 a0001c0002t0003g0328	36	400	0.0900	24	c.565 others(39): Show c.565-501_565-500insTTCCTTCCTTCCCTCCTTCCCTCC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13						chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0360 a0001c0001t0003g0360	1	400	0.0025	24	c.565 others(39): Show c.565-501_565-500insTTCCTTCCTTCCCTCCCTCCCTCC		KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13						chr3	TogoVar
KPNA5_chr6_116676211_116746867	116726061	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02132.hp1 HG06807.hp1 others(10): Show HG00544.hp1 HG02132.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp2 NA18961.hp2 NA18964.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA19000.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0314 a0001c0001t0004g0315 others(9): Show a0001c0001t0004g0014 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0327	13	344	0.0378	24	c.112 others(41): Show c.1125+207_1125+208insGTGTGTGTGTGTGTGTGTGTGTGT		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA5_chr6_116676211_116746867	116732074	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	344	0.0029	24	c.143 others(39): Show c.1433-61_1433-60insTTATATATATATATATATATATAT		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA6_chr1_32103056_32181563	32118997	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	244	0.0041	24	c.4+1 others(39): Show c.4+10876_4+10899dupATATATATATATATATATATATAT		KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA7_chr7_99168572_99213115	99180742	C C	CGTGTCTC others(17): Show CGTGTCTCTCTCTCTCTCCCCGTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG02559.hp1 others(3): Show HG00741.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02818.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0018 a0001c0001 a0001c0010 a0001c0018	a0001c0001t0001 a0001c0010t0001 a0001c0018t0001 a0001c0001t0001 a0001c0010t0001 a0001c0018t0001	a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 others(3): Show a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0010t0001g0229 a0001c0018t0001g0286	6	334	0.0180	24	c.131 others(43): Show c.1317+1117_1317+1140dupAGACGGGGAGAGAGAGAGAGACAC		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPNA7_chr7_99168572_99213115	99180817	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCCCCGTCTGTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0269 a0002c0007t0001g0269	1	334	0.0030	24	c.131 others(43): Show c.1317+1065_1317+1066insGACAGACGGGGAGAGAGAGAGAGA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPTN_chr19_47470150_47489219	47488887	A A	AGCCTGGG others(17): Show AGCCTGGGCGACAGAGCGAGACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	378	0.0027	24	c.-47 others(35): Show c.-4751_-4728dupGGAGTCTCGCTCTGTCGCCCAGGC		KPTN	ENSG00000118162.14	transcript	ENST00000338134.8	protein_coding					4669		chr19	TogoVar
KRBA1_chr7_149709951_149739575	149735383	T T	TGACTGGC others(17): Show TGACTGGCAGGGCCAGCCTGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG06807.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0004 a0001c0001t0001g0033	3	414	0.0073	24	c.13 others(35): Show c.1336_*1337insGACTGGCAGGGCCAGCCTGGTGTG		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding					809		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0091 a0001c0001t0126g0091	1	388	0.0026	24	c.-21 others(39): Show c.-21+939_-21+962dupTTTTTTTTTTTTTTTTTTTTTTTT		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1						chr17	TogoVar
KREMEN1_chr22_29068035_29151820	29105478	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0128 a0001c0001t0015g0128	1	368	0.0027	24	c.352 others(41): Show c.352+6536_352+6559dupACACACACACACACACACACACAC		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02015.hp1 others(15): Show HG00423.hp2 HG00621.hp2 HG02015.hp1 HG02293.hp2 NA18949.hp2 NA18951.hp2 NA18963.hp2 NA18971.hp2 NA18979.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19079.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0016 a0001c0008t0001 a0001c0001t0001 a0001c0001t0016 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0016g0059 a0001c0008t0001g0016	18	406	0.0443	24	c.-45 others(35): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTTTTTTT		KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding					4538		chr19	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(17): Show TCTATCTAGCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01993.hp2 HG01978.hp1 HG01993.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	2	426	0.0047	24	c.29 others(35): Show c.2913_*2914insCTAGCTAGCTAGCTAGCTAGATAG		KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding					2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(17): Show TCTATCTATCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01261.hp2 others(5): Show HG01123.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01517.hp2 HG02257.hp1 HG02602.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	8	426	0.0188	24	c.29 others(35): Show c.2913_*2914insCTAGCTAGCTAGCTAGATAGATAG		KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding					2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818942	A A	ACCGTAGC others(17): Show ACCGTAGCCGCCGCTGGAACTGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02965.hp1 HG02965.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0037 a0023c0028t0001g0037	1	426	0.0024	24	c.156 others(33): Show c.1569_1592dupCGGCAGTTCCAGCGGCGGCTACGG	p.Gly others(37): Show p.Gly531_Gly532insGlySerSerSerGlyGlyTyrGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1621/2143	1592/1755	531/584			chr17	TogoVar

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