Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SOX11_chr2_5687384_5706385	5705454	GGAGAAGC others(924): Show GGAGAAGCTGGGGGTACCAGGTTGGAAGAACAGGGGAGGCAGGGATGTAG AAGCTGCAAGGACCAGGGTGGAGGAGCTAGGGGAGTAGGGGTGGAGGAGC CGGTGAGAAAGGGGTGGAGGAGTAGGGGATGCCAGGGTGGAGGAGTTGAG GAGAATGGGGTGGAGGAGCAGGGGAAGCAGGGGTGGAGGAGCTGGGGTGG CCGAGGTGGAGGAGCAGGGGAGGCCAGGGTGGAGGAGCCGAGAAGGGGTG GAGCTGGGGAGGCCGGGGTGAAGGAGTTGGGGGGACTTGGATGGAGGAGC AAGGGAGGCAGGGGTGGAGGACCTGAGAAGGGGTGGAGTTTGGGAGTCTG GGGAGGAGGAGCTGGGGAGGTCAGGGTGGAAGAGTTGAGACCTAGCTGGA GGAGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGGAGGAGCTGGGAGACC AGGGTAGAGGAGTTGAGGAGGCCGGGGTGGAGGAATTGGGGAGGCTGGAG TGGAGGAGCAGGGGAGAAAGGGGTGGAGGAAAAGGGGAAGAAGGGGTGGA GGAGGAGGGGAGGCAGGGGTGGAGCTGGGGGGACCGGGGTGGAGGAGCTG GGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGG CTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGG TAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGG AGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAG GGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGC TGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGT GGAGGAGCAGGGAGACTGGGGTGGAGAAGCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0102 a0001c0001t0110 others(1): Show a0001c0001t0042 a0001c0001t0102 a0001c0001t0110 a0001c0001t0161	a0001c0001t0042g0000 a0001c0001t0102g0000 a0001c0001t0110g0000 others(1): Show a0001c0001t0042g0000 a0001c0001t0102g0000 a0001c0001t0110g0000 a0001c0001t0161g0000	5	434	0.0115	-931	c.11 others(13): Show c.11408_*12338del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4070		chr2	TogoVar
TBCA_chr5_77686166_77781339	77748282	GTTCTGGC others(924): Show GTTCTGGCTCTACCAGTAATTAGCTGGGTAATCCTGAGCAAACTAATTAC CACCTACTTCTCTTGTCTATTTCTGCGTGTGTGTGGAGAGAGAGATATGG AGGGGGAGAGAGGAATATGGGGGAGGGAGAGACTCAGAGACAGAAAATGA GAATATCTAAGAATCTCTAAGGGATACTTCATCAGCTCTACGATTTAGTT TTGCTTTTTTTTTTTAAGATTTTCTCCTTTTAGAACTATATTCAAAGTGA AATTAATTTAAATGGGTTAGCATCTCTGCCGGCCTAATTTGTTCTTATCT TAAAATTTACAATGATGTAGAAAGTACTTTCCTAAAAAAGCTAAACATAC TTGGGCATTGCCACTTCTTGTACAGTTGACCCTTAAACAATGGAGACAGA ATAGAAGTGCTGACCCTCCTAATGTTTGAAAATCTGCATAAAATTTTTGA CTCCCCAAAAACTTTACTGATAACCTACTGTGGACCAGAAGCCTTACCAA TAACATAAAGTCAATTAACACATATTTTGTACGTTATATGTATTACATGC TGTATTCTTACAATAAAATAATCTGGAGAAAAAATATTAAGACAATCATA AGGAAGAGAAAATACATTTACAGTATTGTACTGTGTTTACCAACACCTTA AGTTTATGTTGCCTGTTTACAAGAGGAACCATCTGCCTGAAATGGTGGCA AATGCAGCCACAGACCTCAATCTACAGGTACGTATCAAGCAATTCAACTT TTTCTTGTAATGTCATGACTTTTCTCTGCTTCTTTGGGGCACTTTCAGCA CCACTAGTGGGTCCCATGGTGTTATTCAAGATTTACATTCAAGGTTTACA TTATTGCACTAAACACAAAAAATACATGAGAACCGCGAGAGATCACTTTT TAATGTTAAAACACAATTTACTGAAGAGATGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	354	0.0028	-931	c.53+ others(17): Show c.53+26992_53+27922del	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
ZC3H4_chr19_47059187_47118776	47070058	GCAGGCTC others(924): Show GCAGGCTCGGCGACGCCTCCTGCATGTTGCGTGTGTGACACATGTGAGCA TGGGAGACATCGAATCACCGAAACGGAGGGGGGGGCGTCTGGAGTCAGTG CTGCCCCACAGAACGCTCTGCAGTGATGGAAATGTTCTAGATCTGCAGGG CAACATGTGGCCGCCTAGATCCTCCTGGGGCAGCTGAGCATTTAAAACGT GGTGTCTAGAAAAGTGCACTTGTAACTTAGCTTACATTAATTTCAACTTC GTCAAGTGAACCTGATGGGCCAGCCTGCTCTATGACACATCCCAGCGCAG AGCTGGGACCCACTCCATGAACCAGACAGCCGAGGGTCCCCCTTCACACA CAGTCTGTGCACACACCAGAAACCAATGACCATACATGTTAGAGGGAGGA TTTTATGAAATGGGATTATTCTAGAGACACCTACTGCTACCAACGTGACG GACTTCTGGTGCCCCGCCAGCAGAGCTTTTCCCGTGCACCTTTTAGACGC ATTTGTTGAAGGGGGAGGAGCTGAGAACCCCAGCACCTACTGTGGCAGCC TGTTTTTCTCGTCTTTCTTTCTAAAGCACCCACTCTCACCCAAGTACCTG CTCTCCCAGGTCCATGCACCACCTAAAGCCAAAGCCCACGTTCACATTTT GATCTCTAGCCTGGGCCTCTCCCAATGCCCCTTAAACCACCCCCTCAAAA TTTCCACATGGCCGTCGGAGGGGCAGGCACCCTAGAGTGACTATGCCGCA CGTCCAGCGCCCCATCCTCAATGCCGCTCCTGCCCACCTTGCAAAACAAA CACGGGGCTCCCACTGCCCCACGGCACCGTGTCCAAACCTCGAAGCCCTG CCTTGCACTCCAGTGGCCGCCCTGCTGCCTCTGCCCAGGGACAGCCCCCA GCAGCTGCCACAGCAGCTCCCCCAGTTCAACA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	360	0.0028	-931	c.214 others(17): Show c.2146+789_2147-716del	ZC3H4	ENSG00000130749.10	transcript	ENST00000253048.10	protein_coding	13/14			chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393649	GGGGGCAG others(924): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0174 a0002c0003t0174	a0002c0003t0174g0094 a0002c0003t0174g0094	1	346	0.0029	-931	c.181 others(21): Show c.1811-14277_1811-13347del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AHRR_chr5_316714_443285	356724	GGAGTGGA others(923): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCG ACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02886.hp1 others(4): Show HG01099.hp2 HG01891.hp1 HG02886.hp1 HG03139.hp1 HG03486.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022 a0001c0001t0027 a0001c0001t0050	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(4): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 a0001c0001t0013g0154 a0001c0001t0022g0238 a0001c0001t0027g0153 a0001c0001t0050g0155	7	268	0.0261	-930	c.244 others(17): Show c.244+2861_244+3790del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(923): Show GTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02293.hp2 NA18943.hp1 HG01928.hp2 HG02293.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0100 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0100	3	378	0.0079	-930	c.305 others(17): Show c.305-2067_305-1138del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
INSR_chr19_7107265_7299414	7258351	CAGTGGCC others(923): Show CAGTGGCCTATGATCACCCCACTGCACTCCAGCCCAGGCGACAGAGTGAG ACCCCATCTCTAAAAATAAAAATAAAATAAAAAATTCTTAGCTCATAGGT CATACAAAAATAGCAGCTGGCGGACTGGATTTGGCCCACAGGTCGTAGTT TGCTGATCACTGGGCAAAGGCCTTACGTCAGACAAGTCTGAAGTCAAACC ATTCCCCAGCTAGGTCTCCTAGAGCAAGTCTCATAATTCCTAGCCATGCC TCAGTTCCCTCTTCTGTAAAATGAGGATAACAAACCCTCATAGGCTGTGA TGGGATCCCCTAAGGCATTGCTTAGCACATAGTAAGTGCTCAGTAAACAC TAGCTATTGATGAGTGTTAAGGATGTCATTGTCAACTGTGAGCCAGGTAC TATGACAGGTGCTTGAGATACAACAAAGTCCCTGCCTTCAGGAGAGCTTA GTCTGATAGGAGAGGCCCTAAGTCAAGACAGAATGAGAAGGCTGATAAGA AGAGGCAACACACATGTTGGCAGGGGCAAATTCTAGATTTCCTCTCCAGT TTCTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCTTTCCTTCTTCCT TCCTTCCTTCCCTCCTTCCTTTTTTTCTTTCCTCCTTCCTTCCTTCACTC CTTCTTTCATTTCTCCTTCCCTCCTTTCCTTCCCTCCTTCCTTCCTTTCT TTCTTCCTTCCTTTCTCCTTCCCTCCTTCTTTCCTTCCCGCCTTCCCTCC TTCCTTCCTTCCTTTCTTTCCTTTTATTTCTTCCCTCCTTCCTTTTTTCC TTCCTTTTCTTTTCTTTCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTTCTTTTTACAGTTTCCTGCATTTCACCAACTTCCCGCAATGACATCTA TAAGACACAAAGGTAAAGAGCTTGGATTCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01070.hp1 others(16): Show HG00323.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01884.hp1 HG02486.hp2 HG02559.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG04184.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0038 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0038 a0001c0001t0081 a0001c0001t0111 a0001c0002t0007 a0001c0002t0016 a0001c0002t0152 a0001c0003t0134 a0001c0003t0162 a0001c0004t0001 a0001c0005t0019 a0001c0006t0065 a0001c0006t0075 a0001c0008t0027 a0001c0008t0146 a0001c0018t0072	a0001c0001t0001g0210 a0001c0001t0004g0106 a0001c0001t0038g0182 others(16): Show a0001c0001t0001g0210 a0001c0001t0004g0106 a0001c0001t0038g0182 a0001c0001t0081g0165 a0001c0001t0111g0202 a0001c0002t0007g0203 a0001c0002t0016g0105 a0001c0002t0152g0218 a0001c0003t0134g0157 a0001c0003t0162g0293 a0001c0004t0001g0150 a0001c0005t0019g0033 a0001c0005t0019g0045 a0001c0006t0065g0011 a0001c0006t0075g0084 a0001c0008t0027g0085 a0001c0008t0027g0086 a0001c0008t0146g0118 a0001c0018t0072g0079	19	300	0.0633	-930	c.652 others(17): Show c.652+8064_652+8993del	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
LRCH1_chr13_46548170_46749898	46707161	TTGATTGT others(923): Show TTGATTGTCAGGTATCTATAACCTTCTTTTATCTGGAACATTTCCATGAC CTTTCTTTGATTTTTATGACCTTGAAATTTTGAGGAACACAAACCTCCTC CTTTTTAATAGAATGTTCCTCATTTTGTGTCTGTCTAATGTTTCCTTATC AGTTTGAACTTCTGCATTCTGATTTCGAATACTGCACAGGTGATGTTGTG ACCATCTCAGGGCATCACATTTGGGGCCACACACTATGTCCATCTTTCCC TCTTTGGTGATGTTAATTTATCACCCAATCAAGATATAAGTCCATTTCTC CACCGTGTAATTGCTGTTTTATTTTTTCGTTGCAACTAACAAGCAGTCTG TGACAAGATAGTTCAAGACCATCTTAGCATCCAGCTGCAGACCCACTTTT GACTCTAGTAAAATAGATGGCCACCTGTTTGCATGATTTCAGGAGCACAA GAAAGACACAAAGCTTCTGGAATAAAGATATATCCCCTCCATTTTTAATA CACAATTGGATGGTCATTCCAATAATTTTGTCTTCTAAGATGTATATATT CCTGAATTTTTTTTAAAAAGGAAGTATTGTTACATGCCAGATCATGTGCT TTGTATATTACATAAGTTATCGTTATTTCATTTCTTCAATAAATATTCGT TGATTGCCTCCCATGTGTCAAGCACCACTCTGGACACTGAGAAAGTAGCA TTAAAGACACAGAGGTCCTACACTTACGAGTTTACATTCTAGGTAAAGGT ATAAGTGAAAAGTGCATCCTGAGTGATGATGCAGGATTTGAAGCTCAAGG TCAAGTGACTGGCCAGTTCAGTTACATGTAAAAGGCGTGGCCCTGCTTTC CCACTGTGGTATATTGCCTCTTCATGCTGTAGACTAGTGGCAGCACTAAG TCTTGTCATGCTTACAAACCTTAGTGATGCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	274	0.0037	-930	c.152 others(19): Show c.1527+1864_1527+2793del	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
RAB40C_chr16_585066_634268	611764	CAGGGACA others(923): Show CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCT TCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAA GAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCC GCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGAC AGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGT AGCATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGG GACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCC TGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCA GGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGG CCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAG CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAG AGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGC CCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAAT CAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTA GAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGG ACAGCTGCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(49): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02129.hp2 HG02145.hp1 HG02280.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18940.hp1 NA18963.hp1 NA18967.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19083.hp2 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030	a0001c0001t0001g0227 a0001c0001t0003g0014 a0001c0001t0003g0174 others(48): Show a0001c0001t0001g0227 a0001c0001t0003g0014 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0005g0213 a0001c0001t0005g0224 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0006g0032 a0001c0001t0015g0107 a0001c0001t0029g0188 a0001c0001t0030g0204	52	350	0.1486	-930	c.143 others(17): Show c.143-5408_143-4479del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(923): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18971.hp1 NA18986.hp2 others(1): Show HG03669.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0216 a0001c0002t0001g0115	4	340	0.0118	-930	c.915 others(17): Show c.915+1169_915+2098del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAD3_chr15_67060602_67200169	67112336	TTTTTAGT others(923): Show TTTTTAGTAGAGATGAGGTTTCACCGTGTTGGTCAAGCTGGTCTTGAACT CCTGACCTCAGGTGATCCACACGCCTTGGCCTCCCAAAGTGCTGGGATGA TAGGCGTGAGCCACCACACCCGGCTAGCCATTTCTAATTGGGTTGTCTTT CTACTGTTGAATTATAAGAGTTCCTTATATATTCTGGATATAAATTCCTT TATCAGATACATGGTTTGCAAATATTTTCTTCCATTTTATTTCTTTCAAT TCTGTGGGTTGTTTTTTCACTCTCTTGATGGTGTTTTTTGAAGCACAAAA GTTTTTAATTCTGATGAAGCTAAATTTGTTTTACTTTCGTCACTTTTGCT TTTTGTGTTGTATCTAAGAAACTGTTGCTTAATCCAGGGTCACAAAAATT TACTCCCTTGCATTCTTCTAAGAGTTTTATAATTTTAGCTCTTATATTTA GGTCTTTGATCCATCTTGACCTGATTTTTGTATAAGATGTGAGGTAGGGG TTCAACTTCATTCTTTTGCATGTGAATATCCAGATGTCCATGCACTGTTT GTTGAGAAGAATGTGCTTTCCCCAGTGAATTGTCTTGGCACCCTTGTAGA AAATCATTTGACTGTAAATGTAAAGGTTTCTTTTTGGACTCTTAAGATTC TCTTTTATTGATCCATACATCTATCCTCATGACAGTCTTGACTACTATAG CTTTGTAGTATTAATCAACTTTTAAAATATATATATATGTGTATATATAT ATATATATATTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAG TGCAGTAGTGCGATCTTGGCTCACTGCAAACTCTGCCTCCCGGGTTCACG TCATTCTCCTGCCTCAGCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCT GCCACCACGCCCGGCCAATTTTTTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(102): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA18967.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0026 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0015 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0046 a0001c0002t0051 a0001c0002t0055	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0092 others(102): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0210 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0129 a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0277 a0001c0001t0003g0004 a0001c0001t0003g0122 a0001c0001t0003g0135 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0278 a0001c0001t0004g0151 a0001c0001t0004g0212 a0001c0001t0004g0266 a0001c0001t0004g0271 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0006g0008 a0001c0001t0006g0019 a0001c0001t0006g0067 a0001c0001t0007g0101 a0001c0001t0007g0207 a0001c0001t0007g0233 a0001c0001t0007g0244 a0001c0001t0007g0281 a0001c0001t0008g0050 a0001c0001t0009g0039 a0001c0001t0010g0174 a0001c0001t0010g0264 a0001c0001t0011g0085 a0001c0001t0011g0114 a0001c0001t0013g0177 a0001c0001t0013g0179 a0001c0001t0013g0206 a0001c0001t0014g0155 a0001c0001t0014g0160 a0001c0001t0015g0063 a0001c0001t0021g0152 a0001c0001t0021g0153 a0001c0001t0021g0158 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0040g0052 a0001c0001t0043g0274 a0001c0001t0045g0269 a0001c0001t0047g0169 a0001c0001t0053g0082 a0001c0002t0001g0076 a0001c0002t0001g0137 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0002g0083 a0001c0002t0002g0181 a0001c0002t0002g0240 a0001c0002t0003g0075 a0001c0002t0003g0095 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0136 a0001c0002t0003g0242 a0001c0002t0003g0249 a0001c0002t0005g0030 a0001c0002t0011g0103 a0001c0002t0012g0041 a0001c0002t0013g0234 a0001c0002t0015g0031 a0001c0002t0018g0009 a0001c0002t0022g0157 a0001c0002t0024g0241 a0001c0002t0046g0078 a0001c0002t0051g0176 a0001c0002t0055g0154	105	310	0.3387	-930	c.206 others(19): Show c.206+45981_206+46910del	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
GGTLC2_chr22_22639614_22652898	22642695	GTTTGAGG others(922): Show GTTTGAGGAACTGAGGGTCAGCTGGCAGTGGGATGAGGCTGGCCCCTCTT CCACTTTCGTTCCGGGAGGCCTCCCGTAGAGCTGTAGGGGCTCGAGATGG CATTTCATTTGGGGCACGAGCTGGTCCGGGAGGTCTGCGATCTCTGGTTC TGACCTCTGGGCACCTGCTGCAGCTGTGGCTGAGGCCCAGAAATGTGAAG GGCCTCCATCCACTCCAGTAGTGACCCCAACGTGGGGTTCAATGCGGAGG GGGGAGGGGCTGCTGCGGCAGCTGCAGGAGCAGAAGTGCCACGCCTTGTT CTTCTCATGCCCGCATCCATGCTTGCAGCTGGGAAGGGGGCAGGAATCAG CGAGGTGACCTGGGCTGAGTCCTGGGAATGGGAAGAGGTGGCAGGAAGGG GATCTGAGGAGGAGAACAGGGGGCCTGGTGGTCTGTGCTTCTTCCCAGAC ATGGGAGCTGTAGAGGGGACCTCTGCAGCAGATGCTAAGGGGGCCAGTAG GCCCAGGCAGTCTTGGGACTTGTGTGTCTCCTGCTGTGCATCCATACTGG GTGCTTTAGAAACGGCAGGCAGACCAGAAGCCCCTGTTGCAAGTGAGGAC AAAGTGTGGGAAGGCCGTGAGGGTCTGCAGTCCGAGATGGCCTTGTCCTC AACTTGCAGTGCACTGTTGATGCGCTGGAATGCCGCCTCCTTCTCCCGGT CAAGGTCTTCAACAGTGACCCGGTACCCCAGCTCTAAGGGAGGTGGCAGC ATCAAAGGCTCCCCTCGCCTGCATGGCAGCAGGGGAAACTTGTGTGTACT GGGCCTAGAGGCCTCGGATGTGGAGGAGTCATTCCTGAGGGTGAGTGTCT GCCCTGGTGCTATATCTGCTGCCTTTTCACACTGGGTGTGACCTGAAGAG ACAGCCTGAGGCCTGTCCTCACTCACTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03579.hp2 NA18522.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0007 a0001c0004t0001 a0001c0003t0007 a0001c0004t0001	a0001c0003t0007g0082 a0001c0004t0001g0083 a0001c0004t0001g0090 a0001c0003t0007g0082 a0001c0004t0001g0083 a0001c0004t0001g0090	3	412	0.0073	-929	c.-20 others(11): Show c.-2047_-1119del	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding		1918		chr22	TogoVar
GINS3_chr16_58387471_58411147	58395964	GCCCCCCC others(922): Show GCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTC CTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCTTGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTACCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGG CTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTACCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGG GCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTTCCCGGACGGGGCGGCTGGCCGGGCGGTGG GCTGACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCTTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02257.hp1 others(5): Show HG01109.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02897.hp2 HG02965.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	8	434	0.0184	-929	c.186 others(17): Show c.186+3191_186+4119del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
LHPP_chr10_124456823_124619141	124506670	TTGGGGGG others(922): Show TTGGGGGGTAGGGAAGATTTCAGGTTGGCGGGTAGGGAAGATTTCAAGTG GGGTGGGTAAGGAGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGG GGTGGGTAAGGAGGATTTCAGGTTGGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTAGGGGGTAGGGAGGATTTCAGGTGGAG AGGTAGACAGGATTTCAGGTTGGGGGGTAGGGAGGATTTCAGGTTGGGGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGT AGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTA GACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTAGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAGGGGTAGAC AGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCA GGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGAA GATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTT CAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0089 a0003c0003t0002g0090	2	260	0.0077	-929	c.624 others(17): Show c.624+8546_624+9474del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMAD3_chr15_67060602_67200169	67112337	TTTTAGTA others(922): Show TTTTAGTAGAGATGAGGTTTCACCGTGTTGGTCAAGCTGGTCTTGAACTC CTGACCTCAGGTGATCCACACGCCTTGGCCTCCCAAAGTGCTGGGATGAT AGGCGTGAGCCACCACACCCGGCTAGCCATTTCTAATTGGGTTGTCTTTC TACTGTTGAATTATAAGAGTTCCTTATATATTCTGGATATAAATTCCTTT ATCAGATACATGGTTTGCAAATATTTTCTTCCATTTTATTTCTTTCAATT CTGTGGGTTGTTTTTTCACTCTCTTGATGGTGTTTTTTGAAGCACAAAAG TTTTTAATTCTGATGAAGCTAAATTTGTTTTACTTTCGTCACTTTTGCTT TTTGTGTTGTATCTAAGAAACTGTTGCTTAATCCAGGGTCACAAAAATTT ACTCCCTTGCATTCTTCTAAGAGTTTTATAATTTTAGCTCTTATATTTAG GTCTTTGATCCATCTTGACCTGATTTTTGTATAAGATGTGAGGTAGGGGT TCAACTTCATTCTTTTGCATGTGAATATCCAGATGTCCATGCACTGTTTG TTGAGAAGAATGTGCTTTCCCCAGTGAATTGTCTTGGCACCCTTGTAGAA AATCATTTGACTGTAAATGTAAAGGTTTCTTTTTGGACTCTTAAGATTCT CTTTTATTGATCCATACATCTATCCTCATGACAGTCTTGACTACTATAGC TTTGTAGTATTAATCAACTTTTAAAATATATATATATGTGTATATATATA TATATATATTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGT GCAGTAGTGCGATCTTGGCTCACTGCAAACTCTGCCTCCCGGGTTCACGT CATTCTCCTGCCTCAGCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTG CCACCACGCCCGGCCAATTTTTTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03688.hp2 NA18991.hp2 HG00408.hp1 HG03688.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0027	a0001c0001t0001g0180 a0001c0001t0001g0232 a0001c0002t0027g0097 a0001c0001t0001g0180 a0001c0001t0001g0232 a0001c0002t0027g0097	3	310	0.0097	-929	c.206 others(19): Show c.206+45981_206+46909del	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABR_chr17_998519_1184981	1117492	TCCTCCCC others(921): Show TCCTCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTG AACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCAT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAAC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGA GCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTATCCC TGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAG CCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTA TCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCC AGCATTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCCTCCCAGCGTTATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	337	0.0030	-928	c.246 others(17): Show c.246+6763_246+7690del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
FAM78A_chr9_131253078_131281510	131262243	AGAGGTTG others(921): Show AGAGGTTGCAGTGAGCCGAGATCACGCCATGCACTCCAGCCTGGGCGACA GAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAATTAGCGGGGTACGG TAGCAGATGCCTCTAATCCTGTAATCAGGAGGCTGAGGCAGAAGAATTGC TTGAACCTGGGAGGCTGGGTTTGCGGTGAGCTGAGATTGTGCCACTGCAC TCCAGCATGGGTGACAGAGTGAGACTCTGTCTGCAAAAAAAAAAAAAAAG CACTCCCAACTGGACGCAGTGGCTCACACCTCTAATCCCAGCACTTTGGG AGGCCGAGGCTGGCCAACACAGTGAGACCCTACCTCTAAAAAAAAATGCA TTCCTGTTCCTAGAATTAATCACAATAGCCAAAAGGCAGAAGCGATCCAA GTGTCCAACGACAGATAAATGGATAAACAAAATGTGCTACATACGTACAA TGGAATGTTCTTCAGCCTTAAGAAGGAAGGATGTTCCAACACAGGCTACA ACACAGATCAACCTTGAGGACGTTATGTTGAGTGAAATAAGCCAGCCACA AAAAAACACAAACTGTGTGATTCTACTTATGTGAAGTCCCTAGTGTTGTC AAATTCATAGAGACAGAAAGTAGAATGGAGGTTGCCAGGGGCTGGGAGAA AGAGGAACGGAAAGTTGATATTTCTTGGGGACGAAGTTTCAGTTTTGCAG ATGAAAAGAGTTCTGGGCTGGGCGCAGTGGCTCACACCTGCAATCCCAGC ACTTTGTTAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGAC CAGCCTGGGCAATACGGTGAAACCCTGTTCTACTAAAAGTACAAAGATTA GCCAGGCATGGTGGTGGGCACCTGTAATCACAGCTACTCAGGAGGCTGAG GCAGGAGAATCGCTTGAACCCAGGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0139 a0001c0001t0002g0140	2	418	0.0048	-928	c.324 others(16): Show c.324-1821_324-894del	FAM78A	ENSG00000126882.14	transcript	ENST00000372271.4	protein_coding	1/1			chr9	TogoVar
IL3RA_chrX_1331785_1387689	1369895	GTCTCCAA others(921): Show GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGA AGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAG GGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGAGGGACGA CCCTGTGAGGACACAGGGAGAAGACGGCA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	115	0.0087	-928	c.874 others(17): Show c.874+4682_874+5609del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
TM4SF19_chr3_196318547_196343388	196329047	GATTCTCC others(921): Show GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCA CCATGCCCGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGACGGTCTTGATCTCCTGACCTCGTGATCCGCCTGTCTCGGG CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAATAA ATGATTTTTTAAGAAGATGACAATTCAGCGGGAAAAAGTCTCTTCCACAA ATGGTGCCGGAACAATGCACATGCAAAACAAAACTGCCTTCACTATTACT TCACAACATATTCAAAAATTCACTTGAAATGGAGCATGGGTCTAAAAGCT TTATAAAATTTCTAGAATAAAACAAAGGAGAAAAACACTGGGACCTTGGG TTAGATAAAGGTTTCTTACTAAAATGCAAAAAGTACAATCCACAAAACAT GATTAATCAGACTGCTTAAAAATTTAAATGTCAGCTGGGTGCTTGCCTAT AATCCCAGCTACTCGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGGAG GCAGAGGCTGCAGTGAGCTGAGATCGCGCCACTGCACTTCAGCCTGGGCG ACAAGAGCAAGCGACTCCATCTAAAAAAAAAAAATCATGCTAAAAGAAAT AAGCCAGACACTAAAGGACAAATATTGTATGATTCCACTTATATGAAATA TTCAAAATAACAACTTTATAGAGAAAGAAAGTAGACTGGAGGTTATCAGG GACTGTGGGGAGGGAGGAGAGAATGGGGAGTTATTGTTTAATGGTTACAG AGGTTTTCAGGTTTTGTTTTGTGTTGTTTTGTTTTTTTTTTTTGAGACAG AGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCA CTGCAACCTCTGCCTCCTGGGCTCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(186): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0003c0003 a0004c0007 others(3): Show a0001c0001 a0003c0003 a0004c0007 a0005c0006 a0006c0005 a0007c0008	a0001c0001t0001 a0003c0003t0001 a0004c0007t0001 others(3): Show a0001c0001t0001 a0003c0003t0001 a0004c0007t0001 a0005c0006t0001 a0006c0005t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0003c0003t0001g0135 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0161 a0003c0003t0001g0230 a0004c0007t0001g0188 a0005c0006t0001g0137 a0006c0005t0001g0234 a0007c0008t0001g0173	189	370	0.5108	-928	c.-1- others(15): Show c.-1-2384_-1-1457del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129858096	AGAGTCCG others(921): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACA GAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGC CCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACG GGATGGGTGCCCTTGTAACAGAGTCCTGGGAAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG AAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAGCGGGATG GGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGATGGGATGGCTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGGAGTCCGGGGGAACGGGATGGGTGCCCTTGGAGTCC GGGGGAACGGGATGGGTGCCCTAGTAACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	94	0.0106	-928	c.79+ others(17): Show c.79+44237_79+45164del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
RPTOR_chr17_80539838_80971368	80601545	ATGGTTCA others(920): Show ATGGTTCAGTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATA GTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACT TGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACA GATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAAT GAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCG ATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCG CCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAG ACGGGGTGGTGGCCGGACAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCTGGGCAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGGG GCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCG GACGGGGCGGCTGGCCGGGCAGAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(84): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA20300.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(58): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0046 a0001c0047 a0001c0048 a0001c0050 a0001c0053 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0066 a0001c0072 a0001c0074 a0001c0075 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0005c0092	a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 others(78): Show a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 a0001c0008t0027 a0001c0008t0054 a0001c0008t0081 a0001c0009t0001 a0001c0009t0006 a0001c0009t0028 a0001c0009t0078 a0001c0011t0024 a0001c0011t0029 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0015t0008 a0001c0016t0031 a0001c0018t0017 a0001c0019t0003 a0001c0021t0018 a0001c0021t0079 a0001c0022t0001 a0001c0023t0008 a0001c0024t0003 a0001c0025t0051 a0001c0025t0052 a0001c0028t0006 a0001c0029t0025 a0001c0029t0085 a0001c0031t0027 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0038t0007 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0050t0007 a0001c0053t0007 a0001c0056t0001 a0001c0057t0077 a0001c0058t0004 a0001c0059t0080 a0001c0060t0001 a0001c0066t0058 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0086t0004 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001 a0005c0092t0012	a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(84): Show a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0005t0026g0151 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0076g0192 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0008t0027g0143 a0001c0008t0054g0169 a0001c0008t0081g0019 a0001c0009t0001g0125 a0001c0009t0006g0142 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0011t0024g0147 a0001c0011t0029g0196 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0029t0085g0012 a0001c0031t0027g0173 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0038t0007g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0050t0007g0148 a0001c0053t0007g0122 a0001c0056t0001g0107 a0001c0057t0077g0016 a0001c0058t0004g0156 a0001c0059t0080g0006 a0001c0060t0001g0130 a0001c0066t0058g0126 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157 a0005c0092t0012g0163	87	196	0.4439	-927	c.163 others(19): Show c.163-24136_163-23210del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SDHA_chr5_213320_262082	259953	AGAGCATT others(920): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGC CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGA GCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCAT TACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGC TCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	266	0.0075	-927	c.35 others(11): Show c.3534_*4460del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2872		chr5	TogoVar
SNX8_chr7_2246770_2319441	2315280	TCACCCAC others(920): Show TCACCCACTCACTCACTGCATCCTGCATTCATTCATTCACCCACTCACCC ACTCACTCTCTGCATCCTGCATTCACTCATTCACTCACTTATTGCATCCT GCATTCATTCACCCACTCACCCACTCACTCACTGCATCCTGCATTCATTC ATCCACCCACTCACTCATGCACTGCATCCTGCATTCATTCATCCATTCAC TCACTCACTCACTTACTGCTTCTTCATACGTTCATTCACCCACTCACTCA CTGCATCCTGCATTCATTCATCCACCCACTCACTCATGCACTGCATCCTG CATTCATTCATCCATTCACTCACTCACTCACTTACTGCTTCTTCGTACAT TCATTCACCCACTCACGCACTGCATCCTGCATTCATTCATTCACCAACCC ACTCACTGCATTCTGCATTCATTCAGTCACTCACTCACTGCATCCTGCAT TCATTCATTCACCCACTCACTCACTTACTGCATCCTACATTCATTCATTC ACTCACTGCATCCTGCATTCATTCATTCACCCACTCACTCACTTACTGCA TCCTGCATTCATTCACTCACTCACTAACTGCATCCTGCATTCATTCACTC ACTCACTAACTGCATCCTGCATTCATTCATCCACCCACTCACTCACTCAC TGCATCCTGCATTCATTCATCCACTCACTCACTCACTGCTTCTTCATACA TTCATTCACCCACACTCACTGCATCCTGCATTCATTCACCCACTCACTCA CCCACTCACTGCATCCTGCATTCATTCATCTACCCACCCACTCACTCATG CACTTCATCCTGCATTCATTCACCCACTCACTCACTCACTGCATCCTGCT TTCATTCACGCAACCACTCACTCACTGCACCCTGCATTCATTCACCCACT CACTCACTGCATCCTGCATTCACTCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03239.hp2 HG01516.hp1 HG01517.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0258	3	370	0.0081	-927	c.-17 others(10): Show c.-1786_-860del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		840		chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393495	GGGCAGGT others(920): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	346	0.0029	-927	c.181 others(21): Show c.1811-14119_1811-13193del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
HDHD5_chr22_17132520_17164277	17146839	GCACACGC others(919): Show GCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGA TCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTT ACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCC TCCTGTGAGCTTACCGGCATTCGATCACACGCCATCGCACACGCCCCACA CCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGTCATCGC ACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATC ACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTAC CGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTC CTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACC TGTGACGCACTCCTGTGAGCTTACAGGCCTTCGATCACACGCCATCGCAC ACGCCCCACACCTGTGGCGCACTCCTGTGAGCTTACCGGCCTTCGATCAC ATGCCATCGCACACGCCCCACACCTGCGACGCCCTCCTGTGAGCTTACCG GCCTTCACATGCCATCGCACACGCTCCACACCTGTGGCACACTCCTGTGA GCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGGC ACACTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCC CACACCTGTGGCGCCCTCCTGTGAGCTTACCGGCCTTCAATCACACGCCA TCGCACACGCCCCACACCTGTGGCACACTCCTGTGAGCTCACAGGCCTTC GATCACATGCCATCGCACACGCTCCACACCTGTGGCGCCCTCCTGTGAGC TTACCGGCCTTCGATCACACGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01257.hp2 others(7): Show HG01081.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01993.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0117 a0001c0001t0001g0004 a0001c0001t0001g0117	10	422	0.0237	-926	c.443 others(16): Show c.443+683_443+1608del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
WWTR1_chr3_149512235_149663025	149513203	GTGAGAGA others(919): Show GTGAGAGAAGATCATGGCCATTGCACTCCAGCCTGGGCAACAAGAACAAA ACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGAAACTTAAGTTCT GAGACTTTAAGAAACTTGGCTAAGGCCACGGCATTAATGAATACCTGCAC AGTACTGAACTTCTTAACTTGTTGTCATAATGAAGCCCAGCGCGAATTGT AAAGGAGACTGCCCACACATGCATTTTACTAGTGCTCACACACCTCACCT TCTCCAGGACTCAATATGCTACGTGGAATGTGCCGGGCCTCCTCTTCCCC AATTAATGTTTCACCCTTATTTTGGTACTCTGAAACTCTTATTTTGCTCT ATGCTAATCCCATAAATTGGTTCTCATTCTAGAGTGCAGACAGTAATGAC TGTTAACTTCTGCTAAGCCCACAAATTAGTTTTCTCCATTTGTAGCCCAA TTGATCACATTATCATTCCCCAGGGAAGATATTTGGTGGAGGTGGGGGGC TTTTTCTGGAAAGAGTACTCTAATCCTAATGGTAGAAGTGTCAGCTTTTC TGATTGGGTAGTGAGAAATATGCTTTGTAATTTGGCTTGCTGAAGTTATG CCATTTATAAAGGTTAGAGTCAGAGTTAAAATATCAGTTTCTCAACCTCC TGTCTGTTATAGCTATCAGACTCAGAAGTGCTTTAAGAAAAGGAGTGTGG GCCGGGTGCAGGGGCTCACGCTTATAATCCCAGAACTTTGGGAGTCCAAG GCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGT GAAACGCCATCTCTACTAAAAATACAAGAATTAGCTGGACGTGGTGGCAG GTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGGAGAATCACTTGA ACCCAGGAGGCAGAGGTTGCAGTGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02717.hp1 HG02055.hp1 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0012 a0001c0001t0020	a0001c0001t0012g0199 a0001c0001t0012g0276 a0001c0001t0020g0330 a0001c0001t0012g0199 a0001c0001t0012g0276 a0001c0001t0020g0330	3	334	0.0090	-926	c.66 others(11): Show c.6676_*7601del	WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding		4031		chr3	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(918): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02015.hp1 HG02109.hp1 others(3): Show HG01255.hp1 HG02015.hp1 HG02109.hp1 HG02647.hp1 HG03710.hp2 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0010 a0002c0001 a0002c0010	a0002c0001t0001 a0002c0001t0002 a0002c0001t0035 others(3): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0035 a0002c0001t0038 a0002c0001t0041 a0002c0010t0005	a0002c0001t0001g0221 a0002c0001t0002g0226 a0002c0001t0035g0232 others(3): Show a0002c0001t0001g0221 a0002c0001t0002g0226 a0002c0001t0035g0232 a0002c0001t0038g0164 a0002c0001t0041g0177 a0002c0010t0005g0183	6	248	0.0242	-925	c.226 others(19): Show c.2267+4773_2268-4079del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(918): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0130 a0001c0003t0005g0130	1	248	0.0040	-925	c.226 others(19): Show c.2268-4330_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240907950	CCTCTACC others(918): Show CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00733.hp1 others(45): Show HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18945.hp1 NA18954.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA19004.hp1 NA19011.hp2 NA19064.hp2 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0021 a0023 a0028 a0031 a0039 a0045 a0046 a0050 a0053 a0054	a0001c0001 a0002c0002 a0002c0070 others(20): Show a0001c0001 a0002c0002 a0002c0070 a0004c0004 a0004c0050 a0005c0005 a0006c0007 a0006c0046 a0009c0010 a0009c0048 a0010c0009 a0013c0075 a0015c0016 a0021c0019 a0023c0054 a0028c0047 a0031c0052 a0039c0056 a0045c0064 a0046c0069 a0050c0039 a0053c0037 a0054c0036	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(23): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0070t0001 a0004c0004t0001 a0004c0050t0003 a0005c0005t0003 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0009c0010t0001 a0009c0010t0003 a0009c0048t0001 a0010c0009t0001 a0013c0075t0001 a0015c0016t0001 a0021c0019t0001 a0023c0054t0001 a0028c0047t0001 a0031c0052t0001 a0039c0056t0001 a0045c0064t0001 a0046c0069t0001 a0050c0039t0003 a0053c0037t0001 a0054c0036t0001	a0001c0001t0001g0234 a0001c0001t0003g0175 a0001c0001t0003g0180 others(45): Show a0001c0001t0001g0234 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0226 a0002c0002t0001g0176 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186 a0002c0070t0001g0188 a0004c0004t0001g0177 a0004c0050t0003g0218 a0005c0005t0003g0184 a0006c0007t0001g0204 a0006c0007t0001g0208 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0003g0209 a0006c0046t0001g0228 a0009c0010t0001g0203 a0009c0010t0001g0222 a0009c0010t0001g0223 a0009c0010t0001g0230 a0009c0010t0003g0206 a0009c0010t0003g0210 a0009c0010t0003g0211 a0009c0010t0003g0219 a0009c0010t0003g0229 a0009c0048t0001g0207 a0010c0009t0001g0213 a0010c0009t0001g0225 a0013c0075t0001g0178 a0015c0016t0001g0201 a0021c0019t0001g0220 a0021c0019t0001g0227 a0023c0054t0001g0189 a0028c0047t0001g0202 a0031c0052t0001g0169 a0039c0056t0001g0185 a0045c0064t0001g0179 a0046c0069t0001g0187 a0050c0039t0003g0214 a0053c0037t0001g0205 a0054c0036t0001g0231	48	350	0.1371	-925	c.78+ others(15): Show c.78+1452_78+2376del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPR39_chr2_132411805_132651582	132422419	TTCGTATT others(918): Show TTCGTATTACACAGAAGTGGATGCCTTGAAATGCTTTGACAGTGCCCATA AGAATTTTTAGTAGTTGTTTTCTTCACTAGGTTAAATGCTTATCTTACAA TCATGTTTTCATCATTAGTTTTCTTAGCAAAGGCTTTTTATTTGATATGA AAGGATATGTCAACACAGTCTTTGAGGGAAATACCATCAACATTAAATTA GTGACTTTTTTAGTGTAAGATATTATTTTGACTCCAATGTTTCAATATTT CAGAAAAAAGTTTTGCCTCAAATATTTTATGTTTATTACCCTATTTGTGA TAGCTTTCATAAATTGCAAGTGTCCTGTGATCAGCCTGGCAGACAAATAT AATAATGCTGCATTATTTTTATAATCAGGCTGTCTCAAAGATTTCATTTC TCTGTTGGAGAGATGCATAGTTTCCGAGGAAGGGGAGATTGAAATCCCAG TCCCCATTTATTAGCAAGCCTGTTCATCTGTCAGCCTCCTGGGGGCTGCT GAAGTGTAATAAGAGAGGCCTCAGTTGCACAAAGCATTTGGCTTATTAGT GCTAAAACCATTCAGAATAAAAGCCATTTACGAGTTGAGACAGCGCCGTG GAAGAATATTGAATTGGGAGTCAAGGAGCCCCTCTGGCTGTACAAGGCAA GGTCCGCTGGTCTACCATTTGGAGGACACTGTCGACTCCTATCCCTTTTC CCTCTGCACATGTCCCCTGCCAGGCTGCAGCCCTGGGACCACTCAACTGA CTCTCCACCTCTACTCTTGGCTATTTACTGAGGACTGGAGACATGATTGG TCATCCTTTCTGCTGCACATTCTTGTAGATGAATAGCTGTCTTCTCATTG TGTCCTGACCTGGCCTTCTCTGCACATGTGTTCTCCTGGTGTCTCTTGCT CTTCTTATAAGGATGCTGGTCTTATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02071.hp2 HG02145.hp2 others(2): Show HG01243.hp1 HG02071.hp2 HG02145.hp2 HG03688.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0002c0007t0001g0068 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0002c0007t0001g0068 a0002c0007t0001g0069 a0002c0007t0001g0070	5	208	0.0240	-925	c.856 others(17): Show c.856+4522_856+5446del	GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1			chr2	TogoVar
PCM1_chr8_17917988_18034948	18001988	AACCTTTC others(918): Show AACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT GGAGAGATCTGTTAAATTTTTTTTTTCTTTTTTTTTTTTTCTTTTTTTTA TTATACTCTAAGTTATAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTGACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGTCAGTGATGATGAGCA TTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCGCCCACTTTTTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01891.hp2 others(45): Show HG01099.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0010 a0014 a0019 a0022 a0023 a0029	a0001c0001 a0001c0024 a0002c0009 others(9): Show a0001c0001 a0001c0024 a0002c0009 a0002c0017 a0002c0021 a0005c0005 a0010c0014 a0014c0020 a0019c0025 a0022c0029 a0023c0042 a0029c0037	a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 others(25): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0024t0017 a0002c0009t0005 a0002c0009t0016 a0002c0009t0051 a0002c0009t0052 a0002c0009t0063 a0002c0017t0003 a0002c0017t0031 a0002c0017t0032 a0002c0021t0020 a0002c0021t0027 a0005c0005t0008 a0005c0005t0014 a0005c0005t0015 a0005c0005t0027 a0005c0005t0041 a0005c0005t0044 a0005c0005t0055 a0010c0014t0022 a0010c0014t0023 a0014c0020t0020 a0019c0025t0017 a0022c0029t0045 a0023c0042t0016 a0029c0037t0016	a0001c0001t0017g0105 a0001c0001t0017g0108 a0001c0001t0018g0106 others(45): Show a0001c0001t0017g0105 a0001c0001t0017g0108 a0001c0001t0018g0106 a0001c0001t0018g0110 a0001c0001t0018g0112 a0001c0001t0035g0111 a0001c0024t0017g0107 a0002c0009t0005g0304 a0002c0009t0016g0359 a0002c0009t0016g0362 a0002c0009t0016g0365 a0002c0009t0051g0364 a0002c0009t0052g0358 a0002c0009t0063g0363 a0002c0017t0003g0104 a0002c0017t0031g0321 a0002c0017t0032g0322 a0002c0021t0020g0103 a0002c0021t0027g0102 a0005c0005t0008g0168 a0005c0005t0008g0169 a0005c0005t0008g0174 a0005c0005t0008g0332 a0005c0005t0008g0333 a0005c0005t0008g0334 a0005c0005t0014g0160 a0005c0005t0014g0163 a0005c0005t0014g0171 a0005c0005t0014g0175 a0005c0005t0014g0176 a0005c0005t0015g0162 a0005c0005t0015g0164 a0005c0005t0015g0165 a0005c0005t0015g0166 a0005c0005t0015g0173 a0005c0005t0027g0170 a0005c0005t0041g0161 a0005c0005t0044g0335 a0005c0005t0055g0167 a0010c0014t0022g0330 a0010c0014t0022g0331 a0010c0014t0023g0354 a0010c0014t0023g0355 a0014c0020t0020g0098 a0019c0025t0017g0109 a0022c0029t0045g0279 a0023c0042t0016g0361 a0029c0037t0016g0360	48	368	0.1304	-925	c.482 others(19): Show c.4828-4267_4828-3343del	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R15B_chr1_204398381_204416817	204412721	TTTGAGAC others(918): Show TTTGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT CTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCC CAGCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTA ATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATG GTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTT ATAGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTC AAGTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGA GCCACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGT ACTATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTG CGTACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCT CAGTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATA TTCAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATAC AACAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGC TGGTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAG TTCATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCA AGTACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAG AAAAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACT GGGCCTGTTCAAGGAACAACCACTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	394	0.0025	-925	c.-22 others(11): Show c.-2235_-1311del	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding		905		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121954	CGGTGGTT others(918): Show CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGT CGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCA TGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTC GTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACG GTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGG TAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACG GTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTG GTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGT TAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTT AGGGTTGTGGTGGTTAGGGTCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	286	0.0035	-925	c.335 others(19): Show c.335-13286_335-12362del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627913	GGGGGTGA others(918): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0001 a0021c0015t0001	a0021c0015t0001g0231 a0021c0015t0001g0231	1	352	0.0028	-925	c.299 others(16): Show c.299-1412_299-488del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
ANKRD11_chr16_89262630_89495561	89429085	TGGGATTC others(917): Show TGGGATTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTC TCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCAACTCT CACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCA GACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCT AGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACA GCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGAC TCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACT CTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCT CAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGACGTT CTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACA CAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAGCAGGG ACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAA CTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACG CTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCG TTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTA CACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAG GTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTC AACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCAACTCTCA CGCTCAGTCGTTCTAGTACACAGCA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	310	0.0032	-924	c.-14 others(21): Show c.-144-11641_-144-10718del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
P2RX5_chr17_3668227_3701155	3686129	CAGAACAG others(917): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	362	0.0028	-924	c.981 others(16): Show c.981+959_981+1882del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686258	CAGAACAG others(917): Show CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	362	0.0028	-924	c.981 others(16): Show c.981+830_981+1753del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PPP1R15B_chr1_204398381_204416817	204412722	TTGAGACG others(917): Show TTGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCCC AGCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTAA TTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGG TCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTTA TAGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTCA AGTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAG CCACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGTA CTATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTGC GTACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCTC AGTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATAT TCAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATACA ACAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGCT GGTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAGT TCATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCAA GTACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAGA AAAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACTG GGCCTGTTCAAGGAACAACCACTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02922.hp1 others(1): Show HG01192.hp2 HG02109.hp1 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0002t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0002t0002g0002	4	394	0.0102	-924	c.-22 others(11): Show c.-2235_-1312del	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding		906		chr1	TogoVar
SMOC2_chr6_168436184_168672992	168592472	AGGGGCCT others(917): Show AGGGGCCTCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGA GGCTTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCT TCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCC TTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTT CTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCT CCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCC TCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCT CCTCCTTCCTGAGGACTCACGGGCGTCTTTCTAGAGGATCTCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18973.hp2 NA19085.hp1 NA18950.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112	3	180	0.0167	-924	c.638 others(17): Show c.638-6344_638-5421del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	46859398	CGTGCCCC others(917): Show CGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGT GCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAG TGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCG CAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCATAGAGGTCCG CGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGT CCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCATAAAAG TCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGA GGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATA GAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTTTTCCAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTG ATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTC CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGTGCAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02895.hp2 others(2): Show HG01243.hp2 HG02622.hp2 HG02895.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0004t0022	a0001c0001t0001g0042 a0001c0001t0002g0032 a0001c0001t0004g0093 others(2): Show a0001c0001t0001g0042 a0001c0001t0002g0032 a0001c0001t0004g0093 a0001c0001t0008g0100 a0001c0004t0022g0033	5	112	0.0446	-924	c.638 others(19): Show c.638-19071_638-18148del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
AK1_chr9_127861486_127882675	127870835	GCATGGGG others(916): Show GCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTA GGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCC GTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGT GTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGC TGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTG TGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTT GTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCC ATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGC CATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGG AAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGA ACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTT GCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAG GGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTG TCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGA TGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGC CGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCT TCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTT CCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTG CATCACAGCCCCCGCAGGCCCGCC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 HG02723.hp2 others(7): Show HG01167.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0090 a0001c0003t0002g0006 a0001c0003t0002g0270 a0001c0001t0001g0090 a0001c0003t0002g0006 a0001c0003t0002g0270	10	426	0.0235	-923	c.324 others(14): Show c.324+65_324+987del	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	5/6			chr9	TogoVar
CTNNA3_chr10_65907523_67701195	67279541	TAGTCAAT others(916): Show TAGTCAATTAGGTATTTGTCTTGTGCTTGGTAAATTGGCACTTTACATAA GTTAAGGTGAACACTATGTAGCTACGGGGAGATATTTAACCTTTTATCTG TAGCTATCTGCTTAGGAACAAAAGGAAAGGCGGCTGACTCAGCCTTCAGC TTAACTTTTTCCTTTTGGCATGGTGAATTGGGGTCCCGAGTTTCTACTTT CCTTTCACAAAATCTAACCTCCTAAAGCCACCCAGCTAGTTCCAGTCACA GCCAGATATAAAATCAAGGCTTTTGACTCAGTGCTCTTTCAACTACTCCA AACTGATAAGGTTTACTAGGGGAGGTGGAAGAGAAAAAACTGAGAAAATG AAAGAAACGGACAGAGAAAATTTCATTCATTGATAAAAACAGATGACATC TATCATTACTTCATAAAAGATACCAAAAATCATATCTATTACACAATTAT AGAAAAATATATTAAATAATAGGCCTTACCATAGAAATTGTAGGAGTCCA GAGAACAATACCCCAAAGTATGGTGCTTTGGCATGCTGAGTTCTTTTAAA TTAAAGGATATCAAAAGGCCTCATAAGCAGCCCCAGAACCAAGGACTTTT TGATCTCCTGTTTCTCACTCCAAGCACAGAGTGGAACCCTCTCTCTCAAA TTCCTTTATCTGAGCTTTCCAAAAGGCACAGAATTGTCTTTTGTCCCCCG CCCTGAAATTTAATTATCTATGGCAGGAAAGAAGACTAAGGAATGTAACC AAAACTGGATGGACTTTGTCAGAAAATAGTGTCTGTCTCTAAAGCTCATT CAAATGCCAAAGAGAACCATTTACAAGCTAATTTCTGTCTCCTGGTGATG CAGGATTTTTTTCCTCCTTAGTTCGGGTAAAATCCAGGTTCTTGTCTCAC AACCAGGAAAAATTAGGCACACAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02922.hp2 HG02280.hp1 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0014 a0001c0001t0002 a0001c0001t0003 a0001c0003t0014	a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0003t0014g0025 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0003t0014g0025	3	46	0.0652	-923	c.580 others(19): Show c.580-60594_580-59672del	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
IL3RA_chrX_1331785_1387689	1365283	AGCGGGGT others(916): Show AGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGG GGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGA GCCGGCTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCGGGGTGAGCGGG GTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAG CCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGCGCGGGGTGAGCGGGG TGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGC CGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGAGCCGGGT GAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGA GCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAG CGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAG CCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGG TGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGC GGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGCGCGGCGTGAGCCGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0002 a0012c0007t0002	a0012c0007t0002g0045 a0012c0007t0002g0045	1	115	0.0087	-923	c.874 others(15): Show c.874+79_874+1001del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPM1D_chr17_60595193_60671280	60611086	TCTCAGCT others(916): Show TCTCAGCTCATTGCAACCTCTGCCTCCCAGGTTCATGCGATCCTCCTGCC TCAGCCTCCCAAAGTAGCTGGGATTACAAGCATGCACCACCACCCCAGCT AATTTTTCTATTTTTAGTAGAGTTAGGGTTTCACCATGTTGGCTAGGCTA GTCTTGAACTCCTGACCTCAAGTGATCTGCACGCCTTGGCCTCCTAAAGT GCTGACATTATAGGTGTAAGCCACCATGCCTGGCCATGTTTTCTTTTTAT GAAATACCTTTTAATTTTTTTGCCCATGTTAACACTGAATTGTTTTCTTG CTGATTTGTAGAAATTCTTTATGTATTTTGTGGGGTTTTTTTGTTTTGTT GGGTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCA GCGGCACGATCTTGGCTCTGCCTCCTAGTTTCAAGCAATCCTCCTGCCTC AGCCACTTGAGTAGCTGGGATTACAGGCATGTGCTACAATGCCTGACTAA TTTTTGTGTTTTTTGTAGAAATGGGGTTTCACCATGTTTGCCAAGCTGGT CTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGCGC TGGGATTGTAGGTGTGAGCTGCCACGCCTGGCCCAAAATTCTTTATGTAT TTTGGATACTAATTCTTTGTTACAGAGTTAGCAGGTATCTTCCAGTTTTT AGTTTGTCTCTTCACTTCGTGATGTTTATTAATGAACAGAAGATGTTAAA CTTATGTAATTTTATTAATCATTTTCTTGATATCTCATGTTTTTAAAGAT GCTATTGTGTTCTCTTCTAAGAGGTATACAGCTCTGCTTTCACAATTAAG TCCTCCTATCATTTTTGTTTTTGTCCTTTACCTATGTGCTGTCCAATTGA CTGGAGTACACATGTAGCCACTGA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	214	0.0047	-923	c.472 others(19): Show c.472+10203_472+11125del	PPM1D	ENSG00000170836.13	transcript	ENST00000305921.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP1R15B_chr1_204398381_204416817	204412723	TGAGACGG others(916): Show TGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCCCA GCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTAAT TTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGGT CTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTTAT AGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTCAA GTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAGC CACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGTAC TATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTGCG TACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCTCA GTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATATT CAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATACAA CAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGCTG GTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAGTT CATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCAAG TACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAGAA AAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACTGG GCCTGTTCAAGGAACAACCACTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01346.hp2 HG01952.hp2 others(30): Show HG00423.hp1 HG01346.hp2 HG01952.hp2 HG02004.hp2 HG02080.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18959.hp1 NA18990.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19089.hp1 NA19240.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0017 a0004c0009t0001 a0001c0002t0002 a0001c0002t0017 a0004c0009t0001	a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0017g0033 a0004c0009t0001g0020	33	394	0.0838	-923	c.-22 others(11): Show c.-2235_-1313del	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding		907		chr1	TogoVar
FBLN7_chr2_112133385_112193218	112138918	GCGCCTCT others(915): Show GCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTC CCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAG CGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGG TCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCG CCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCTT CACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGT CCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCA GCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAG GTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCT CCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCT CTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCC GCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCC TCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTG TCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTC AGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCA CGCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTC TCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCC TCTCTCCAGGCCAGTGTCCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	346	0.0029	-922	c.75+ others(14): Show c.75+234_75+1155del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346341	CGAGAGCG others(915): Show CGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACC CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACC TCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAG GACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCG GACCTGGGAGGACCTCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	288	0.0035	-922	c.466 others(17): Show c.466-2304_466-1383del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346487	CCTGACAG others(915): Show CCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAG GACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACA GACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC AAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAG CAGACCCGGGAGGACCTCTGTGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0002g0001 a0001c0001t0003g0033 a0001c0001t0001g0199 a0001c0001t0002g0001 a0001c0001t0003g0033	4	288	0.0139	-922	c.466 others(17): Show c.466-2450_466-1529del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
TNNI3K_chr1_74230387_74549428	74447359	TAAGAATG others(915): Show TAAGAATGCTTGTGATTTTTCCAGAATCTACAATGAACTCAAACAAATTT ACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAAC AGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAA ATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGA GATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAAC AACAGGTGCTGGAGAGGATGAGGAGAAATAGGAACACTTTTACACTGTTG GTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCC TCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTG GGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCAC ACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAAC CCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG02145.hp2 others(15): Show HG01074.hp1 HG01255.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0029 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0003g0038 a0001c0001t0003g0052 a0001c0001t0005g0179 a0001c0003t0002g0181	18	194	0.0928	-922	c.201 others(19): Show c.2011+7757_2011+8678del	TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
DGKB_chr7_14140049_14907751	14211296	ATTTACTC others(914): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCGTGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	148	0.0068	-921	c.212 others(21): Show c.2123-34066_2123-33146del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar

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