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
POU3F3_chr2_104849115_104863574	104855606	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00621.hp1 HG01981.hp2 others(17): Show HG00597.hp1 HG00621.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02647.hp1 HG02647.hp2 HG03098.hp2 HG03130.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04204.hp1 NA18965.hp1 NA18975.hp2 NA19067.hp1 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(3): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0023 a0002c0004t0002	a0002c0003t0001g0000 a0002c0003t0003g0000 a0002c0003t0004g0000 others(3): Show a0002c0003t0001g0000 a0002c0003t0003g0000 a0002c0003t0004g0000 a0002c0003t0008g0000 a0002c0003t0023g0000 a0002c0004t0002g0000	20	404	0.0495	1	c.101 others(4): Show c.101dupG	p.Gly others(4): Show p.Gly35fs	POU3F3	ENSG00000198914.5	transcript	ENST00000361360.4	protein_coding	1/1	1498/4460	102/1503	34/500		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRAMEF13_chr1_13191188_13206409	13196863	G G	C C	stop_gained stop_gained	HIGH	HG03831.hp2 NA19043.hp2 HG03831.hp2 NA19043.hp2	a0008 a0008	a0008c0010 a0008c0011 a0008c0010 a0008c0011	a0008c0010t0008 a0008c0011t0008 a0008c0010t0008 a0008c0011t0008	a0008c0010t0008g0026 a0008c0011t0008g0027 a0008c0010t0008g0026 a0008c0011t0008g0027	2	52	0.0385	0	c.138 others(4): Show c.1385C>G	p.Ser others(4): Show p.Ser462*	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding	4/4	1488/2163	1385/1425	462/474			chr1	TogoVar
PRAMEF13_chr1_13191188_13206409	13198880	A A	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show HG02280.hp2 HG02602.hp2 HG02630.hp1 HG02965.hp1 HG03017.hp1 HG03471.hp2 HG03831.hp1 HG03831.hp2 NA19000.hp2 NA19043.hp2	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0011	a0003c0005 a0003c0006 a0005c0012 others(5): Show a0003c0005 a0003c0006 a0005c0012 a0005c0015 a0005c0016 a0008c0010 a0008c0011 a0011c0017	a0003c0005t0003 a0003c0006t0003 a0005c0012t0003 others(5): Show a0003c0005t0003 a0003c0006t0003 a0005c0012t0003 a0005c0015t0003 a0005c0016t0009 a0008c0010t0008 a0008c0011t0008 a0011c0017t0003	a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 a0005c0012t0003g0011 a0005c0015t0003g0024 a0005c0016t0009g0025 a0008c0010t0008g0026 a0008c0011t0008g0027 a0011c0017t0003g0014	10	52	0.1923	0	c.314 others(3): Show c.314T>A	p.Leu others(4): Show p.Leu105*	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding	3/4	417/2163	314/1425	105/474			chr1	TogoVar
PRAMEF13_chr1_13191188_13206409	13199588	A A	C C	start_lost start_lost	HIGH	HG02965.hp2 HG03831.hp2 NA19043.hp2 HG02965.hp2 HG03831.hp2 NA19043.hp2	a0008 a0009 a0008 a0009	a0008c0010 a0008c0011 a0009c0009 a0008c0010 a0008c0011 a0009c0009	a0008c0010t0008 a0008c0011t0008 a0009c0009t0010 a0008c0010t0008 a0008c0011t0008 a0009c0009t0010	a0008c0010t0008g0026 a0008c0011t0008g0027 a0009c0009t0010g0028 a0008c0010t0008g0026 a0008c0011t0008g0027 a0009c0009t0010g0028	3	52	0.0577	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding	2/4	105/2163	2/1425	1/474			chr1	TogoVar
PRAMEF4_chr1_12874212_12891201	12881888	A A	AAACAGAG others(316): Show AAACAGAGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02055.hp1 HG02257.hp1 HG02647.hp2 others(3): Show HG02055.hp1 HG02257.hp1 HG02647.hp2 HG03831.hp1 NA18994.hp1 NA19054.hp1	a0012 a0015 a0019 a0012 a0015 a0019	a0012c0010 a0015c0014 a0019c0022 a0012c0010 a0015c0014 a0019c0022	a0012c0010t0001 a0015c0014t0001 a0019c0022t0001 a0012c0010t0001 a0015c0014t0001 a0019c0022t0001	a0012c0010t0001g0022 a0015c0014t0001g0038 a0019c0022t0001g0067 a0012c0010t0001g0022 a0015c0014t0001g0038 a0019c0022t0001g0067	6	304	0.0197	323	c.840 others(330): Show c.840_841insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGAACTCTGTT	p.Ser others(5): Show p.Ser281fs	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	3/4	911/1840	840/1437	280/478			chr1	TogoVar
PRB2_chr12_11386540_11400567	11393558	G G	A A	stop_gained stop_gained	HIGH	HG03831.hp1 HG04228.hp1 NA18941.hp1 others(1): Show HG03831.hp1 HG04228.hp1 NA18941.hp1 NA19063.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0002 a0006c0007t0001 a0006c0007t0002	a0006c0007t0001g0048 a0006c0007t0001g0049 a0006c0007t0002g0046 others(1): Show a0006c0007t0001g0048 a0006c0007t0001g0049 a0006c0007t0002g0046 a0006c0007t0002g0047	4	408	0.0098	0	c.520 others(3): Show c.520C>T	p.Arg others(4): Show p.Arg174*	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	558/1431	520/1251	174/416			chr12	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00639.hp2 HG00733.hp1 others(49): Show HG00438.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0333	52	357	0.1457	3	c.-48 others(14): Show c.-48-5_-48-3dupTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR20A_chr13_57135918_57148939	57140442	ACGCACCA others(6563): Show ACGCACCACCTCCGGGCCTGGACTTGGCCTCCCGTCCATTCCCAGAATGT GCCGGGCTCCCTTCCAGTCCGGGCCTCAGCACACTCTCTTCACTCCCCTT CCTCCCTCCCTGCCTCTCCCAACCCGGTTCAGGATGACTAATTTCAAACG TTATGTTCCAGATTTCAGCCCAGATATCCCCGCTTTGGATGCTTTCCTTG ACCATGCTCAGATCTAAGCTAATCGCATCTTCCTGTCAGCCGCTTTCAGG GCACCACACCTCATTGTGCTGACACTCAGAGGTCATTATGCAATTTTTTT TCCTCGATGATTAGATTAATCAATCAACCACGGACGTCTAGAAATGGCGG CATCTCAGAAGGGCCCCCATTTGACTGGCAGGGGACTGGCCCAATGCGCC TCGCAAGCCCAGCCAGGCCCGCCCCAGCCGGCCCCCCTCTGACGACGCCT GTCCCTTACGCGACTGCCTTGCTGCCATATAAGAGGGACGGCGCTCGGCC TCCAGCAGTCGGCTTTCTGCTGGGCTCGGAGCCAGAACCTGCTGCGTGCT CCCTCCAGACTCCCTGGCTGCGGGTGGACTACCTCAGAGCTACAGCGGTG AACCTGTGGACACCTCCGACTCCTCGGGCCTCTCTTCGTCGAAGAGTCTC CTAATTTTCAGATCTCCGGAGCCAGCTGTGGGAAGATCAGGTGTGTGTCT GGGGGTCCCGGAGGCGTGGACGGATCTCGGGTGGGTGCAGTTGGGGACAG AATCCTCATTCCCCTAGAAAGGCCACGGCCATCCCCCTGCCTTGTCACCT CTGTCTTCCTAAATCCGTTCTTGCTCTCTTGTTTTTCTCCCCAGCCCCTC CCGCCGATTGCTCATGGAGGAACCAAGGCCTTCGAAGCGACTTCGCTCCA TGGCCCCTAATCAAGGTACATCAAACGCCTGCCACTCCTCTCTTTTTAAT TTCGTCTGTTCCCCAATTCTTCCCCAATGGTTGACACTCAAACTCAATCA AGCATTCTCTGTTTCACCTTCTCCTAGCCTGCCTCAACCTGGGCTGCTTG TTGGAAGTCAGCTCCCGGGTTCCACATCATCTGGGAAATTCCTTTCCCTC TTCCGAACCGTAATCCCATTTCCCAAATCTGAGATTTGCTGTTGTTGTCG CTGTTTCCTTCTGTTTAGTTTTGTATTACTGTTTCTCCGTAGCAGAGCGA GTCCTCACGCTACGTCTTGATCTATGATAAACCGGTACTTCCACCTTGTT CTTTCCCGGAGGAGTTGGAATTTTCCGGCTGTTGCCACGTTGTTCTCCAA AACTTTTCCCTTCATACGCTGAGTGTCCTAAATCTTTTAATCTTGTCTAG TTTGACAGATGCATAACAATAAAGCATCCACTGAAAGGAAATTCTTTAAC ATCTTGCTTGTCTGAAACATCTTCATTCTCCCCTCCCAGATTCTTCAGCG AAACTTCGGTTGGACAGGAAATTTTAGGTGGGAAATTCATTTCCCTTGAA ATTTCGAAGACATTTTCTGTTATGTTCTAGACTGAACTGCTGCTTTTGAG ATGTCTGACTTTTGAGACATGTGGAATCCTAGCCCTTTCCATGTGACTTT TCCTTTCTCTGTCTCCCGCTCTCTAGAATCTGTTAGAATCTTCTCTTTTT CCTCAGCACTCTGAAATTTTCTGGTGAAATGTCTCAGCCACAGCATACCT CTAATTCTCTTATATTTCATCCTTCTTTCCATCATTTTAGGTTTTTGCTT TGTTCTGTGGGAGACCTTCTCAACTTCATTCTCCAACTTCCGTGGAGAGT TTTGTTTCTTCTCTCACAATTTTAACTTCAGAAATCCCTCTTTTCTCTGA GTATTTATTTGTAAAAGTATCCTATAACTGCTTGACGGGTGAAGTTCCTT CTGTCTCTCTCTGCTCACGCTCCGCTTCTCTTTTAGCCTCAGGTGGGCCT CCTCCAGAGCCAGGCTGCTGTGTTGCGGACCCTGAAGGCTCCGTGGAAGC AGATGGGCCCGCACAGCCAGCCCAACCCGCAAAACCCATCGCTTACGTGA AACCCTTCAGACGGCAGCCCCCAGCTCGCCCAGAGTCACCCCCTCCTGCA GAGAGAGGCCGGCGCCGGGGAGGAAGCCGGCGGCCAGGGCGAGGCCGTGG CAGAAGGGCTGGGCCCCGCGGGGACGCTGGCCAGAGACAGGGGGCAGAAG GCTTGATGGCACCGGACGTGCACATCCAACTGGACCACCATGGAGAGCCA GGCCACCAGGGGGAACCGGAAATCACGGAGACCGCAGCCTTCTCCCTTTC TGAAACAGGTCCTCCGCCTGGAACTGTGCAGGAAGGCCCTGGCCCCGACG TGGCGCAACCTGAGCTGGGGTTTCAGGAGCCGCCCGCTGCTCCTGGGCCT CAGGCTGTTGACTGGCAACCCGTCTTGACCCTCTATCCCTGCATCGGGTT TAGGGCTCTGGGTGACTCAGCGGTTTTACAAGTCATTCAAACCCCCCAGG GCACCTACGTGCAAGGGGTCCCAGTGTTCCTCACCGACATTGCGTATTGA CCACTATCTGCCACCCACGTTGTTCCCAGCCTCCCTTCCTTCCACCTGGA CGTTCCCCCCAGCCCCACTTCTGCTCCACTCCTCCCCCGACTGGACCTGA AGCCTGAGCTTCCCCTGAACTTGGAGTACGCAACTTACAACATGCAAGCT GCCAAACACCCTTTCTGTACAAGGCGATTGGAATGGAACTGTCATGTACA GTGAAAGTACACGTCACGTTTTTCAGCCAAGAAGAAGCCAACCCAGACAA CCTGGAAGAAGTGGGATGCAACAAGGATCACTAAGCATGGAAATTAGGAA ACTGTATTCTTAAGTCCAGAGAAGTACGATTCTGGAAAAAGGATTGATGA CCTAGAATTAAAATTCCAGAAGACACTCATATAGACATGTGGGACATGCG AAAACTCAGAAGGAGCTAGAAGTTACTAAAGTGCTTCTCTAGTGCCTGGA GACGATAGACTGGCTGAATATAAGAGCAATAAAAATCTAGACTGACACAT TTTTAAGTCTCAACGTGGGTACCCTTTGGGAACCACTAAATGAATTGGAA TAGAAGGTAAAATTTCAAACAGATTGAGGAAAAAGGGGATCAAAGGACAT GTGACGAATCAGACAAAAGGTGTTGGGGTGGGGGGGGGGGCGGTTAACGG AAGCAAGGAGAGTGCATGACTCACTGGAACCGCTAAACCAGGAATCAGTA ATTTGACGGCAGTGTCCTTGGCTTCCTCCTGGCTTTAATGGGAATATTTT GAATGTTTCACCATTAACCAAGATGTTGGCTGTAGGTGTCTCTTAGATGT TTAAGTTGAGTTAGTTCCCATCTTTTCAGAGTTTGATAAATGTTGTATTA TGAACTTTTGTATTTTGTATTTTATTAGGTAGGCTGTTGTTGGCTGGTTT TCACTCCTTTGTAAACGTCCAAATAAAATACAGATAACTTTTTACATCAA AGATTTTTCTCTTGTGTACTCAATCCTTCTAAATAAACCTTTCTCTTCAG ACTTATTTTATAGAACAGTTCTTTCACTAAACTTTCACAAATCGCAAATA CAAAATGTGTTTACTAAAAGCAGAAAGGAAGGTAGAAAAATGGCTCCAGT CTCTGTTCTCCATTCATATCGCATCTTTCCCCATAGTCACACAAGTCTAC ACCAACAAACGTGTACATTGAGAGCATCGTTTGTGGCTCGCTTTTACAAA CACCTGGCGTGCCATGCGCCAGGGGTCCTGCTGAAGTGACTATAAGGTCC AGGCAGGCAACACAGGTGTGGTCAGGACCAGAGCCTCTGTGGAGTCCGTG CGTCTCCAAACTAGGAACAGGCGACTTCGTATTGAAGCATGGCATGGAGC ACAATGAGCACTGTGCAGTGGGAGCTGCTTCTTGGCTTGCCATTGGGGTC TGTCATCCATAAGCCAGAAAGCCCCCTTGCAGTCATCCTACGCACATGTG CCACTATCTTCTTGCTGTATATCTGTCTGGAAAGATGCACAGCTTTTACA TTATGCAGGTGGTGGTCTGCTGATACGCTACTTCCAGGATATTTCTACCA CCAGAATGCTTCACTAAACATTGGTACGTGGAGTAAGACAGGGTCTCATT CCGTCATCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCAGCGCAGCCT GCGCCTCCTCAGCTCGGGTGATCCTCCAACATCAGGTTGCCAAGTAGCTC AGACTGCAGGCAGGCACCAAGAGCCCTTGGTAATTCCTCCTGGTTTATTT ATTCGTTCATTTATTTATTTATTTATTTTGAAACAGACTCTCACTCTTTC ACCCAGGCTGGAGCGCGGTGGCTTCGGCTCACTGAGAACTCCATTCCCGG GACTGAAGCGATTCTCATGTCTCGCCCTAATAAAAATAGGAAAATTAGCC AGGCATGGTGGTGGGCCACTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCG GGAGAATCCTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCCAGACTGC GCCATTGCAGTGATCCGAGATCATGCTATTGCACTCCAGCCTGGGTGACA AGAGCAAAACTTTGTCTCAAAATGGAAAAAAGAGAGAGAGAAGTTATCCC AATAAGAAAGATAAAAGTTTTGAAGAGAAACTTCACAGAAGAATCTATGG GTTCGGTCAGTGAGCACACGAAATCCCAATAAGGATGAGAATATGCAAAT AAGCATGGAGCATCCTGTGGTGCCAGGGAGAAAGGAGCCGCCCAAAACCA AACAAAGCCAAAAGCCACAGCGATGGGAGGTTGACAAAGGGACACGGAAG CCAACTAAAGGAGCTCCCGGTGGCCAAAGCTGGAAACGTTGAGTAACAAA GTAATTAGCTAAATAATTAATAATTAAATAGTTAAGTAAAATATTTGACA AAATAATTAGTTCAATTATTAAATAATTCATCCCCCGAAGTACTGGAGTG TAAACCAAAGCATACAATAGGTGTCCATAAGTCCATACGGATATAAATAA GTGATTAAATAAACAAACATGTGGGGGAGAATGGGAAAATCCTCCACACA GGAGAACTCCACAGAACTTAGGTAGCTATTCCCCTGCAAGGAGATAAAGC AAAACTTCCCTTTTCTTTACGTATAGGCTACAGGTAGCGACTTCCAGAAA GCACAGTAGAGAAAGAGGTGGGAAAATCACTTTATGGTGGAGAAACCTAA TCAACACTGCCCCAGCCCGGTGACCAGGACTAATAGCAGCAGTGATAAGC CGGCTTGATGGTGTGTACTCTAGACAGGATGGGATGGGAATGGCGCTTTC CCGCTGCAATCTTCCTGACAAAAACATATAATTCCAGTCAGATCACAAGG AATACATCACACGAACTTCAGGAGAGGACATCCCACAATATATCTGATCA GTATTCAAAGTGTCAGGGTCATCAAAAACAAGGCAAGTGTGAGAAACCGT CGCAGCCAAGGGGAACCGTGACGAGTTGTAAGGTGGTACCCTGGATGGGG TCTTGGGACAGAAAAGGTATGTGAGGTGAAAGCATAGCAAAACCTCACTT CAACAGGAAATACAACCCAAAAAAATAATTGGCCGGGCATGGTGGCTTGC GCCTGGGGTCCCAGCGACTCGGGAGGTTGAGCGGGACGGACGGCTTGAGC TCAGGCCTTCCAAACAAGCCTGGGCACATAGCGAAACCTCGTCTCTCCAA AAAAATCCGAAAATTATCCCGATGTGGTGGCGCTCACCTGTAGTCCAGCT ACTCCGGAGGCCGAGACAGGAGAATCACTTGAACTGATTCTCCTATCTCA GCCCCCCCCCCCCCCCCGCCCCACCCCAAGTAGCCGCAGCGAGCCGAGAT GGCACCGCTGCACTCCAGCCTGGGCTACAGAGCGAGAACCCGTCTCTGTA AAAGACACAAGGATGCAAACCAACCAAATAACCCACTGTGGGATCCCCTC CAGCGTCCTGCTGTGTTTCCCGCTGTCTTCCTCCACCCGTGAGTGCACCC ACAGCAATAAAAGCCAGCGGTGTGGGTCTCACACGCATCTCCAGCCCCGT CGCCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCT CACTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTC CGCAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAA CCGGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTG GGTCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTC CTCTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAG GGCTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGT TGGCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTG CCGGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCT GCGCGGACCCTGCCTCCACCT	A A	transcript_ablation transcript_ablation	HIGH	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0000 a0005c0000	a0005c0000t0000 a0005c0000t0000	a0005c0000t0000g0000 a0005c0000t0000g0000	1	271	0.0037	-6570	c.-70 others(10): Show c.-708_*4021del	p.0? p.0?	PRR20A	ENSG00000204919.1	transcript	ENST00000377931.1	protein_coding	3/3						chr13	TogoVar
PRSS48_chr4_151272161_151296862	151279866	G G	GCAGGT GCAGGT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131	89	426	0.2089	5	c.127 others(12): Show c.127_131dupGTCAG	p.Ser others(4): Show p.Ser44fs	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	2/5	144/1408	132/987	44/328		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002 a0006c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0005t0001g0124 a0001c0005t0001g0125 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0005g0001 a0002c0002t0005g0062 a0002c0002t0006g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0004c0004t0004g0009 a0004c0004t0004g0022 a0004c0004t0004g0039 a0004c0004t0004g0081 a0004c0004t0004g0082 a0005c0006t0002g0059 a0006c0007t0004g0132	324	426	0.7606	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328			chr4	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419			chr19	TogoVar
PSG7_chr19_42919132_42942207	42935895	CACACACA others(1510): Show CACACACACACACACACACAAACACACACACACACATATAAAAGGGGCAT GTGTGTTTCTGTGTGTGTCCTACTGTCCTACTAGGTCAAGGTCAGCAGCA TGACCCCCATTCCTTCAACACTCCTGACTTTGGCATTTTTCTGTTTGGAA TCCTCTTCCCCAGGGGTCCGCACGGCCCCCTCCACACTGCCCTCAGGTTC TGCTCACATCAGGGCATCCTTAGACTTCTTTCCTGACACCTCCTTCAGAG AACCTGGGTCTTTCCTTTTTGACCTTTCCCTGCTCTGCTCCCTCCAGGGT TCTTGTCAACACCTGATCTCACATTCTAGATCTCTTTGCATGTCTGTCTT CCTCCCCATGACAGCATGAGCTCCGTGAGGACAGGGACTTTTGTGATCTT GGTCGCACCCCAGTGCCTGGAACAGGCTGCAGACTCCTGTAGATGTGAGA GTTCTCAGGGGCCTCCATGCCCTGGGTGTTTTTTTTCCTCCCAATTGTTG AGGTTTTTTGCTGAGGACAGTGTTTCATGCCCTGCTTATATTTTTATTTC AAGTGTCATCTGATATAGTTATTATTTTCATTTTTCAAAATGTGGTGACC CCTGAGGATTAATCAGAAAAACAGAACACTTAAGATTTTCCTACCTCTTA CCAATTCCGGTTCAATGTGACTTTCCTATTTTGACCCCTGTCCCTCTCTG GTGTATTTTCCCCTATCCAGGCTCCAACAGAGCCTTCTTTCCTTTTTTTT CTTTTTTCCTTTTTTTCTTTTGGGACGGAGTCTCATACTGTCACCCAGGC TGGCATGCAGTGGTGCTATCTCGGCTAGCTGCAACTTCTGCCTCCCGGGT TCATGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAGC ACACCACCATACCTGGTTAATTTTTTGTATTTTTAGTACAGACAGGGCTA CATTGTGTTGGCCAGACTGATCTTGAACTCCTGATCTCTTGATCCACCCA CCTCAGCCTCCCAAAGTGCTGGCTTCTTTTATTTTTTAGAACCCCATCCT CTCTAGGAGACCCCATCCAGTCACTCTGCTTCCTTTTCCTGTCCTCTCCC AGGAAGTTCTCTCCTCACCTGTGAGCAGGAGCCCTTTCCAGGTTATATGC TGTGTGCAGGGAGGGGCTGAGAGGGGCCCCATGGTCTCTGCTCCCTGCGT GTTCTCCTCTGTGGAGATGAGCCTAGGATCCAGAATCTTCCTGAGCACGG CTGTCAGCTGTGCTGTCCTTCCTCCTTCTGCACTGAGCCTCTTCCCGGGG CAGGAGCACTTCTCAAGCTCATGGGTGGGGTCAGGCCCAGGACACCTCTC TGTCCCCTCCTCTCTCAGTTCTGCCTCCTTGTCCCTCCTTCTGTTTTTCC TTTTGTCTGTGTTTCAGGTCCCTGGGAATTGTGGAGCCCTCTGCCTTTTT CAGCAGTGATTCTTTCACCAAACCTCAACACACACTTTGTGCAGACACAC ACACACACACACACACAT	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03831.hp2 HG03831.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0013 a0009c0028t0013	a0009c0028t0013g0219 a0009c0028t0013g0219	1	414	0.0024	-1517	c.-33 others(11): Show c.-336_65-127del		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	1/6						chr19	TogoVar
PSORS1C1_chr6_31109800_31145092	31138723	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0006c0013 a0004c0005 a0006c0006 a0006c0013	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 others(4): Show a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0006 a0004c0005t0021 a0006c0006t0004 a0006c0013t0019	a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0169 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0186 a0004c0005t0003g0189 a0004c0005t0005g0226 a0004c0005t0006g0024 a0004c0005t0006g0163 a0004c0005t0006g0164 a0004c0005t0006g0165 a0004c0005t0021g0235 a0006c0006t0004g0002 a0006c0006t0004g0018 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0221 a0006c0006t0004g0222 a0006c0006t0004g0223 a0006c0013t0019g0225	57	414	0.1377	1	c.118 others(4): Show c.118dupC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	439/939	119/459	40/152		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTTG1IP2_chr7_90464639_90518397	90487326	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp1 NA18955.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0004c0005t0001g0240	72	382	0.1885	0	c.193 others(5): Show c.193-1G>A		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	2/6						chr7	TogoVar
PUSL1_chr1_1303597_1316677	1308915	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG01123.hp1 others(16): Show HG00408.hp1 HG00438.hp1 HG01123.hp1 HG01358.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02818.hp1 HG03195.hp2 HG03831.hp2 NA18950.hp2 NA18995.hp2 NA19000.hp1 NA19057.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0008t0001g0004 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0008t0001g0004	19	349	0.0544	1	c.82d others(3): Show c.82dupG	p.Val others(4): Show p.Val28fs	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding	2/8	130/1257	83/912	28/303		INFO_REALIGN_3_PRIME	chr1	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0020 a0008c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0020t0001 a0008c0023t0002	a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0005g0289 a0001c0002t0001g0220 a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0129 a0001c0002t0003g0169 a0001c0002t0003g0175 a0001c0002t0003g0188 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0003t0002g0007 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0005 a0001c0005t0002g0015 a0001c0005t0002g0041 a0001c0005t0002g0194 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0201 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0006t0001g0160 a0001c0006t0002g0011 a0001c0006t0002g0034 a0001c0006t0002g0049 a0001c0006t0002g0132 a0001c0006t0002g0140 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0001c0006t0002g0174 a0001c0006t0002g0178 a0001c0006t0002g0200 a0001c0006t0002g0250 a0001c0006t0002g0271 a0001c0006t0002g0272 a0001c0007t0001g0282 a0001c0007t0002g0052 a0001c0007t0002g0274 a0001c0007t0002g0275 a0001c0007t0002g0276 a0001c0007t0002g0280 a0001c0007t0002g0281 a0001c0007t0002g0283 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0009t0002g0057 a0001c0009t0002g0058 a0001c0009t0002g0064 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0056 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0043 a0001c0017t0002g0078 a0001c0021t0002g0278 a0002c0004t0001g0029 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0262 a0002c0008t0001g0025 a0002c0008t0001g0026 a0002c0008t0001g0065 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0020 a0003c0010t0002g0060 a0003c0010t0003g0021 a0003c0010t0003g0022 a0003c0010t0003g0059 a0003c0010t0003g0061 a0003c0019t0002g0269 a0004c0011t0002g0035 a0004c0011t0002g0166 a0004c0011t0002g0167 a0004c0022t0002g0277 a0005c0013t0002g0008 a0007c0020t0001g0279 a0008c0023t0002g0287	253	388	0.6521	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19						chr14	TogoVar
RAD51B_chr14_67814779_68483093	67864961	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01175.hp2 HG02615.hp2 HG03831.hp1 others(1): Show HG01175.hp2 HG02615.hp2 HG03831.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0034 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0005g0033	4	16	0.2500	2	c.316 others(13): Show c.316-4_316-3dupTT		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAP2C_chrX_132198025_132224447	132217914	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp1 HG02602.hp1 HG03831.hp2 others(1): Show HG02055.hp1 HG02602.hp1 HG03831.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0038	a0001c0001t0001g0077 a0001c0001t0009g0070 a0001c0001t0010g0078 others(1): Show a0001c0001t0001g0077 a0001c0001t0009g0070 a0001c0001t0010g0078 a0001c0001t0038g0079	4	233	0.0172	1	c.-53 others(7): Show c.-539+1dupG		RAP2C	ENSG00000123728.10	transcript	ENST00000370874.2	protein_coding	3/5						chrX	TogoVar
RAPH1_chr2_203428682_203540301	203441288	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01517.hp1 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02809.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18965.hp2 NA18977.hp2 NA18987.hp1 NA18988.hp2 NA18994.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19067.hp1 NA19078.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0002c0006 a0002c0012 others(8): Show a0002c0005 a0002c0006 a0002c0012 a0002c0013 a0002c0016 a0002c0017 a0002c0018 a0002c0022 a0002c0023 a0002c0031 a0006c0025	a0002c0005t0002 a0002c0005t0003 a0002c0005t0011 others(28): Show a0002c0005t0002 a0002c0005t0003 a0002c0005t0011 a0002c0005t0012 a0002c0005t0013 a0002c0005t0022 a0002c0005t0029 a0002c0005t0080 a0002c0005t0087 a0002c0005t0107 a0002c0006t0001 a0002c0006t0004 a0002c0006t0027 a0002c0006t0030 a0002c0006t0048 a0002c0006t0074 a0002c0012t0039 a0002c0012t0091 a0002c0012t0099 a0002c0013t0002 a0002c0013t0009 a0002c0016t0001 a0002c0016t0020 a0002c0017t0015 a0002c0017t0018 a0002c0018t0021 a0002c0018t0083 a0002c0022t0054 a0002c0023t0003 a0002c0031t0105 a0006c0025t0030	a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 others(33): Show a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 a0002c0005t0011g0015 a0002c0005t0012g0206 a0002c0005t0013g0170 a0002c0005t0022g0117 a0002c0005t0029g0035 a0002c0005t0080g0127 a0002c0005t0087g0254 a0002c0005t0107g0289 a0002c0006t0001g0008 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0073 a0002c0006t0004g0143 a0002c0006t0027g0019 a0002c0006t0027g0024 a0002c0006t0030g0048 a0002c0006t0048g0084 a0002c0006t0074g0164 a0002c0012t0039g0270 a0002c0012t0091g0262 a0002c0012t0099g0265 a0002c0013t0002g0216 a0002c0013t0009g0256 a0002c0016t0001g0010 a0002c0016t0020g0074 a0002c0017t0015g0097 a0002c0017t0018g0232 a0002c0018t0021g0161 a0002c0018t0083g0253 a0002c0022t0054g0166 a0002c0023t0003g0169 a0002c0031t0105g0266 a0006c0025t0030g0026	36	288	0.1250	1	c.190 others(5): Show c.1901dupC	p.Pro others(5): Show p.Pro635fs	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	14/14	2092/9699	1901/3753	634/1250			chr2	TogoVar
RFPL4A_chr19_55754097_55768421	55757393	TTGCTTGT others(9995): Show TTGCTTGTACAGTGAACAGGGCCTGGGGATCGGAAGCCACCGAAGCCAAC CATTTACGTCAGCTTCTGTGACACGCCTGCAGGGACGGGGCATGGAGAAT ACAGACCTCGCTGACTGGGATGTTGAAGGACAGGTTTTTATTCAAACACA GAAGACCCCTAAAGTACTGAACTGTACATGAGAGTGGGCAAGGAAACTTT ACCACTGTCTGAATAGAAGCCAGCGGAGCTGCTTTCTGTGAAAAGATGCA ATTGGAAAAGATGTGGAAAGTATCTAACACCCAAACCAACCCCACCAGTG TGCCAGCAATCCTAAGACGCTATTCTCTAATTCTGAACGGAAGAACTCCT CTCCCAAGACATGAGCATGAATGCAATTCCAGGCTGTAAGATATTTTGGG AGACTATTAGAGAGGCAAATCAACCCACTGGGCTTGGTGCTTTCCACAAC TGAGGCCACCTGGTATTCCCAAAGAGAACAGAAATTTCGTTCAAGCTTTA CGGGAAGCAGATAAAAATTAAAAGATGTGAGGGATCAGTGCTCCAGGAAC ATGGGCCCATAAAATTACAAGCTGGAGAATAACTGCTCCCAGAAATGTGA GTATATTTTAAAAGGATTTATATGAGAAAATAAAGCAATTAGAATTATGC AAGAAGAGATAAGCATTTTCTCCCTGCATGCATATGTGTAGATACGGTAT GTGTGTATACATGGACATACATGTGGCAGATTATATTATAGGTCCCAATC AATGAAGAAATGCAATGTGCAAGGATTTCATCTAATATATGCACCACAAC GTAGAGATTTGTGTTTCTCCATTTGCCTTCATGAGACAAAAGGAATTGAG AACTGCCTTGGCTTTGAATAGGAAAGAAGAGAATCTAGCAATCACTAGAG AATGATTACTGTGGAGATGATTAAATTAAAGACTATTAATTTAATCACAT TAATGTAATCAAATCCTTTCCCACCTGACCTCCAGTCTCCCACTTTTACA TTCTTATCCATGAACTCTGATCACCTATAATATATTTAATACATGAGGAA CCCGTTTTTGAACATTTTTAAAGAGGAAATGAATCTCATTTTACTTATGT TGTGATGTAAGGGAAATAGATTGTAACAGTAACGTTTAACTTTCATTTTA GATGCTGCAACTACAAAGAAAAACGGACTTTCACTGGCTGACTGATTGTC TGGAAACCGTTTTGGGATTTCTTTCCTAAGCTTCTTAATTAGAATCTTTA CATTATAGAGAAAATGATTTTGAGAGTTGAGTGTGGTCTGTGGAGTGTCC TATTAGTAACGACTTCTGAGTAGGTTTAAGTCACCTCTTTTATTGAAATG TGAAAAGGTGTGACATTTATAATAGAAAACTCTTTGAAAGTCGCACCGTT CATTTTAGAGGAATTTTAAATGTCACCCCAAATTTTACGATTTTAATTAA TTTTAATTAATTTCCAAATTTTAACCAATAGGCATAATATTCAAGATCTT ATCTAAAAATTATTACATGGCAATATTTTGTCCTTGTTAATTAAAAAATA ACACTGAAAACACAGTCGTCTTCCTTTAAGGTAAAAACCTGTCCAATAGT AACAATCTCAATGATGGCAGAATGAAATCAGAATCTGATTGGATTAAAAA GGAGGGAAAGGGTGTGGCTAAGGTGGGTGGAGACACCCTCTGGTATAAAA GCCCCTGGCAGGCAGCTCTCACTCCAGATCTGAGCTGTCCGCAGAAGCAG CTGGAGGCCAGGGGAGAAACTCCAGAAGGAGAGGTGAGTTCAATCTTATG GAATTCATTTTTACAAAAGGCGTATGAGAGTCTAGGGGAATGCAATAATG TCTTGATTCCACAAGTGTTGTCTGAGGCCAAGGCCATGACAGACACACTG TATTTCTGGAGGATAAGGGGACCTCTTCCCTGGTAACAGTTAGGTAAGTC TTAGATTTTCAATACCAAGGCGAGAGACTTGACAATCTCCATTTGCTTGA ATTTCGTGAGAATTTGGTAGACTTTCTGAAATGATGGACAGAGGTTCGGT GGCTGCGTTACTCAACGTCAGGTTTTCCTATGGGTTTGGTATTGTTTTCC TATTCTCCCCTTCCCACAACCCCTGGCAACCATCATTCTTCTCTTATTTT CTGATTTTTTTTTTGTTCAGTTTTTTGTTCCTTTTAATTCAGAAAGAGAA AGGGAAGGAAATGAAAAGCAAAGTTTGTTTACATTACTATTGCGGAAAAG ATCTGGCCAGATGCTGGGACCCACCTCTTCCAGGATGGGGATTCATTATT TCTTTAATTGTTTTGAGACAGGGTCTCGCTCTGTCTGCCAGGCTGGAGTG CAGTGGCTATTTTCTGATTCTATGAGATCAGTCAACTCAGATTCCACATA ACTGAGATCATACAGTGTTTACTTCCCTCAGCCTCACTTATTTCACTTCC CATCATGCCCTCGGCCTTCATCCACATTGGTGCAATGCCAGAATTGCCTT CTTTTTTATGGTAGAATAATCCAATGTATATACCACCATTTCCTCATCCA TGTTTCTCTCATAGACTCTGGGGTTGTTTCCATGGCTCTTGTGAATAACG CTGCAGAGAACCTAAGAGTGCAGATGTCTCTTTGACATGCTGACTTCTTT CTTTCACGTAGAAACACGGAAGTAGGGTTGCTGGAACACAGGCAGTTCTA TCCTTCATGTTTTCAGAAACCTCCCTACTATTTTCTGTAGTGGTTGTACC ATTTTCTTTCCCACCAACCGTGCACAAGGGTTCCCCTTTCTCCACATCCT TACCAACACTTGTCTTTTGTCTTTTTGATCATAGCCATCCTAGCAGAGAG GGGTTAATATCTCATCGCGGTTTTGTTGCTGGAGGGCTCAGGAGGCTCTC TGGATGCCAGAGAGACCCCAGTCCCAGCCAGTTTCCAGGTTCTGGATGCT GTCGGGAGAACGAATTCAGGGATGAGCCAGAATGAAGTGAAAGGCAAGAA GTTTTTATTCCAGAGCAAAAGCACACTGTTAGGAGAGAAGTGTGGGCGTG ATTCTGAAAGCTGGTGGCTTTCGATGGCCTTCGGGGTTTCTATTTTTGTC AGTCCTTCTAATTAGGAGGTGAACTAATCATTAGGTTTTCTAGGAAAAAG CAGAGATTTTTTAGAATTGGTGAGGTACCCATTTTTGTACTACATATGGG CATGCTGGGGTCAGCCGTGACACTGCAGAATGTGTGATTTAGTGTGATAA TGACCACGGTCATTACTGTGGCAATGCTTTGAAACAGCTTAACTCCCTCC GGTTTTTTATCACCTCATGAGCCCAGGTTCCTCCTTGTCCTTGTAATTTT AATGACAAGTGGCTAATTTTAACAGCCACTGTTTTGGTCCTATGTGAAAA TGTCACTGGATACGTTCTCGATTCTCTTGTGACCACACAGTATTCCTGCC TCAGTTTAAATTGCATTTCTCTGATGGTGAGTGAGGTTGAGCTTGTTCCT CAGTACTTGCTGGTCGTTGGTGTGTGCTTTTCAGAGAAATATCTATTCAG GATTCTGCCCATTGGAATTTGGATTATTTTGGCTTTTTTTTCTTTTTGCT ACAGCCTTGAAAATATTCCTTATATATTTTGGATATTAATCCATTGTCAT ATATATGGCTGCTTGTTTGTTTTTCATTAGTTCTGGTTTTTCCTTTTTTT TTTTTTTTCCGCTATGCAGAAGATTCAGTTTTACCTGGTACGACTTATTT GTATTTTGTGTCTTGTCCTTTTGTTGCACTATCAGGGTTTTCACCACATG CAGTTTGCACAGTTGGGGAAGTAGAAGGTCTTCAAATGGACTCCAGCACT GTCCAATAGAAACATAAGATAACCCATATATGTAATGGTAAATTCAGTTT CTGGTAGTCACATAAAATAGAACAAAACAAGCCTAATGAATTTTAACTCA AAATATAATATCGTTTAACATGTGAGCAACTTTAAACGTTCTCAAGCAGA TAGTTTACGTTCTCTTTTCCCCATTATGTCTTCAAAAATAAGAGCGTATT TGGCTCACAGCACATCTCCATTCAGATACACCCCATTTCAGGTCTCAATA GCCATTTGTCACTGGTGGCTACCATATGAAACAGTTCAGGTGTAGACTCC TTTACTATTTCAACTCAAAGTCTTTCGGTGAATCATGCCCTTTATTCCAA TGAGTATTACAGATATTAGAAGTTCAGGGCCTCGAGTCATTGACATTTGT ATTCATGTTGTGTCTTCGTCACTAGCAGTAGTGATTTTAAGTGTCGTGCT ATGATAGCTCCATGCATGTAAAGATAAAAGCCCCAAACACTATCAGCTGT TCATTCAGCTCGTGGAAATTCTAATTCTGTGTTCATTTTTTTTCTATAGA CATTTGCCATGGCTGAGCACTTCAAACAGATCATTAGATGTCCTGTCTGT CTAAAAGATCTTGAAGAAGCCGTGCAACTGAAATGTGGATATGCCTGCTG CCTCCAGTGCCTCAATTCACTCCAGAAGGAGCCCGATGGGGAAGGTTTAC TGTGCCGTTTCTGCTCTGTGGTCTCTCAGAAGGATGACATCAAGCCCAAG TACAAGCTGAGGGCGCTGGTTTCCATCATCAAGGAACTAGAGCCCAAGCT GAAATCTGTTCTAACAATGAACCCAAGGATGAGGAAGTTTCAAGGTAAGG AATCTATAGGACCTGCCACAACCCATAAAAGGCACTGGGAAAATGTCTTT CAAACATTTCTTCATTAAACATAGGCATTAGCAGGATATCTAGCATCTAA AACTTCCATGCTTCACAAACAACAGCAGTTCTCACCTTTGCGTAGAGATT TTCATGGAATCTGTGCAAGTTTGTAGAATACTTTGGAGAGCAAGCTCCTG TCTTCTTTCTTGTATCATATGTGCTAAATGGAAAGCTAATTTTCATCAAA TTATCCACTAACTTATTTCGAAAGGCATTTCTAATATGAATAAGGTGGAC TTGTTACAATGATCATATTCATGCAACCTATAGATACAATTTAACCTCAT CAGGTGGCCAAACAAGTTTCCCCAGGAAATTTTGATTTGGGAAAGAAAGT AGAATAAAAGTAAAAGTGAATAATGTGTTTAAGTGTTTGCAGTCAAAGGG CAGAGGGAGTCTGTAGTGTGTGTCTTTGCTGAACTCCTGGTTCTTCTTTG CACAGTGGATATGACGTTCGATGTGGACACAGCCAACAACTATCTCATCA TTTCTGAAGACCTGAGGAGTTTCCGAAGTGGGGATTTGAGCCAGAATAGG AAGGAGCAAGCTGAGAGGTTCGACACTGCCCTGTGCGTCCTGGGCACCCC TCGCTTCACTTCCGGCCGCCATTACTGGGAGGTGGACGTGGGCACCAGCC AAGTGTGGGATGTGGGCGTGTGCAAGGAATCTGTGAACCGACAGGGGAAG ATTGTGCTTTCTTCAGAACACGGCTTCTTGACTGTGGGTTGCAGAGAAGG AAAGGTCTTTGCTGCCAGCACTGTGCCTATGACTCCTCTCTGGGTGAGTC CCCAGTTGCACAGAGTGGGGATTTTCCTGGATGTAGGTATGAGGTCCATT GCCTTTTACAATGTTAGTGATGGGTGCCATATCTACACATTCATCGAGAT TCCTGTTTGCGAGCCCTGGCGTCCATTTTTTGCTCATAAACGTGGAAGTC AAGATGATCAGAGCATCCTGAGTATCTGTTCTGTGATCAATCCATCCGCT GCCAGTGCCCCAGTTTCTTCTGAGGGAAAGTAAATAAACATTTGAACATA ATCATCTTTAGGAAGTTTCAGTGCTCCCATAGCCATAGCTAAGAACTTTT CCGCTAGATACACATAGGTACAAAGGGACAGAAGGGAAAGAGCCATCACT CTGTAAACCATGAACAGAAAGCAATTATATTAATGAGGGGAAAATTACAT TGTACTTAAAGTTTGTCATGTTGTTTTCTTTGGGGCTTATGTTTATATTT CTGTTCAATAAATATTTTGAAAATTCAGATTCATTTGCCAATCTTTTCTA TTTTCTGCAAGATTAGTTTACTATGTGTTATGGAAGTTATGAACGAAATA ATAATTTGAATGTGACCCAACACAGTAACTGAATTTCAAATGATAAGGAC CTATGAATACGGCAAAATTATATATGTTCATGTATTCAGTTTAACCCAAT AACTGAACACTGACATTCATTTCAAGTGCACACTGAGTGTTTGCCACGAA TATGTGTGGTCTTAGAGAGAACTCGTTAGCTTTAAAATTGAAATACAATA CACCCTCTCCTATGACGGCAACAGAGTCAAATTGGAAATCAATAACAGGA AGAAATCCATAAATTCTCCACATATATGCAAATTAAATAACCACTTCTAA ATAAAATGATCAAATATGAAATTACAATGGAAATTACAGCTATCCTGAGT TGAATGAAAAGCACACATTTACAAAATTTCTAGATGCGGTTGAAGCTCAG TGAGAAACTCATAATAGGAAGAAAATATCGTAATCAATCACCTTAATTTC TACTTGAACTTACTTCACTAAGAGCAATTCAATTGTCAGCATTTTGATCA AAACCATCTGACAAGTATCTGGGAAGTTCCAGACATTCTCACATCTTCCT GTCTTCTTCTGAGCCCTGCAAACGGTTGCAACCTCTGCCCGTTACCCAGT TCCAAAGTCGCTTCCACATTTTCAGGTACCATAGTAGCAGTGCCTCACTC CTGGTACCAATATTCTGTAACAGTTCATTCTCACACTGCTCTAAAGAACT ACCGGAGACTGGGTAATTTATGAAGAAAAGAGGTTTCATTAATTTATAGT TCTGCAGGTCGCACGGGGAACATCACTGGGTGGCCTCGGGAAATTTAACA ATCATGGAGGAAGGCAGAGGGGAAGCGAGTGGCTTTTTCACATAGTGACA GGAAAGAGAGAAAGAGGAAAGTGCCATCCACTTTGAAATCATCAGATCTT GTGAGAACTCACTCACGGTCATGGGAATAGCGTGGAGGAAATCCGTCCCC GTGATCCAATCATCTCCCACCTGGTCCCTCCCCCAACACTGAGGATGACA ATTCAACATGAGATTTGGCTGGGGACACAGAGCCAAACCGTATCACTTGA TATGATCCCACAGAATACTATTCATTTTCATTCAGTCTTTTATTTCTTAA CAAATGGTGGTAAAGTATATATAATTGACCATCTTAACCATTTTTAAGTG TAAAATTCAATGGTATTTATGATGTCCATATTATTTTGCCACCATCACTG CCATTCATCTCCAGAAATCTTTTCATCTTCCAAAATTGAAACTGTATAGC CATCCTAGCCCTCTTTTAAATTCATCTATTTGTTGTCTCGCCTGAGTGCC TTATGTATTCTGGATGTTAACCCCTTATCGGATGTATGGTTTGCAAATAT CTTCTCCCACTGTGTAGATTGTCTCTTCACCTTATTGTTTCCTTTGTTGT GCAGCAGCTTTTACATGTGATGCGATCCCACTTGTCTCTGTTTGTTTTTG TTGCCTGTGATTTAGGTGGTTATATCAAAAAACAAGTTTGCCCAGACAAA TTTCTTAGATCTTTCCCCCTGTGTTTTGATCTGATAGGTTTACCATTTCA GGTCTTTCATTTAACTCTTTTCTCCGTTTTGAGTTGATTCATGCATGCAG TTTGATGTAAAGATACAATTGCCTTCTTCTATATGTGGATGAGTTCTTCG AGCACAATTTATTGAAGGGGCTGTACTTTCCCCATTTCGTATTGTGGATC CTTTGTCAAAAATCAATTTGCCACATGTGCGCGGGTTTATATGGGAGGTT TCATTCCTGTTTCATTGGTAGAAACGGCTGTTTTTATTCTAGTAGCATGT CGTTTTGATTATACTAGTTTTATAATATATTTTGAAATCAAGTAGTGTGA TGTCTACAGCTGTGAGATTTTTCTGCATATGATTGTTTTAGCTATTTGGG GTCTTTTGTGGCTTCACCCAAATTTTAGGACTTTTTTCTCTTTTTCTGTG AAAAATGAGAATTGTGATTGGGATTGCATTGAATGTGCGGATCCTTTTGA GTGTATAGACATTTTAACAATATTAATTCTAATCCGTGAACATGAGATAT CCTTTTATTTGTGTTTTTGTCAATTTTGTTCATTGCTATTTTATACTTTT TATTGTACAGGTCTTTCTCCTTCTTTACTGAATTTACTCTTGGGTTTGAT TTTCTTATTGTTATTTTAATTGGAATTATTATTATGATATTTGGAGAGAG AGTCTCTCTCTGTTTTCCTGGCTGGAGTGCAGTGCAACGATCTCAGCTCA CTGCAGACTCCTGCCTCAGGCCCCCAAGTAGCTGAGATTACAGGTAGCAG TCACCATGCCCAGCTGATTTTTGTCTCTTTGGTAGAGATAGAGTTTCACC ATTTTGGCCAGGCTGGTCTCGAATTCCTGACCACAAGTGATCTGCCCACT TTGGCCTCCCAATATGCTGGGATTACAGGTGTGAGCCACCATACCTGGCC CGGAATTATTTTTTATTTTCTTTTTTAGATGGTTTATTTACAATTCATAA AAATGCTAAGAATTTTTGTTTGTTGATTTTGTGTCTTGCACCTTCACTGA ATTCATTTATCAGTCCTAACAGAATTTGTTGGAGTTTTTAGGGTTTTCTC TATATAAGATGGTGTCATCGGCAGTGACAATTTCACTTGCCTTGAATTAG ATTTTAATAACATTTATAAAAACAAAAAAGGTGGAAAAACTTCTGTCGAA TCTCTGTAGTGAGTTTTCATTTCAGTTATTTTCCTTTATGCCCCTCAATT TCTAATTAGTTCATTTTTAAAATTTCTATTTGGTTATTGATATTTTCTAT TTTGTGAGGTGTTACTCTTCTAATTTACTTCAGTTCTTTGTCTGTTGTTT CCTTTAGTTCTTTTGGTCCTCCTTCGACAAGTAATTTAGTCTGTAGAGAG GAAGCCCAAGGTCTTGAGCACATTTATTTCATCTTGTGACTTGTAGACAT TCGGTTCTCTTTGTGTGCCTCATTTATTTTGTTGTAAATTGGAAGTGTTC TGTGGCAGATGCAGATCAGATTCTCAAAGTTCACAGGTTTTTTATTGTTA TACTTGTGGGCTGTGGTTTTCTGTTTTTGTTTTGTTTTGTTTGGACTTAA TGAAAGTATTTTGCAAGAGTTCCGTTTTTTCTCCTCTGTGGTCTCAGGTC ATCCTGACTGACACTTCTCCTCACAGAACTTGGTGACTAGACGACCCACG TGAGTGCTTCCTTATATCCTGGACAAAACACAGAACCTAAGGAATCATGA AGAAAAAAATTCAGAGCCACGGTTGGGCAATAACATGACCTGCCTGGTTC TGAGCCACCTCATCCATGTCCCGGCTGGACTGACGGTGGGGCCACGTGCT GGGCAGTGGCTCAGGGTGAGACCACAATGTCCGGGTTCACCTCAAATCCG TTTGCCGTACCAACACTGACAATGAGAGAAAGGATGACAGTTTCCTTTGG AAACTGAGCCAAGCCCTGGGTTGTGAGAAACTCTGAGCTTCTCTTCATTG TTAAAGAAGAAAATGTGGCACATCTACACCATGGAATACTATGCAGCCAT AAAAAAGGATGACTTTATGTTTTCTGCAGGGACGTGGATGAAGCTGGAAA CCATGATTCTCAGCAAACTATCACAAGATTGGAAAACCAAACACGGCATG TTCTCACTCATAAGTAGGAGCTGAACAATGAGAACACATGGGCACAGGGA GAGGAACATCACACACTGGGACCTGTCGGGGGGCGGGGGGTTAGGGGAGG GATAGCATTAGGGAGAAATATCTAATGCAGGTGATGGGTTGATGGGTGCA GCAAGCCCACATGGCACATCTATACCTATGTACCAAACCTGCACGTTCTG CACATGTACCCCAGAACTTAAAGTATAATTAAAAAAAAAGAAAAAGAAAA GTC	T T	transcript_ablation transcript_ablation	HIGH	HG03688.hp1 HG03831.hp2 NA20905.hp2 HG03688.hp1 HG03831.hp2 NA20905.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0000 a0002c0000t0000	a0002c0000t0000g0000 a0002c0000t0000g0000	3	460	0.0065	-10002	c.-17 others(11): Show c.-1791_*4220del	p.0? p.0?	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	3/3						chr19	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0016	a0002c0002 a0002c0008 a0002c0019 others(16): Show a0002c0002 a0002c0008 a0002c0019 a0002c0021 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0011c0023 a0012c0020 a0013c0016 a0014c0017 a0016c0026	a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 a0002c0021t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0011c0023t0001 a0012c0020t0001 a0013c0016t0001 a0014c0017t0001 a0016c0026t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0144 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0001g0224 a0002c0008t0001g0009 a0002c0008t0001g0173 a0002c0008t0001g0174 a0002c0008t0001g0184 a0002c0008t0001g0188 a0002c0019t0001g0225 a0002c0021t0001g0003 a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0024 a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0197 a0003c0009t0001g0002 a0003c0009t0001g0010 a0003c0009t0001g0122 a0003c0012t0001g0034 a0003c0012t0001g0107 a0003c0012t0001g0110 a0003c0015t0001g0002 a0005c0006t0001g0028 a0005c0006t0001g0043 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0083 a0005c0006t0001g0086 a0005c0006t0001g0089 a0005c0006t0001g0169 a0005c0006t0001g0177 a0005c0006t0001g0198 a0005c0006t0001g0215 a0005c0006t0001g0216 a0005c0006t0001g0217 a0005c0006t0001g0218 a0005c0007t0001g0013 a0005c0007t0001g0029 a0005c0007t0001g0078 a0005c0007t0001g0080 a0005c0007t0001g0081 a0005c0007t0001g0163 a0005c0007t0001g0209 a0005c0007t0001g0210 a0005c0007t0001g0211 a0005c0007t0001g0214 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0001g0234 a0007c0011t0001g0053 a0007c0011t0001g0058 a0007c0011t0001g0061 a0007c0011t0001g0062 a0007c0011t0001g0090 a0007c0011t0001g0152 a0007c0014t0001g0028 a0007c0014t0001g0149 a0008c0010t0001g0020 a0008c0010t0001g0189 a0008c0010t0001g0212 a0008c0010t0001g0220 a0008c0022t0001g0181 a0011c0023t0001g0014 a0012c0020t0001g0221 a0013c0016t0001g0141 a0014c0017t0001g0033 a0016c0026t0001g0003	231	436	0.5298	1	c.127 others(5): Show c.1271dupC	p.Asp others(5): Show p.Asp425fs	RHBG	ENSG00000132677.13	transcript	ENST00000537040.6	protein_coding	9/10	1311/1790	1272/1377	424/458		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP3C_chr22_21540666_21556461	21550836	C C	CCAGCCTG others(57): Show CCAGCCTGCCCGCTCCGCCTCCAGCTCCGCCCGTAGCTTCTCCAGCTCCC GCCTCTGGTTCTCCA	frameshift_variant frameshift_variant	HIGH	HG03831.hp2 HG03831.hp2	a0051 a0051	a0051c0100 a0051c0100	a0051c0100t0001 a0051c0100t0001	a0051c0100t0001g0000 a0051c0100t0001g0000	1	200	0.0050	64	c.77_ others(70): Show c.77_140dupTGGAGAACCAGAGGCGGGAGCTGGAGAAGCTACGGGCGG AGCTGGAGGCGGAGCGGGCAGGCTG	p.Trp others(4): Show p.Trp47fs	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding	1/1	625/5796	140/4920	47/1639			chr22	TogoVar
RPL28_chr19_55380932_55397085	55388029	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18977.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0031 a0002c0002t0039 a0002c0002t0051 a0002c0002t0052	a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 a0002c0002t0005g0001 a0002c0002t0006g0002 a0002c0002t0007g0003 a0002c0002t0007g0008 a0002c0002t0008g0001 a0002c0002t0009g0009 a0002c0002t0009g0019 a0002c0002t0010g0001 a0002c0002t0011g0001 a0002c0002t0016g0001 a0002c0002t0022g0001 a0002c0002t0031g0008 a0002c0002t0039g0001 a0002c0002t0051g0001 a0002c0002t0052g0011	55	309	0.1780	1	c.307 others(4): Show c.307dupC	p.Arg others(5): Show p.Arg103fs	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding	4/5	350/4209	308/414	103/137		INFO_REALIGN_3_PRIME	chr19	TogoVar
SBK2_chr19_55523611_55542133	55530084	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(32): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG01074.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01928.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02572.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03209.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18980.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19009.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0017 others(1): Show a0003c0003 a0003c0007 a0003c0017 a0003c0025	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0026 a0003c0003t0028 a0003c0007t0003 a0003c0007t0004 a0003c0007t0016 a0003c0017t0001 a0003c0025t0003	a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 others(29): Show a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 a0003c0003t0001g0072 a0003c0003t0001g0084 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0156 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0208 a0003c0003t0001g0230 a0003c0003t0002g0069 a0003c0003t0002g0140 a0003c0003t0002g0231 a0003c0003t0003g0067 a0003c0003t0003g0121 a0003c0003t0003g0124 a0003c0003t0003g0126 a0003c0003t0005g0135 a0003c0003t0006g0041 a0003c0003t0013g0219 a0003c0003t0014g0115 a0003c0003t0017g0239 a0003c0003t0026g0221 a0003c0003t0028g0218 a0003c0007t0003g0122 a0003c0007t0004g0150 a0003c0007t0004g0202 a0003c0007t0016g0203 a0003c0017t0001g0089 a0003c0025t0003g0078	35	432	0.0810	1	c.695 others(4): Show c.695dupC	p.Pro others(5): Show p.Pro233fs	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	4/4	777/2251	695/1047	232/348			chr19	TogoVar
SCRIB_chr8_143785925_143820773	143792383	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG01099.hp1 HG01109.hp2 others(7): Show HG00544.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01978.hp2 HG02055.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp1	a0005 a0008 a0018 a0005 a0008 a0018	a0005c0046 a0005c0051 a0005c0052 others(5): Show a0005c0046 a0005c0051 a0005c0052 a0005c0060 a0005c0061 a0005c0073 a0008c0015 a0018c0037	a0005c0046t0001 a0005c0051t0001 a0005c0052t0001 others(5): Show a0005c0046t0001 a0005c0051t0001 a0005c0052t0001 a0005c0060t0001 a0005c0061t0001 a0005c0073t0001 a0008c0015t0001 a0018c0037t0001	a0005c0046t0001g0204 a0005c0051t0001g0082 a0005c0052t0001g0134 others(7): Show a0005c0046t0001g0204 a0005c0051t0001g0082 a0005c0052t0001g0134 a0005c0060t0001g0146 a0005c0061t0001g0149 a0005c0073t0001g0222 a0008c0015t0001g0182 a0008c0015t0001g0185 a0008c0015t0001g0189 a0018c0037t0001g0173	10	386	0.0259	1	c.435 others(10): Show c.4350_4351insG	p.Pro others(6): Show p.Pro1451fs	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	32/37	4751/5607	4350/4968	1450/1655			chr8	TogoVar
SCRN3_chr2_174390730_174434575	174427852	TTCAAATT others(6): Show TTCAAATTTATCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(84): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0008 a0002c0002 a0002c0004 a0009c0008	a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 others(2): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0004t0002 a0009c0008t0002	a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 others(47): Show a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0004g0006 a0002c0002t0004g0024 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0004g0086 a0002c0002t0012g0011 a0002c0004t0002g0012 a0002c0004t0002g0025 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0002g0075 a0002c0004t0002g0076 a0002c0004t0002g0077 a0002c0004t0002g0078 a0002c0004t0002g0079 a0002c0004t0002g0081 a0009c0008t0002g0146	87	362	0.2403	-13	c.125 others(22): Show c.1251_1263delTTTATCAGTCAAA	p.Asn others(5): Show p.Asn417fs	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	8/8	1348/3052	1251/1275	417/424		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOP_chr5_42794880_42816892	42811835	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	394	0.0025	0	c.-14 others(5): Show c.-14+1G>T		SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding	1/4					WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SERPINA10_chr14_94275460_94298268	94290332	G G	A A	stop_gained stop_gained	HIGH	HG03831.hp2 HG03831.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0005 a0016c0016t0005	a0016c0016t0005g0039 a0016c0016t0005g0039	1	420	0.0024	0	c.262 others(3): Show c.262C>T	p.Arg others(3): Show p.Arg88*	SERPINA10	ENSG00000140093.10	transcript	ENST00000261994.9	protein_coding	2/5	392/4970	262/1335	88/444			chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392			chr18	TogoVar
SFXN3_chr10_101026234_101046241	101039215	C C	T T	stop_gained stop_gained	HIGH	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0004 a0005c0006t0011g0004	1	442	0.0023	0	c.862 others(3): Show c.862C>T	p.Gln others(4): Show p.Gln288*	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding	11/12	1335/3095	862/966	288/321			chr10	TogoVar
SHOX_chrX_625791_656584	634742	A A	ACTCTTCG others(58): Show ACTCTTCGACGAGACCCATTACCCCGACGCCTTCATGCGCGAGGAGCTCA GCCAGCGCCTGGGGCT	frameshift_variant frameshift_variant	HIGH	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0141 a0002c0003t0141	a0002c0003t0141g0064 a0002c0003t0141g0064	1	218	0.0046	65	c.406 others(72): Show c.406_470dupTTCGACGAGACCCATTACCCCGACGCCTTCATGCGCGA GGAGCTCAGCCAGCGCCTGGGGCTCTC	p.Glu others(5): Show p.Glu158fs	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/5	578/7934	471/879	157/292		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 a0003c0006t0001g0145 a0003c0006t0001g0154 a0003c0006t0004g0014 a0003c0007t0002g0009 a0003c0009t0002g0015 a0003c0009t0002g0146 a0003c0011t0002g0044 a0003c0011t0002g0045 a0003c0011t0002g0147 a0003c0011t0002g0153 a0003c0013t0001g0149 a0003c0013t0001g0152 a0003c0013t0003g0150 a0003c0013t0003g0151 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0026t0002g0160 a0003c0026t0002g0161 a0003c0027t0001g0158 a0003c0027t0001g0159 a0003c0048t0001g0139 a0003c0049t0004g0142 a0003c0050t0001g0141 a0003c0051t0003g0148 a0003c0052t0002g0157	53	430	0.1233	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595			chr19	TogoVar
SLC22A10_chr11_63284903_63316783	63290453	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0009 a0002c0012 others(4): Show a0002c0002 a0002c0009 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0011c0019t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0171 a0002c0002t0003g0027 a0002c0002t0003g0137 a0002c0002t0007g0038 a0002c0002t0007g0083 a0002c0002t0009g0004 a0002c0002t0009g0118 a0002c0009t0002g0025 a0002c0012t0002g0060 a0002c0013t0002g0124 a0002c0014t0002g0010 a0002c0015t0002g0107 a0011c0019t0002g0042	162	400	0.4050	0	c.288 others(3): Show c.288G>A	p.Trp others(3): Show p.Trp96*	SLC22A10	ENSG00000184999.13	transcript	ENST00000332793.11	protein_coding	1/10	551/2638	288/1626	96/541			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0012 a0013	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0002c0002 a0002c0015 a0005c0006 a0005c0016 a0007c0009 a0008c0012 a0012c0020 a0013c0014	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(13): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0002c0002t0001 a0002c0015t0001 a0005c0006t0002 a0005c0006t0004 a0005c0016t0002 a0007c0009t0001 a0007c0009t0006 a0008c0012t0001 a0012c0020t0001 a0013c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0001g0253 a0001c0005t0001g0305 a0001c0005t0001g0311 a0001c0005t0001g0312 a0001c0005t0001g0316 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0005t0001g0329 a0001c0007t0001g0244 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0272 a0001c0007t0001g0274 a0001c0007t0001g0277 a0001c0007t0001g0304 a0001c0007t0001g0309 a0001c0007t0001g0315 a0001c0007t0001g0317 a0001c0011t0001g0331 a0001c0011t0001g0332 a0001c0011t0001g0333 a0001c0011t0001g0334 a0001c0021t0001g0140 a0001c0022t0001g0154 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0314 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0340 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0015t0001g0092 a0005c0006t0002g0068 a0005c0006t0002g0069 a0005c0006t0002g0070 a0005c0006t0002g0073 a0005c0006t0002g0077 a0005c0006t0002g0078 a0005c0006t0002g0079 a0005c0006t0002g0080 a0005c0006t0002g0081 a0005c0006t0002g0082 a0005c0006t0002g0083 a0005c0006t0002g0084 a0005c0006t0002g0085 a0005c0006t0002g0086 a0005c0006t0004g0002 a0005c0016t0002g0027 a0007c0009t0001g0093 a0007c0009t0001g0094 a0007c0009t0001g0095 a0007c0009t0001g0096 a0007c0009t0001g0097 a0007c0009t0006g0353 a0008c0012t0001g0090 a0008c0012t0001g0091 a0012c0020t0001g0313 a0013c0014t0001g0089	267	364	0.7335	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552			chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0011 a0015 a0016	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0020 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0011c0019 a0015c0016 a0016c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0020t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0011c0019t0001 a0015c0016t0001 a0016c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0068 a0002c0004t0001g0070 a0002c0007t0001g0007 a0002c0007t0001g0069 a0002c0017t0001g0067 a0002c0020t0001g0037 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0057 a0006c0011t0001g0030 a0006c0011t0001g0061 a0006c0023t0001g0062 a0011c0019t0001g0071 a0015c0016t0001g0031 a0016c0024t0001g0072	172	426	0.4038	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446			chr16	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0004c0008 a0006c0006 a0007c0007 a0008c0012 a0010c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0004c0008t0001 a0006c0006t0001 a0007c0007t0001 a0008c0012t0001 a0010c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0004c0008t0001g0001 a0006c0006t0001g0001 a0007c0007t0001g0001 a0008c0012t0001g0001 a0010c0014t0001g0001	316	410	0.7707	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338			chr17	TogoVar
SLFN13_chr17_35430096_35453766	35445639	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0023 others(6): Show a0002c0002 a0002c0014 a0002c0023 a0002c0024 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(17): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0021 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0057 a0002c0002t0059 a0002c0002t0060 a0002c0014t0002 a0002c0014t0003 a0002c0023t0014 a0002c0024t0001 a0002c0024t0005 a0002c0039t0003 a0002c0040t0003 a0002c0041t0003 a0002c0042t0003 a0002c0043t0003	a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 a0002c0002t0003g0125 a0002c0002t0003g0184 a0002c0002t0003g0204 a0002c0002t0004g0188 a0002c0002t0011g0016 a0002c0002t0021g0037 a0002c0002t0021g0203 a0002c0002t0051g0202 a0002c0002t0052g0192 a0002c0002t0054g0193 a0002c0002t0057g0189 a0002c0002t0059g0194 a0002c0002t0060g0185 a0002c0014t0002g0195 a0002c0014t0003g0028 a0002c0014t0003g0084 a0002c0014t0003g0169 a0002c0023t0014g0059 a0002c0024t0001g0196 a0002c0024t0005g0190 a0002c0039t0003g0187 a0002c0040t0003g0168 a0002c0041t0003g0191 a0002c0042t0003g0197 a0002c0043t0003g0198	59	454	0.1300	0	c.42C others(2): Show c.42C>A	p.Tyr others(3): Show p.Tyr14*	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	3/6	247/8398	42/2694	14/897			chr17	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0132 a0001c0001t0005g0028 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0006g0006 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0003 a0001c0001t0007g0067 a0001c0001t0010g0151 a0001c0001t0011g0024 a0001c0001t0011g0120 a0001c0001t0013g0064 a0001c0001t0013g0069 a0001c0001t0013g0075 a0001c0001t0014g0068 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0015g0022 a0001c0001t0015g0076 a0001c0001t0016g0077 a0001c0001t0016g0078 a0001c0001t0017g0070 a0001c0001t0017g0072 a0001c0001t0018g0015 a0001c0001t0020g0117 a0001c0001t0026g0005 a0001c0001t0027g0115 a0001c0001t0028g0063 a0001c0001t0029g0062 a0001c0001t0030g0003 a0001c0001t0031g0107 a0001c0001t0032g0071	140	282	0.4965	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0043 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0079 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0130 a0001c0006t0076 a0001c0007t0003 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 others(81): Show a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0315 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0004g0207 a0001c0001t0004g0234 a0001c0001t0004g0272 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0119 a0001c0001t0006g0172 a0001c0001t0006g0183 a0001c0001t0007g0164 a0001c0001t0007g0317 a0001c0001t0008g0193 a0001c0001t0009g0165 a0001c0001t0009g0175 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0277 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0337 a0001c0001t0012g0285 a0001c0001t0012g0329 a0001c0001t0013g0258 a0001c0001t0013g0259 a0001c0001t0013g0263 a0001c0001t0013g0264 a0001c0001t0013g0276 a0001c0001t0017g0126 a0001c0001t0019g0325 a0001c0001t0019g0330 a0001c0001t0019g0332 a0001c0001t0019g0333 a0001c0001t0019g0335 a0001c0001t0022g0133 a0001c0001t0022g0186 a0001c0001t0023g0118 a0001c0001t0023g0141 a0001c0001t0024g0343 a0001c0001t0024g0344 a0001c0001t0024g0347 a0001c0001t0025g0173 a0001c0001t0033g0342 a0001c0001t0034g0115 a0001c0001t0034g0177 a0001c0001t0039g0116 a0001c0001t0039g0132 a0001c0001t0043g0336 a0001c0001t0052g0359 a0001c0001t0056g0181 a0001c0001t0058g0341 a0001c0001t0065g0012 a0001c0001t0067g0128 a0001c0001t0069g0143 a0001c0001t0071g0139 a0001c0001t0079g0275 a0001c0001t0091g0331 a0001c0001t0092g0266 a0001c0001t0093g0274 a0001c0001t0096g0265 a0001c0001t0130g0243 a0001c0006t0076g0334 a0001c0007t0003g0142 a0002c0002t0001g0228	84	182	0.4615	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3471678	GCA GCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show HG00140.hp2 HG00733.hp1 HG01358.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0012 others(1): Show a0001c0001 a0002c0002 a0006c0012 a0009c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0012t0002 a0009c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0002c0002t0001g0021 a0002c0002t0001g0057 a0002c0002t0002g0050 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0006c0012t0002g0277 a0009c0010t0001g0083	49	418	0.1172	-2	c.-74 others(13): Show c.-74+2_-74+3delTG		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	1/8						chr17	TogoVar
SPATA31C1_chr9_87912962_87928657	87923373	C C	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01358.hp2 HG01361.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02083.hp1 HG02602.hp2 HG03017.hp2 HG03239.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18947.hp1 NA18950.hp1 NA18969.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19084.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0005 a0019 a0029 others(1): Show a0005 a0019 a0029 a0030	a0005c0005 a0005c0031 a0019c0028 others(2): Show a0005c0005 a0005c0031 a0019c0028 a0029c0048 a0030c0037	a0005c0005t0001 a0005c0031t0001 a0019c0028t0003 others(2): Show a0005c0005t0001 a0005c0031t0001 a0019c0028t0003 a0029c0048t0001 a0030c0037t0001	a0005c0005t0001g0002 a0005c0005t0001g0016 a0005c0031t0001g0002 others(3): Show a0005c0005t0001g0002 a0005c0005t0001g0016 a0005c0031t0001g0002 a0019c0028t0003g0004 a0029c0048t0001g0002 a0030c0037t0001g0002	42	386	0.1088	0	c.346 others(4): Show c.3466C>T	p.Arg others(5): Show p.Arg1156*	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding	4/4	3495/3779	3466/3567	1156/1188			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88129634	A A	G G	stop_lost stop_lost	HIGH	HG02683.hp2 HG03491.hp2 HG03492.hp2 others(2): Show HG02683.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03831.hp1	a0001 a0020 a0027 a0001 a0020 a0027	a0001c0003 a0001c0009 a0020c0022 others(1): Show a0001c0003 a0001c0009 a0020c0022 a0027c0049	a0001c0003t0003 a0001c0009t0003 a0020c0022t0003 others(1): Show a0001c0003t0003 a0001c0009t0003 a0020c0022t0003 a0027c0049t0003	a0001c0003t0003g0068 a0001c0009t0003g0066 a0020c0022t0003g0035 others(1): Show a0001c0003t0003g0068 a0001c0009t0003g0066 a0020c0022t0003g0035 a0027c0049t0003g0102	5	444	0.0113	0	c.340 others(4): Show c.3403T>C	p.Ter others(12): Show p.Ter1135Glnext*?	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	4/4	3432/3761	3403/3405	1135/1134			chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34893048	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18989.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043	43	432	0.0995	-1	c.355 others(4): Show c.355delG	p.Ala others(5): Show p.Ala119fs	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/5	397/967	355/627	119/208			chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46183535	GGGAGACC others(275): Show GGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTG GTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGC CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGA CCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGG AGACCAGCCTGGTGAGGAGACCAGCCTGGGGGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG03492.hp1 HG03831.hp2 HG04228.hp2 others(1): Show HG03492.hp1 HG03831.hp2 HG04228.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0040 a0001c0001t0014g0042 a0001c0001t0015g0041 others(1): Show a0001c0001t0014g0040 a0001c0001t0014g0042 a0001c0001t0015g0041 a0001c0001t0015g0043	4	250	0.0160	-282	c.-95 others(12): Show c.-958-43_-720del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				720		chr21	TogoVar
SRSF3_chr6_36589362_36610600	36601940	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01074.hp1 HG01516.hp1 HG02647.hp2 others(5): Show HG01074.hp1 HG01516.hp1 HG02647.hp2 HG03688.hp2 HG03831.hp1 NA18940.hp1 NA18997.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0024 others(2): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033	a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0144 others(5): Show a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0013g0102 a0001c0001t0024g0031 a0001c0001t0032g0103 a0001c0001t0033g0097	8	252	0.0317	2	c.468 others(13): Show c.468-4_468-3dupTT		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
ST6GAL2_chr2_106796600_106891167	106843196	A A	ACG ACG	frameshift_variant frameshift_variant	HIGH	HG01169.hp2 HG01934.hp1 HG01993.hp2 others(5): Show HG01169.hp2 HG01934.hp1 HG01993.hp2 HG02738.hp2 HG03654.hp1 HG03831.hp1 NA18981.hp1 NA18987.hp1	a0007 a0011 a0007 a0011	a0007c0014 a0007c0015 a0007c0028 others(3): Show a0007c0014 a0007c0015 a0007c0028 a0007c0029 a0011c0022 a0011c0023	a0007c0014t0008 a0007c0014t0018 a0007c0015t0088 others(5): Show a0007c0014t0008 a0007c0014t0018 a0007c0015t0088 a0007c0015t0100 a0007c0028t0001 a0007c0029t0003 a0011c0022t0002 a0011c0023t0012	a0007c0014t0008g0283 a0007c0014t0018g0024 a0007c0015t0088g0239 others(5): Show a0007c0014t0008g0283 a0007c0014t0018g0024 a0007c0015t0088g0239 a0007c0015t0100g0038 a0007c0028t0001g0171 a0007c0029t0003g0056 a0011c0022t0002g0197 a0011c0023t0012g0359	8	369	0.0217	2	c.780 others(9): Show c.780_781dupCG	p.Val others(5): Show p.Val261fs	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	2/6	913/6800	781/1590	261/529			chr2	TogoVar
STAG2_chrX_123956706_124107656	124061743	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01123.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18969.hp1 NA18975.hp2 NA18983.hp1 NA19000.hp1 NA19011.hp2 NA19064.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(37): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0183 a0001c0001t0002g0260 a0001c0001t0004g0022 a0001c0001t0004g0032 a0001c0001t0004g0035	40	148	0.2703	3	c.153 others(16): Show c.1535-5_1535-3dupTTT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	16/34					INFO_REALIGN_3_PRIME	chrX	TogoVar
SULT1C3_chr2_108234968_108265886	108259008	AAAACTTG others(15): Show AAAACTTGGTCAGGTGATGTTAT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0003 a0014 a0016 a0003 a0014 a0016	a0003c0002 a0003c0027 a0014c0021 others(1): Show a0003c0002 a0003c0027 a0014c0021 a0016c0017	a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 others(2): Show a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 a0014c0021t0002 a0016c0017t0004	a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 others(19): Show a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0032 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0027t0004g0009 a0014c0021t0002g0001 a0016c0017t0004g0002	55	374	0.1471	-22	c.669 others(29): Show c.669_690delTTGGTCAGGTGATGTTATAAAC	p.Trp others(5): Show p.Trp224fs	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/8	792/1244	669/915	223/304		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYT15_chr10_46574128_46597064	46583722	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02886.hp2 HG03225.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA19043.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0004 a0003c0013 a0008c0018	a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0001c0009t0002 a0002c0004t0002 a0003c0013t0003 a0008c0018t0003	a0001c0001t0020g0057 a0001c0002t0001g0034 a0001c0002t0002g0006 others(19): Show a0001c0001t0020g0057 a0001c0002t0001g0034 a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0031 a0001c0002t0002g0067 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0013g0088 a0001c0002t0013g0089 a0001c0009t0002g0105 a0002c0004t0002g0012 a0002c0004t0002g0075 a0002c0004t0002g0085 a0002c0004t0002g0086 a0003c0013t0003g0097 a0008c0018t0003g0096	42	284	0.1479	1	c.652 others(6): Show c.652-3dupC		SYT15	ENSG00000204176.14	transcript	ENST00000374321.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr10	TogoVar

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