Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
KLHL24_chr3_183630623_183689519	183635795	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 others(6): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0003t0007 a0001c0003t0009 a0001c0003t0040 a0001c0003t0042	a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0046 others(21): Show a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0046 a0001c0001t0021g0008 a0001c0001t0035g0044 a0001c0001t0039g0028 a0001c0001t0041g0047 a0001c0003t0007g0006 a0001c0003t0007g0007 a0001c0003t0007g0030 a0001c0003t0007g0032 a0001c0003t0007g0033 a0001c0003t0007g0035 a0001c0003t0007g0036 a0001c0003t0007g0037 a0001c0003t0007g0038 a0001c0003t0007g0042 a0001c0003t0009g0007 a0001c0003t0009g0029 a0001c0003t0009g0031 a0001c0003t0009g0039 a0001c0003t0009g0041 a0001c0003t0040g0034 a0001c0003t0042g0040	26	310	0.0839	0	c.-12 others(6): Show c.-125+2T>C		KLHL24	ENSG00000114796.16	transcript	ENST00000242810.11	protein_coding	1/7						chr3	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0150 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0007t0001g0072 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0006g0152	250	446	0.5605	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5						chr19	TogoVar
KLK14_chr19_51072897_51087887	51082721	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	0	c.-23 others(5): Show c.-23+1G>A		KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	1/5						chr19	TogoVar
KLK15_chr19_50820289_50838574	50827242	TGGGCAAC others(3387): Show TGGGCAACCCGAGGTCTCCCGACCCTTTAGAAATCTCGACATCCCATTAC CTTTTCCCAAGACCCTGAAGCCAATGGTTCCAGCCCCTGCTCCTCAAGGA CCAACGAGTCTGAAGTCAGGCACACTCCTAGAACTCGATCCCCTCCAACT ACTCCCAGCCCCCTCCTGGTCTGTCCCCGAATCCAGGATTCTCACATCCC TAGAACTGAGGCTCAAAAGCTGGAACTAGTCTTCTCCTTCCTCCTTCAGA GATCGAAGGCTTTGAAACACACACTCCTTCCTAACCCAGGGGCTTGACAT CCGGCCTCCTCGTCTTTCAGAACCCAGGAGTTCTGGCGTCTGCCTCCGTC TTCCCCCAAATCTAGGAGCTCTTCCCCCCGAACCAGGCTCCCTCAGGACC CTGAGCCCCTGCCTTCATACCGGCTTTGGCAGTGGGCCGCAGACAGCACC CAGTGTGGGGAGATGAGGGAAGCGCCACAGTTAAAGCGTCCACGCTCGTA GAGAGCCACTTGCCATGGCTGGGAGTGGGGTGCACACTCGTCACCTTCCA GCAACTTGTCACCATCCTGGGCTGCTAAGAGAAGGGGTAGAGGATGCCTG AGGACAGGGACGTTTACATTGCCTCCTACACCTTCCTTGCACCCTGCCCT AACTACTATATGCCTATGCCTTTCCCCTAACTTCTCAAGACACCCTGCCC TGTTTTTGTTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTCTTTT GCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTCCGCC TCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGAGGTG CCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTCT CACCATGTTAGCCAGGGTAGTCTCAAACTTCTGACTTCAAATGCTCTGCC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTC CGCCTGCCCTGTTGTTTATTTACAACCGCTGCCTGTTTTCTCCAGAACTC TAGCCCCCACCCCATTTGCTATAAGACTCTGGGAGAGAGAGGAAGGGGAA CAGACCAGAGGGCAAGAAGTCCTCTGTGGTTGGGGGTGGAGACAGGGGCA CTGGATACAGGTTCAGACAGGTGGTCACTTGAAACCAGTCATTCACGGTC ACCAAATTGTCACAGACGTCAAACGCATGTGGCCACTCAGTATGTGTGAC CCAGCCTTGGCCCCAGAGTCTGGACATGTCAGCCAAATTCAGTGTGCAGT ATGAGTCCCAGATGTGGCTATACAAGGTCATGGACATGCATACATGCACA TCCAGCTTCCACACTTAGGTACAGCTATGGACAGGACTGGAAGCTGAAAT TCACTTGCATGCACATGGGTTGCAGCTTCAAGAATCACAGCACAGGCTGG GCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGGGAA ACCCTGTCTCTAACAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGT GCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAAAATCGCTTGAAC CCGGGAGGCGGAGATTGCAGTGAGCGGAGGTTGCTCCATTGCACTCCAGC CTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAAGAATCACAGCACAGATGTTCATATGTGTATATGAATATGGATGGTTA AGACATGAATACATACACACACACACATGCACACACAAACACACACACAG AATTGGATATTGTTCAGACCTAAATTCAACATCTCTAGTGTGAGTCTTGG CATCCAGTGTCACAGACACTTGCATACAGGGTCTGGACAAAGATGGGTCC TTAAGCCTGGGTTCGAATGTACTAGCTGTGAAACTTTGAGTAAGTTATTC GACCTGTCTGTGCCTCTGTTTCCTCATCTGTAAAATGAAGATTGTTGTAA GGATGAGGTAGGAATGTGTATGTGTGTGTGTGCATGTGTGTATGTATGGT GAGTGATACCTAGCCCTGGTAGCTACTTAATAATATTAGTTGTTTTTTGC AAATGACACCTGGATTTAGTCACAGGGACATACGTGTGAAAGTTCAGGTC CATCCTGGAGATGGCCAACATAAGTCAGACATCTGCACAGAATTACCTAT AATAAATAGTCAAGGTTGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAG TTTGAGACCAGCCTGGCCAACATCGTGAAATCCCGTCTCTACTAAAAAAT AAATAAATAAATAAATAAAAATACAAAAATCAGCTGGGCGTGGTGGTGCG TGCCTGTAATTCTAGCTACTCGGGAGGCAGAGACAGAATTGCTTGAACCT GGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGCACCACTGAACTCCAGCTT GGGCGGCAGAGCGAGACTCCGTCTCAAAAAAAACCAAACAAACAAAAAAA AGTCAAGGTTAAAACCGTGATTCACCCACAAGACATTTTGTAGAGTTAGA GCTGCAGACACCAACCCAGAAGGCCAACACTCAGATGTGGACTTGCTGTC TGGGGCAGCACCCAGACACGGGGCTGGGCATTCAAGGTCAAAGACATGCA GCTGAAGCCAGAGGCAGCCAGGGCAGGACATATTTATCCATCTCTAGATC AGCCCCCAAGCCAGATCTGTGGAGTCACTGATTGGGTTTCACATATGGGG ATCTGGCTCATGCATGTGGAGAGGATGTGAACATACAGGGCCTTGTATAC CCACTGCACACGTGCATGTACACACACACACACACACACACACACAGAAT GGCATTATGCTTAAGGACATGATTAGAGACATTCAAGGTCACAGGACCAG GACCCCTCTCCACTGGGCAATGTGGATGCATCCCCTGAAGGTTGAAGCCA TGCACACTCCCACCCACACAGGGGCAGGATTTGCACAGCCAGACCAAATG CCCACACTCTCCCCATCACAGTCAGGAACTGGGCCAAAGGCCCCCGTGAG ACCAGGGGAATGCGGATGTGGTGGACAAGGGGCTTAACAAAGGAAGGGTG AGGTCGTCCTCCGAAGGGCGGAGGGTACGGGCTGAACAGCTGGGCACCGA GGCTGCACCTGGCCAGTCCAAGCCAGAGGAAGGTGGAGGCCCCAGCTGGG CGCAGCAGGCAGGCGCGAGGCAGGTAGGTGAGTGCACAGAGAGAGCCGGA GGGGAGGCTGGAGGCGTGGGGGTCTCAGGGGCCCCCAGGAGTGAG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01099.hp2 HG03225.hp2 HG01099.hp2 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0070 a0005c0006t0001g0118 a0005c0006t0001g0070 a0005c0006t0001g0118	2	440	0.0045	-3394	c.43+ others(13): Show c.43+814_198-82del		KLK15	ENSG00000174562.14	transcript	ENST00000598239.6	protein_coding	3/6						chr19	TogoVar
KLRC3_chr12_10407315_10425595	10416666	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02451.hp1 HG02572.hp2 HG02615.hp1 others(7): Show HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0049	10	446	0.0224	0	c.587 others(5): Show c.587+1G>T		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding	5/6						chr12	TogoVar
KNOP1_chr16_19696937_19723227	19718157	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	370	0.0027	0	c.-3+ others(4): Show c.-3+1G>C		KNOP1	ENSG00000103550.14	transcript	ENST00000219837.12	protein_coding	1/4						chr16	TogoVar
KRBA1_chr7_149709951_149739575	149720179	CCCCAGGC others(968): Show CCCCAGGCAATGCGTGACCTCAGCCTACTCAGTCCAGCCTCTCACCTCCC TGCCTCCCCTACTGCAACCTCCCAAGCTTTCACCCCTCATCCCTCTGGGC TGGAAGCCTGTTATGCAGAGAAGCACTCAGAGAAAGCCTGGGGTCACCCT GGAGAGTACCTCCTGCCTCAGGCCCCCCACCCACCACCACCCTGAAGCCT TATCACAGCCACCCCTGCAGAACCTGCTCCAGCTCCCAAAAGTCCTGCCA CGAGGCTTACATCCCAAGACCTCAGATGGTGGATGTGCTCCACCGGCCCA GACTGGGCAAGGCCAGGCATTTAGGGGGTGCCAGGAAAGGCAGAGGGCCC AGATGGTGGAAGAAGTGTAGCGGCAGCCCGCCTGGGCATTCCCCTGGGAG GCATGGAGATTAATGAGTAACGTAGAACAGAGGAGCCCTGTTACCCAGGC CCCGCCCCCATGCCCTGGCTGTCCCTTGGCCAGAGCGCCTGGCCTGAGCC CAGGTCCTCTATATCTCATGGGACATGGTGTCTCCTCTGGCTGCTCCTCA TGTGGCTGGGAGGATTACGTGAGATGCTGGGTGTGAAAACACGCACGTAG GTGTGAGTGCTGAGCAGCCGCAGGGGTGCGGGGGGGTCACTGTGGCCTCT CTGCAGGGGGACAGCCCCGGCACAGCCTGCACCTCACAGCCCTGGTGCAG CTGGTGAAGGAGATCCCAGAGTTCTTGTTTGGAGAAGTCAAGGGCGCTAT GGACAGCCCCGAGAGCGAGAGCCGGGGAGCCAGCCTGGATGGAGAGAGAG CGAGCCCCGAGGGTAAGTCAGACAGTGGGGCAGTGCACGCAGCCTCCTCT GCACTCCGCATGATGAAGCACAAGTCCACGGCACTGCACTGCATGTGGGC TTGCAGGCACAGGCCGGGAGGCAGAGTCACCTGCTGTTCCTCGTGGCTAG GCCGTGTGCCGCCCTCTGAGCACATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19077.hp1 NA19077.hp1	a0026 a0026	a0026c0017 a0026c0017	a0026c0017t0001 a0026c0017t0001	a0026c0017t0001g0160 a0026c0017t0001g0160	1	412	0.0024	-975	c.259 others(14): Show c.259+57_415+168del		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT26_chr17_40761238_40777201	40771671	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	412	0.0024	0	c.441 others(5): Show c.441+2T>C		KRT26	ENSG00000186393.6	transcript	ENST00000335552.5	protein_coding	1/7						chr17	TogoVar
KRT31_chr17_41388721_41402608	41394847	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	452	0.0022	0	c.109 others(6): Show c.1097+1G>A		KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding	6/6						chr17	TogoVar
KRT3_chr12_52784685_52801117	52790835	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp1 HG00642.hp1 HG00733.hp2 others(11): Show HG00323.hp1 HG00642.hp1 HG00733.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG04184.hp1 HG04204.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0005c0007 a0002c0002 a0003c0005 a0005c0007	a0002c0002t0001 a0003c0005t0001 a0005c0007t0001 a0002c0002t0001 a0003c0005t0001 a0005c0007t0001	a0002c0002t0001g0006 a0002c0002t0001g0042 a0003c0005t0001g0068 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0042 a0003c0005t0001g0068 a0005c0007t0001g0059	14	452	0.0310	1	c.157 others(7): Show c.1570+2dupT		KRT3	ENSG00000186442.7	transcript	ENST00000417996.2	protein_coding	8/8						chr12	TogoVar
KRT73_chr12_52602570_52623559	52610614	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	422	0.0024	0	c.133 others(6): Show c.1331+1G>A		KRT73	ENSG00000186049.8	transcript	ENST00000305748.7	protein_coding	7/8						chr12	TogoVar
LAMA5_chr20_62304065_62372312	62312886	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02897.hp2 HG02897.hp2	a0075 a0075	a0075c0127 a0075c0127	a0075c0127t0001 a0075c0127t0001	a0075c0127t0001g0024 a0075c0127t0001g0024	1	184	0.0054	0	c.907 others(6): Show c.9078+2T>G		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	66/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62312887	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02897.hp2 HG02897.hp2	a0075 a0075	a0075c0127 a0075c0127	a0075c0127t0001 a0075c0127t0001	a0075c0127t0001g0024 a0075c0127t0001g0024	1	184	0.0054	0	c.907 others(6): Show c.9078+1G>T		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	66/79						chr20	TogoVar
LAMB4_chr7_108018553_108135361	108123130	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0156 a0007c0011t0002g0157 a0007c0011t0002g0156 a0007c0011t0002g0157	2	290	0.0069	0	c.34+ others(4): Show c.34+1G>A		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	2/33						chr7	TogoVar
LARP1B_chr4_128056312_128216988	128199601	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	334	0.0030	0	c.216 others(6): Show c.2164+2T>C		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	16/19						chr4	TogoVar
LARS2_chr3_45383576_45554407	45399787	CCCTTTCC others(946): Show CCCTTTCCACCCTTCCCCCAAAGTCCCCAAAGTCCATTGTATCATTCTTA TGCCTCATAGCTTAGCTCCCACATATCAGTGAGAACATAAGATGTTTGGT TTTCCATTCCTGAGTTACTTCATTTAGAATAATAGTCTCCAATCTCACCC AGGTCACTGCAAATACTGTTAATTCATTCCTTTCAAAAAATAAGTTTTTA AAAGAGAAAAAAAAAAGATATATGGGTACTTAACACTTAGAGGTTGTTTG GCATTATTTTGGACATTCTTTAGCTTAAACCAGGGCTTTGAATTTTGCTT TTTGACATTTTAATTGATTTACATTCTGGGAACACTCTTTTTAAAAGGAA ACTTTTAAAATGTTAAATTATTACTTTGTGTAAAATGCCAAAATATTATG TATACATGCAGAGTTCCCAGAAAATGCTTAATAAATACTCATTGTCGTTC TTTCCTAGAAATCGAAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTAT CCTTCTGGTAAGCTGCACATGGGCCATGTGCGTGTCTACACCATCAGCGA CACCATAGCACGGTTCCAGAAGATGAGAGGGATGCAGGTAAGAACAGGTG CCTGCTGGAGCAGCCCTTGTCTGCCACACGCAGGGTTGGCATGTAGTAAT ATGTGTTCAAGACAAATGAAGAAAACCAACTTTAGTTAAGATTAGGACAG CTTTGAAGATGGACATGAAAAGCTCAGTGTTTCCTTTTATGGATTAGATG ATATTATAATAAAGCATCTAGGTTAATTGGGGGGCAGCCATGAGTTGGGT GTTGTGCTGGGGTGGAGATCAGATGGGAATGGGGTGAAAGGTAGATACAA ATGTGGATAACACTGATAATCTTCCCAGGAGATACTCACCCATGAGTAGA GAATCATTGTATATAACGAACTGAGGTCAACAGTACAAATACACATCAGT GCTA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0135 a0006c0023t0001g0135	1	240	0.0042	-953	c.235 others(15): Show c.235-457_363+367del		LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/22						chr3	TogoVar
LBHD2_chr14_103079210_103095027	103086083	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0079 a0002c0002t0006g0079	1	430	0.0023	0	c.69+ others(4): Show c.69+2T>A		LBHD2	ENSG00000283071.1	transcript	ENST00000634353.1	protein_coding	2/3						chr14	TogoVar
LCE2B_chr1_152681123_152692397	152686157	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18957.hp1 NA18974.hp1 NA18987.hp2 others(1): Show NA18957.hp1 NA18974.hp1 NA18987.hp2 NA19063.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0001 a0001c0001t0001 a0009c0011t0001	a0001c0001t0001g0007 a0009c0011t0001g0007 a0001c0001t0001g0007 a0009c0011t0001g0007	4	444	0.0090	0	c.-21 others(5): Show c.-21+1G>C		LCE2B	ENSG00000159455.9	transcript	ENST00000368780.4	protein_coding	1/1						chr1	TogoVar
LCE6A_chr1_152837856_152848983	152843013	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00741.hp1 HG02300.hp1 HG02559.hp2 HG00741.hp1 HG02300.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	398	0.0075	0	c.-22 others(5): Show c.-22+2T>C		LCE6A	ENSG00000235942.3	transcript	ENST00000431011.3	protein_coding	1/1						chr1	TogoVar
LCN10_chr9_136733170_136747940	136739948	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	390	0.0026	0	c.574 others(5): Show c.574+2T>A		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding	5/5						chr9	TogoVar
LCN10_chr9_136733170_136747940	136740835	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02129.hp2 NA18612.hp1 NA18947.hp2 others(1): Show HG02129.hp2 NA18612.hp1 NA18947.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	4	390	0.0103	0	c.475 others(5): Show c.475+1G>A		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding	4/5						chr9	TogoVar
LDAF1_chr16_21153674_21185616	21158748	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	388	0.0026	0	c.-99 others(5): Show c.-99+2T>C		LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	1/4						chr16	TogoVar
LIAS_chr4_39454056_39484506	39467647	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	422	0.0024	0	c.737 others(5): Show c.737+1G>A		LIAS	ENSG00000121897.15	transcript	ENST00000640888.2	protein_coding	7/10						chr4	TogoVar
LILRB4_chr19_54657985_54673718	54667792	AG AG	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show HG00280.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0022 a0032 a0034 others(9): Show a0022 a0032 a0034 a0036 a0039 a0044 a0045 a0046 a0051 a0056 a0057 a0064	a0022c0025 a0032c0062 a0032c0064 others(11): Show a0022c0025 a0032c0062 a0032c0064 a0034c0038 a0036c0072 a0036c0081 a0039c0044 a0044c0077 a0045c0073 a0046c0070 a0051c0067 a0056c0055 a0057c0057 a0064c0052	a0022c0025t0001 a0032c0062t0005 a0032c0064t0001 others(11): Show a0022c0025t0001 a0032c0062t0005 a0032c0064t0001 a0034c0038t0001 a0036c0072t0001 a0036c0081t0001 a0039c0044t0001 a0044c0077t0001 a0045c0073t0001 a0046c0070t0001 a0051c0067t0001 a0056c0055t0001 a0057c0057t0001 a0064c0052t0001	a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 a0032c0064t0001g0206 a0034c0038t0001g0046 a0036c0072t0001g0079 a0036c0081t0001g0169 a0039c0044t0001g0086 a0039c0044t0001g0087 a0044c0077t0001g0239 a0045c0073t0001g0222 a0046c0070t0001g0171 a0051c0067t0001g0270 a0056c0055t0001g0114 a0057c0057t0001g0092 a0064c0052t0001g0156	21	486	0.0432	-1	c.120 others(7): Show c.1200+1delG		LILRB4	ENSG00000186818.13	transcript	ENST00000695418.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
LILRB4_chr19_54657985_54673718	54667795	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show HG00280.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0022 a0032 a0034 others(9): Show a0022 a0032 a0034 a0036 a0039 a0044 a0045 a0046 a0051 a0056 a0057 a0064	a0022c0025 a0032c0062 a0032c0064 others(11): Show a0022c0025 a0032c0062 a0032c0064 a0034c0038 a0036c0072 a0036c0081 a0039c0044 a0044c0077 a0045c0073 a0046c0070 a0051c0067 a0056c0055 a0057c0057 a0064c0052	a0022c0025t0001 a0032c0062t0005 a0032c0064t0001 others(11): Show a0022c0025t0001 a0032c0062t0005 a0032c0064t0001 a0034c0038t0001 a0036c0072t0001 a0036c0081t0001 a0039c0044t0001 a0044c0077t0001 a0045c0073t0001 a0046c0070t0001 a0051c0067t0001 a0056c0055t0001 a0057c0057t0001 a0064c0052t0001	a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 a0032c0064t0001g0206 a0034c0038t0001g0046 a0036c0072t0001g0079 a0036c0081t0001g0169 a0039c0044t0001g0086 a0039c0044t0001g0087 a0044c0077t0001g0239 a0045c0073t0001g0222 a0046c0070t0001g0171 a0051c0067t0001g0270 a0056c0055t0001g0114 a0057c0057t0001g0092 a0064c0052t0001g0156	21	486	0.0432	0	c.120 others(6): Show c.1200+2T>A		LILRB4	ENSG00000186818.13	transcript	ENST00000695418.1	protein_coding	11/11						chr19	TogoVar
LIPE_chr19_42396514_42432388	42426266	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	226	0.0044	0	c.883 others(5): Show c.883+1G>A		LIPE	ENSG00000079435.10	transcript	ENST00000244289.9	protein_coding	1/9						chr19	TogoVar
LMAN2_chr5_177326567_177356668	177351450	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0040 a0004c0003t0001g0040	1	374	0.0027	0	c.196 others(5): Show c.196+2T>G		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	1/7						chr5	TogoVar
LMAN2_chr5_177326567_177356668	177351451	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0040 a0004c0003t0001g0040	1	374	0.0027	0	c.196 others(5): Show c.196+1G>T		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	1/7						chr5	TogoVar
LMTK3_chr19_48480271_48516835	48497366	CCTGACTG others(18): Show CCTGACTGTGCCCCGCAGCCTCCTCA	C C	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0079 a0008c0025t0001g0079	1	312	0.0032	-25	c.367 others(39): Show c.3676+2_3676+26delTGAGGAGGCTGCGGGGCACAGTCAG		LMTK3	ENSG00000142235.13	transcript	ENST00000600059.6	protein_coding	11/14						chr19	TogoVar
LPCAT3_chr12_6971185_7023476	6977132	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02258.hp1 HG02965.hp1 HG03486.hp1 others(16): Show HG02258.hp1 HG02965.hp1 HG03486.hp1 NA18522.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18981.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19059.hp1 NA19072.hp2 NA19078.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0002 a0002c0004t0002g0008 a0002c0004t0002g0036 others(10): Show a0002c0004t0002g0002 a0002c0004t0002g0008 a0002c0004t0002g0036 a0002c0004t0002g0076 a0002c0004t0002g0197 a0002c0004t0002g0198 a0002c0004t0002g0199 a0002c0004t0002g0200 a0002c0004t0002g0201 a0002c0004t0002g0202 a0002c0004t0002g0204 a0002c0004t0002g0214 a0002c0004t0002g0215	19	280	0.0679	-1	c.12 others(6): Show c.12+1delG		LPCAT3	ENSG00000111684.11	transcript	ENST00000261407.9	protein_coding	12/12						chr12	TogoVar
LRP11_chr6_149813757_149869359	149837337	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	332	0.0030	0	c.103 others(6): Show c.1039+1G>A		LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	4/6						chr6	TogoVar
LRRC69_chr8_91097619_91224257	91200794	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp1 HG01934.hp2 HG00733.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0190 a0001c0001t0001g0192	2	316	0.0063	0	c.933 others(5): Show c.933+2T>A		LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	7/7						chr8	TogoVar
LRRC9_chr14_59915144_60071817	59982061	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00099.hp1 HG00280.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0006 a0005c0011t0003 a0005c0011t0006	a0005c0011t0003g0211 a0005c0011t0006g0212 a0005c0011t0003g0211 a0005c0011t0006g0212	2	320	0.0063	0	c.209 others(6): Show c.2091+1G>A		LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	16/32						chr14	TogoVar
LRRIQ3_chr1_74021015_74203176	74183435	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0261 a0002c0009t0008g0262 a0002c0009t0008g0261 a0002c0009t0008g0262	2	272	0.0074	0	c.249 others(5): Show c.249+1G>A		LRRIQ3	ENSG00000162620.16	transcript	ENST00000354431.9	protein_coding	2/7						chr1	TogoVar
LRSAM1_chr9_127446510_127508499	127452034	GGGTGCAC others(396): Show GGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCA GGTCAGCCACTGCCCACCCCACCCCAGGAAATATGGGTGTGGCCCTCCCC CCGCATCTAGGCTGGACGTCGGAGAGGGAGGGACAGGCATGTGGGGCAGC CTGGAAAGAACTGATCTTCGGGGAGGGGTGGGAGAGCGATGGTGGTTGGG AGGAAGTGGGGAGGGCTGCACATCAGGAAGGGGGTGCAAGAGGGTTAGTG ATTGGGGAGCAGAAGGGTAAGTGCTGGTCATCAGGGACGGATGGGGGAGG GCTGTTTTCAAACCATTCCCCATCCTTGCAGGCAGGTGGGGTGACAAGAG GGCCTGAACTGGCTCTGCAGGCCTGGCTGCCTCCCCAGACAGCCCCGCCC CCGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0013 a0004c0006t0004g0013	1	338	0.0030	-403	c.-80 others(11): Show c.-80_-33+355del		LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	2/26				2089	INFO_REALIGN_3_PRIME	chr9	TogoVar
LRWD1_chr7_102459984_102478168	102466052	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0002 a0013c0029t0002	a0013c0029t0002g0092 a0013c0029t0002g0092	1	426	0.0023	0	c.315 others(5): Show c.315+1G>A		LRWD1	ENSG00000161036.13	transcript	ENST00000292616.10	protein_coding	2/14						chr7	TogoVar
LRWD1_chr7_102459984_102478168	102466053	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0002 a0013c0029t0002	a0013c0029t0002g0092 a0013c0029t0002g0092	1	426	0.0023	0	c.315 others(5): Show c.315+2T>C		LRWD1	ENSG00000161036.13	transcript	ENST00000292616.10	protein_coding	2/14						chr7	TogoVar
LTN1_chr21_28923144_28997877	28970534	AAAATTTA others(11): Show AAAATTTAAATTACTTACC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0106 a0017c0016t0001g0106	1	402	0.0025	-18	c.117 others(30): Show c.1175_1175+17delGGTAAGTAATTTAAATTT	p.Leu others(5): Show p.Leu393fs	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding	8/30		1175/5301	392/1766			chr21	TogoVar
LYG2_chr2_99237246_99260666	99245261	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	424	0.0024	0	c.381 others(5): Show c.381+1G>C		LYG2	ENSG00000185674.10	transcript	ENST00000333017.7	protein_coding	5/6						chr2	TogoVar
MAGEA10_chrX_152128310_152143577	152136870	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	280	0.0036	0	c.-14 others(6): Show c.-140+1G>T		MAGEA10	ENSG00000124260.12	transcript	ENST00000370323.9	protein_coding	2/3						chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	C C	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	3	336	0.0089	-432	c.-25 others(17): Show c.-253-100_-163-104del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5						chrX	TogoVar
MAMDC4_chr9_136847346_136865799	136855611	AGGCCTGT others(22): Show AGGCCTGTGGTAAAGGGGCTCAACCTCCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18978.hp1 NA18978.hp1	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0001 a0028c0027t0001	a0028c0027t0001g0020 a0028c0027t0001g0020	1	348	0.0029	-29	c.146 others(41): Show c.1464_1471+21delGGCCTGTGGTAAAGGGGCTCAACCTCCTG	p.Ala others(5): Show p.Ala489fs	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	12/27	1535/3681	1464/3414	488/1137			chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136855620	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG03654.hp2 HG03927.hp1 HG01123.hp2 HG03654.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	3	348	0.0086	0	c.147 others(6): Show c.1471+1G>A		MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	12/26						chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136857587	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19004.hp1 NA19054.hp2 NA19004.hp1 NA19054.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	348	0.0057	0	c.232 others(6): Show c.2326+1G>A		MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	18/26						chr9	TogoVar
MAN2B1_chr19_12641512_12671742	12664791	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	378	0.0026	0	c.630 others(5): Show c.630+1G>C		MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding	4/23						chr19	TogoVar
MAP7D1_chr1_36151160_36185849	36179027	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03041.hp1 HG03041.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0072 a0017c0029t0001g0072	1	376	0.0027	0	c.213 others(6): Show c.2130+2T>G		MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	12/16						chr1	TogoVar
MAPKAPK3_chr3_50612151_50654291	50646826	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	324	0.0031	0	c.915 others(5): Show c.915+1G>A		MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	9/10						chr3	TogoVar
MARCHF7_chr2_159707506_159776027	159714599	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG01074.hp2 HG01516.hp2 others(6): Show HG00280.hp1 HG01074.hp2 HG01516.hp2 HG01517.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG03209.hp2 HG04204.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0020 a0004c0007t0011g0174 a0004c0007t0011g0175 others(5): Show a0004c0007t0011g0020 a0004c0007t0011g0174 a0004c0007t0011g0175 a0004c0007t0011g0176 a0004c0007t0011g0177 a0004c0007t0011g0178 a0004c0007t0011g0179 a0004c0007t0011g0180	9	362	0.0249	0	c.-10 others(6): Show c.-101+1G>A		MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	2/11						chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542748	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0019	1	416	0.0024	0	c.951 others(5): Show c.951+1G>A		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8						chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542749	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0019	1	416	0.0024	0	c.951 others(5): Show c.951+2T>C		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8						chr2	TogoVar

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