Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1235614	CCCTCTGC others(3591): Show CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTG TGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCC CCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATG ATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTG TCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATAC CTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGT GATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGC ACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAG CCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATG ATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGC CCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTC CTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGG TGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGT GTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTC CCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGC TGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGC TGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCAT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCC CCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCAT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTA CTCCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0073 a0001c0003t0040g0073	1	106	0.0094	-3598	c.136 others(19): Show c.1361+2919_1362-1770del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGBL3_chr7_134981508_135140778	135024816	AAAATTCA others(3588): Show AAAATTCACTACAAGAATTACATAATACAGTTAGAATCATTAACAGCAGA CTAGACCAAGCTGAAGAAAACCCTCAGAGCTTGAATAAACTCATACAAAA ATACAGAAGAAATAATTTTTTTAATGAACAAAACCTTTGAGAAATATGAG ATTATGTAAAGATTCCAAACCTATGACCCATTGGCATTCCTGAGAGGGAA GGAGAGAGAGTAAGCAACTTGGAAAATGTATTTTAGGATATAGTTCACAA AAATTTCCCCAATCTCACTAAGGAGGTTAACATGAAAATTCAAGAAATAC AGAGAACCCCTGCAAGATATTATACAAGATGACCATCCTCATGGTACATA GTCAGCAGAATCATCAAAGTCAACATGAAAGAAAAAATCTTAAAGGCAGC GAGAGAGAAGGGTGAAGTCATGTACAAAGGGAACCCCATCCAGCTAGCCG TGAACCTTTCAGCAGAAACCTTACAAGCCAGAAGGGGGCCTATTTTCAGC ATCCCTAAAGAAAGAATTCTAATCAAGAATTTCATATCCCATCAAACTAA GCTTCCACAAGTGAAGGAGAAATAAAATCCTTCTCAAACAAGTAAGTGCT AAGGGAAGTTGTTATCACTAGACCAGCCTTACAAGATGATATGGAAATAA AAGAATGATACCTGCTACCACAAAAACATGCTTAACCATATAGCCCACTG TAAAGCAGTTACACAGTCAAATCTACATAGCAACCAGCTAATAACATGAT GACAGGATTAAAATCGCATATATTAATACCAACACTGAATGTAAATGGTC TGAACAGACCACTTAAAAGGCATAGAGTGGCAGACTACATAAAAAGACAA GACCCAACTGTTGGCTGTCTTCAACAGACCCGTCTCATATGTAGTAACAT CCACAGGCTCAAAGTAAAGGGTTGGAGAAAGATCTACCAGGCAAACAGAA AACAAAAAAGGCCAGGAATCACGATTCTTATATCAGATGAAACAGACTTT CAATCAACAATAATCAAGAAAAAGAAGGGCATTACATAAACAGTTCAATT AAACAAGAAGTCTTAACTATCCTAAATATATATAAACCCAACAATGGCGC ATCGTTTCATAAAAGTTCTTCTTGACCTATAAAAAGACTTAGCCACACAA TAACAGTAGGAGACTTTAACACCCCACTGACAGTGTTAAGATGATTGAGA CAGAAAGCTAACAAAGAAATTCTAGACTTAAACTGGACACTTGAGCAACT GGACCTAATAGAACACCCAGCAACCACAGAATATGTATTCTTCTCATTTG CACATGAAACATATTCTAAGATCAACCACATGCTTTGTCATAAAGCAAGA CTCAATAAATTAAAAAAAATTGAAATCACCCCAAGCACATTCTCACATCA CAGTGCAATAAAAATAGAAATGAATACCATTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTAGAGATGGAGGCTTGCTCTTTTGC CCGGGCTGGAGTGTAGTGGCACAATCTTGGCTCATTGCAACCTCCGCCTC TTAGGTTCAAGCGATTTTCCTGCCTCAGTTTCCCAAGAAGCTGGGATTAC AGGCGTGCGCTACCACACCTGCCCAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTGAT CCACTTACCTCGACCTCCCAAAGTGCTGGGATTATGGGCGTAAGCCACCA TGCCCGCCAGTGTCTTTTATAACTAGGAAATATTTCTTTTTATCTCTGGC ATTACATCATGTCTTTATGTTGTTTGAGAGTAATATAGTCAATACCAGTT TTCTTATGTTTACTGTTTACTTAGAATAACTCCCCGTTTTATTTTCAATC TTTTTATGAAATTATATTTTAATTCTATCTCTTATAGATAGTATATAGTA GTACCTTACTTTAAAAAATCTAATCTGACAATCTCTGCCTTTTAATTAGA GTGGTTTGACAGTCTGCATTTCGTGTATTTGCATATATGTTTGGGTTTGG CTCTATCTTATTAATTGGCCCATCTCATTTTTATTCCTCAGTTACTCCTC TTTTTGGGAAGGTTAATCAAACACCTTTTAGTATTTCATTTTAATTAAAA TATTTTCTTAGGTATACCTCACGTTTAGTTTGATTGGTTTAGAAATTACA ATATACAATTTCTTAAAGTCTATTTTATTTTACTTTTTATTTGAATTTTT GGAGACAGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATC TCTGCTCACTGTAACCTCTACCTCCCAGGTTCAAGTGATTCTCCCACCTC AGCCTCCTGAGAAGCTGGGACTAGGGTGCGCACCACCATGTTCGGCTAAT TTTTTGTATTTTAGTAGAGATGGGGTTTTACCATGTTACCAAGGCTGGTC TCAAACTTCTTAGCTCAGGCAGTCCACCCACCTTGGCCTTCCAAAGTGCT AGGATTACAGGCGTGAGCCTCTGGCCTTTTATGGTCTATTTGAAATTAAT ATTATACCTTTTTTTGTTTGTTTTAAATGGGTCAGTTGCCTTTAAAGAAA TTAAGAGGAGAAAAAATTGTATTTATATTTATTTATGTATTTACCATTTC TTCTCCTCTTTATTCCTTCCTGTAGATCTGAATTTCCATCTGGCATCATT GTTTTTTTATCCCAAAGAACGTCTTTAGCATTTCTTTTCAGTTTTAAGTT GGCTGGCAGTGAATTATTTCAAATTTCATTTGTCTAATCCTGTATTTTTT CCACCACTTTTTGAAGGGCATTCTCAATGAATATAGAATTCTGAGTTGGC TTTTTTTTCTTTAAAGATATTTTTCCATTGTCTTGTAGCCTCTGTTGTCT TTAATAAGAAGACAGCCATAGAATGTAGTTAAACAAGAATATATTGTACT CAGGAGATGGACACCCTAAACACCTGGACTTGATCACTACACATTACCCA TTACATACATATAACAAAATTTCACATGAACCCTATATATTTGTACAAAT TTTTAAAAAGAATTCAGCCATAATTTATACAACCATGCCTCAGAGATGCA GGTTTAGTTCCAGACCACTGCAATAAAGTGAATCTCTCAATAAAGTAAGT CACACAAATTTTTTGGTGGTGTCCAAGTGGATATGAAAGTCCATTAGGTG TGAAATAGCATCATGTCTAAAAACAACAACATCTTTGCCCTAATTAGAAA TACTTTATTGCTAAAAAATTAAAATTATCATCTAAGCCTTCAGCAATTCA TATTCTTTTTGCTTGGTGGAGGATTTTGTCTCAGTGTTAATGGCTGCTGA CTGATCAGGGTGGTGGTTGCTGAAGGTAGGGTGGCTCTGACAATTTCTTA AAATTAGACAGCAGTGAGTCAATTAGACATAATTGACTCTTCATGAAAGA TTTCTCTGTAGCATGTGATGCTATTTGATAGCATTTTACCTACAGTAAAA CTTCTTTCAAAATTGGAGTCAGTCCTATTAAATCCTTAGTTTATAACTAA TATTATGGAATATACTAAATCCTTTGTTGTCATTTCAACAATCTTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01978.hp1 others(41): Show HG00438.hp2 HG00621.hp1 HG01978.hp1 HG02040.hp2 HG02074.hp2 HG02683.hp2 HG02698.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0001c0001t0001 a0001c0013t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0062 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0013t0001g0086 a0002c0002t0001g0056	44	320	0.1375	-3595	c.418 others(17): Show c.418+7659_419-4432del	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAIP2_chr5_139336854_139374717	139359427	CAGTGCCC others(3584): Show CAGTGCCCGGTGTGAAAAGTAGGATTTTATGGGCATAAGTTGGGACAGGA TACAAATTGGGAAAATAATGAAAACCTGTTTATATTGGGGTGTCTTTGTA CCTAACTTAATGATAAGGTTCAGATGCAGATTAACCAAAGTTCCATCCAG TTGTGAGGCAGGATCAATCCCAGCCATTCACAGTGTTAGAGGAATATCTA AAATGTAATTATTTAACAGTAAGCAGTTTGGTAGCCTGCCATATAAGAAT GAGTAATTTTCGGCCGGACACGGTGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGCGTTTGAGGCCAGC CGGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAG CCGGCCATGGTGGCACGCTCCTGTAATCCCAGCTACACAGGAGGCGGAGG CAGGAGAATCTCTTGAACCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTG CACCACTGTACTCTCCGTCTCAAAAAAAAATGGGTAATTTTCTTCTTTTC TTTTTTTTGAGATGTAGTCGCGCTCTGTTGCCCAGGCCAGAGTGCAGTGG CGCAGTCTCGGCTCACTGCAACCTCCACCTCTCAGGTTCAAGCGATTCTT CTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCATACC TGGCTAGTTTTTGTATTTTTAGTAGAGACGGGATTTCACCATATTGGCCA GGCTGGTCTCGAACTCCCGATCTCGTGATCTGCCCGCCTTGGCCTCCCAA AGTGTTGGGATTATAGGCGGGAGCCACCGCACCCAGTCTAATTATTTTCT TTAGAGGAACTGGTTATTATTTAGTCAAAACTTGCTATCAAAATAGTTTT TCATCCAAGTTTAATGATAAAAATAACAGATATCCATTGTCTGTTTTCTG TCTTGTCTGCTTTTACAGTGCCTCAATTTCCTAACAAATCATATTATCAT ATTTTCTTTCTACTAACACCATAGCACATAACTCTGAGTCTGTTTCTGCC TTTCTTCTTTTGTTTGATTGTATTATTGTTTTTCAAGATAGGGTCTTGCT CTGCCGCCCAGGCTGGAGTGCAGTGGCACTATCTCAGCTCACTGCAACCT CCACCTCCCAGGGTCAGGAGATCCTCCTACCTTGGCCTCCCAAGTAGCTG GGACTGCAGGCGTGCACCACTGTACCCAGCTTTGCCATATTGCCCAGGCT AGTATCAAACTCCTGGGCTCAAGCGATCCACCCCTGTTGACCTCCCAAAG TGTTGGGATTACAGGCATGAGCCGCACCCAGTTTGTTTCTTCCTGCCTTT CTTTTTTTTTTTTTCTTTTTTGGAGACAGGGTCTTGCTTTCTTGCCCAGG CTGAAGTGCAGTGATGTGATCTTGCCTCTCTGCAACCTCTGCCTCCCAGG TTCCAGTGATTCTCTTGCCTCAGCCTCCCAGATAGCTGGGATTATAGGCA TGCACCACCACATCCAGCTAATTTTTTGTATTTGTAGTAGAGATGGGGTT CTCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCGCC TGCTTTGTCCTCCCAAAATGCTGGAATTACTGGAGTGAGCCACAGTGCCC GGCCTGCCTTTCTTTTATAGATATACATACTATAACTAGGACAGAAGTTC CCAGAAATTTTTAGTTGAGGACCTCTCAACAATTAAAATTTTCACCACTA TGATCCTGTTGTCATTAGTATCTAGTATTTGTCATATTACATGAACAGCT ATGGATTTTTATTACACTTATGTCCTCTTAAGGATAAGTCCATAAAATTT AAAGGGCCAGGCAACACACATAGGGTTCATCTTTTCCCTGAAACTTATCC CAAAGGGAAAAAAATACATATATTTCCAGTAGGAGATTTTAGATTTAGTG TTTTACTTGATTATGACAAATGTGAGGTAAGCAGACCTCAATAAGCCTTT CTTTGGCACAAGTCACTATACTGCTTGAGTTTACGTACAGGTGAATTGTT TTATGTAAATCTATTTTTAGTGATTTCAAACTTAATGAATTGGAATATTT TAGAATGTGAAACCTTGTGCTTCAGATATTTAGCCTGCAATGTATCAATT AGGTTAGATCATGTTATCAGCTATTGAGTAGTATAAGACATCAGGCTTGT ATTTGATACTACTTTTACTCAGGTGAAAAGATACTGGGCTGGGCGCGATG GCTCATGCATGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATCAT TTGAGGTCTTGAGTTCAAGGCTAGCCTGGCCAACATGGTGAAACCCAGTC TCTACTAAAAATACAAAAGTTAGCCAGGTGATAATGGCATACGCCTGTAA TCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGGAGG CGGAGGTTGCGGTGAGCTGAGATCACGCCACTGCACTCGTCTGGGTGAGA CCCTGTCTCAAAAAAAAAAAAAAAAAAAAGATGCCTGAAACTCACTGTAC AGTGAGGAACTCCAGACATGGAAGAACTTGACATGGACCTAGAGAAAAAG CAGACACAGAATATGGGCTATCAAGGAGAGATCCAGAGCTATATACATGA AGAACCTAAGAAGTTATTAAAAATCTGTTAGTTTTCACTTTCAATCCCTG GACTTTTTGAAGTCAGTTTTTAAAAATTGAATTTGCTTTTCATCATTTCA TCACTTGATGACTCAGTCTTTCAGACCGTGTTTGGTTTTTGTTGTTGTTG TTGTTGTTGTTTGAGGTGGAGTTTCCCTCTGTTGCCTAGGCTGGAGTGCA GTGGTGCAGTCTCGGCTCACTGTACCCTCTGCCTCCTGGTTTCAAGTGAT TCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCA TGCCCAGCTAAATTTTTTGTTTTTGGGTGTTTTTTTTTTTTTTTTTTTTT TGAGATGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAACGGCGCAAT CTTGGCTCACCACAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCT CAGCCTCCGGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTA ATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGATCAGGCTGGT CTTGAACTCTCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCATGAGCCACCGCGCCTGGCCTTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCATGTTAGGCTGGTCTCAAACTCCTGACCTTAAA TGATCCACCTGCCCCCGCCTCCCAAAGTGCCGGGATTATAGGCATGAGCC ACTGCACCCAGCCGACCATGCTTGCTTTACAAAGCAAGTGATATGTAATA TAAAATATAAATTGGATGGTTTGGAGAGTCCATGTAAGCAACTGATGGAC TTCATTTACTGTTATCGGAAAACATTAGATGTGGCCGGGCGTGGTGGCGC ACACCTATAATCTCAGCACTTTGGGAGGCCAAGGCAGGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0262 a0001c0001t0002g0265	2	344	0.0058	-3591	c.-26 others(16): Show c.-26-4331_-26-741del	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/3			chr5	TogoVar
C22orf31_chr22_29053672_29066831	29061463	TCCATGTT others(3582): Show TCCATGTTGGTCAGGCTGGCCTCGAACTCCCCACCTCAGATGATCCGCCC GCCTCAGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCATGTTCG GCTGAATACACTTTCTAACCAACTGCCATGCACCAAGAAGAGCTCATTCA CAGGGAAATCAATATACTCTGGGGACCATAAAAGCAACACGAAAACATTA ATGCTGCCGGCCTCCATTTCCTGGGACCAACTAAGAGCAACAGAACAATT TGGATAGATTAGAATCACATATTTAAAGAGATCTGGCTTTCTAAGAAATG TCATCTATAGAAATAAAATCACCTTACCATATTTCAGTTGCCTTAAATTT TATTTTCGCTAGCTTAGTAAGGGGAAGAAATATGTATTTTCTCTTTCCTT TTTCTCTCTCTCTCTTTTTTTTTGTTTTTGTTTTAATATTTCTAGTCACC TGTCTTTCTCTGCCTTAGTCACATATGGGCAAATTGCTGTTTGTTTAGAT GTGGGCTCAATGCAGGCAGCTTTGAGCCATTATCTCTAGTATTTGTGATG TCACTTTGGTTTGTGATGTGGGTGTGGGTGGGTGTTACATCATCAGATTT TATAGTTAAATTATGTGGGAAGAAGTTCTATACGGTTTTGCTTCTAGCCT CAGAAACTTCTGAAGTCCTCATTTCCCCCAAAATGGCTTGGATGAATTTT GAAGATCTTCATGTTCTTAAGAAGTATGTTTTGCAGGAAATGTAGTCAAA TATGCAGACCAGATTTGGGGATATGGGTAGTGAGATGCATCCCTACATGT GCAAAAGTGCCCTCCTTCATGTACATAAAGGAGGCACTGTTAAGTTCTCA GAACAGCTGCCAAGGTTAGGGACCAGGAATGAAAGAACACGTTCCTGCAG ACCTGGGCACCTTTCCCTGCATGTCTCTCCCGGGAAGACTACATGGTTTC TGGAATGTGGGTTTCTTTTACATCCCATGGCAAATGCAGTAATTAGAGCT GTTAGCAGTGTCAAGGGCTTGAAAGGAGAACAAAGCCGCCTCTTCCTGGG AACTCTTGGGCAATGCCTCACTGCTTATCAGGTGCTCGTCCTGTTGGTGG GTTTGATTCTTTTATTTGTAAAATGCCTCAGGAGCCTCCCTCCTGAGGGG GAGGCCAGTGAAATGATGGAAAAACAGAGTATGAATCTGGCAGGGGCTCC TGGAATCGCATGTGTTGCCTGCTTGCGTTTTTAAGTGTTGTCCCTGGAGT GAATCAGAGCCTGCAGGCGGACCGCACCACAGGCTGTGGTGGAACCACCT CCAGGCCTATGGCAGCTGGACCCACAGACAGTTGAGAGGACAATTGCTCC CTTTCAGTGGCGAGCCCTGGCCTCACCTCCTAAGAGCTGGGTCGATTTTA GAGCAGGGCTTTGGAAAGGGTTTGTCTTTGGGAAGAGTTTGCGAATGTCT GGAGACTGGGCAGGCAAGAGTCTTTTCAAAGCTGGTCAGTCTTGGAAAAA TGGCACCGGGCTCCTGGGCTACCTGGAAATTACCATCTGTCTTTACTCTG CAAAGCAGGGACAGGAGGGAAATGTCAAGCAAAAAAAGGCATAATAGGAG TAGGTCATCTGTTTCTCTTTTCTCCTTCTCCATCTTGAGTTTGGCTTTCC TGCACCTCATCTTTCCACACACTCATCCGTTAGATTTACTCTGCTAGGTC TTTTACTCAATGACTCTGCTTGGTCTTTTACTCACTCTGTCCCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCTTCCTGGGGT TCAAGCAATTCTCGTGCATCAGCCACCCAAGACGCTGGGATTACAGGCGC GGACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGTTTTC ACCATGTTGGCCCAGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCC ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTGTGCTCAGC CTCAATCTCCTTCTTCCAGCAGAGAGCTGTTCACATGGGCAGCACTTGAT ACATACTCTTCAAGTTCTATCAAATTCTGCCTTCTCTGCCTTCATTGTAA CTCACTTCAATTGACTATGCCACAACAGGTAACCCTCAGCCTTCCTTAGA ACTAACCCAGGGTACTTTGTTCTAAGCTATTTCTCCTATGTCAATAAAAC TAATATTTATTGAATGCTTCCTGAAGGCCAGGCACTGTTCTAGCCACTTT ATTAGCATCATGTCATGAAATGCTACCAACCATCCTATGAGTTTGAGCAC TGTTCCCTGTTTTACAGATAAAGAAACTGAGGCACAAGTTGCTCAAGTAT CATGCCTCAAGTAACCAACAAAGGCTGAACCCAACCAAAGTCTATACTGC CCTTGTTTTTGTTTTTGTTTTTGAGACGGAGTTTCACTCTTGTCACCCAG GCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCCCCACCTCCCAG GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGC ACGCACTATCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTT TCACCATGTTGGCCAGGCTAGTCTCAAACTCTTGACCTCAGGTGATCCAC CTGCCTTGGCCTCCCAAAGTGCTAGGAATACAGGTGTGAATCACCACACC CAGCCCTACTGCCCCTGTTCTTAAACACTCACAGTTATCACCGTGATGCC TGGCCTCTCTGTTGGTCAGCCCATCCATCTACCATACCCGGGCCCAGTTC TAGTCCTGTCCTTGTCATGAGACTTTCTCTAGGCCCAGGAGGGAATCTGC CTGTGATGGCATCCCAGATCCATCTTTCATTAGGCAAGTGAATTCATACC CCTGAACCTTAATTTCCTCAGCTGTGAAATGGGCCTAGTCATACTGCCTA CCTAAGGGTTATTGTGAGTTTGAAGTGGGACAATGCATCTGAAATACTTG GCATGGCTCCTGGTGTATATAGTAAGCACTCAATGAATATTTGCTTTTTT GTGTTTTTGTTTTTGTTTCAAGACAGGGTCTCAGTCTGTCACCCAGGCTG GAGTGCAGTGGTGTGATCACGGCTCATGAGAGCCTCGACCTCCTGGGCTC AAGCAATCCTCCCACTTTGGCCTCCCAAGTAGCTGGGATCACAGGCTTGT TTTTGCCCAGTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGTAGAGATGAGGTCTCCCTGTGTTGCTCAGCTTAGTCTGGA ACTCCTGGTCTCAAGTGATCCTCCTTGGCCTCCCGAAGTGCTGGGACTAC AGCTGTGAACCAACACACCTAACCCATGTGAAAGTTATTTTTTACTTATT TATTTTTTTGAGATGGAGTCCCAATCTGTCACCCAGGCTGAAGTGCAATG GCACATTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCT CCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGTGCACCACCACGC CCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGGTTTCA	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0130 a0003c0012t0002g0130	1	472	0.0021	-3589	c.-32 others(11): Show c.-3260_3+326del	C22orf31	ENSG00000100249.5	transcript	ENST00000216071.5	protein_coding	1/3			chr22	TogoVar
GYPC_chr2_126651158_126701667	126691222	GAGGCTTG others(3578): Show GAGGCTTGCTCTGCAGCTTCAAAGTAAATGCCCAAACTCAAAACACCCCC ACCCCATGAGACTGCTGCCCCCTCACTCTCAAGGTCCTGAGTGATCTGAC CCCTCCTGAGCAGCCTTACACTGTACTTCCCCACCCCTCTGGAGTCCCAG CAGAAGTGAGGGGTGACTGCCCCTCGCACAGCCAACACCTTGGCATTCTC TGCGTTACCCTCTCCCACTTCAGTCCTTTGTGTGGCCAAGTCCTGCTCCT CCTGCAGACTCACCCCAGTCCTCAATCGCCAGGAGGGAATGGGAGCAGGG TAGGCTGAGGAGCAGTCATCGGGCCATTGAAAAACACAAACCACACAACC TGCCCCAAGCACAGTTAATAGCCTCATTTTTCCCCCTGTATAGTGTACAT ACAGCAACCAGCTCTGCCCTGTTTTCTGGGACTTCCCTGGTTTTAGAATG AATAATCTCCAAGCAGTGTTCTTGCAACTGTTGCAAGGACCATGTTAAAT TGCTTTAAATGTTGAGACCTGCACCTGGCACCTAGTAAGCGATTGTTAGT TGTTTTAAAGGAAGAGGAAATAACAGTCTCTTCTAACGCTGATTGTGTTG GACAAACTGTCCTAATAAATGCTGTCTTCACCTGGAAAATTTCTGAGGGC AGTTCTGGGTATTTGAGCTTCTATAACCATCCATGCCTACTTAAGCAAGG TGTTATTCTTTCTTTCTGAACTTTGAGGTGCTTGTTGATTGGAAAAGTCT AGAACCCCACCACTAAATCCATTCATTTATATATGCATGCATTTACTCAT GCATTCAGTGAATATTTATTGAGTACCTACTATGTGCTAGATACTAAACT GGAGGCTGCACTTGTTCACTCTATATAATAAAGTCTAGCACCCACTTGAA CTTGCTACGGCCCTTGCTTCAGGTCTTGCTACTGAGAAACACCGTGAATG CTGGATCCTATACCCTGCCTGGTTCCTGGCTCCCGAGACCCAGATCCTGA GCCAGTGTTCACTGGGTCCCTGGGCTGCCTCAGTGCCTTGTATTATCTTC TTCCCCACCTCCAAGCTCCTTGGTGGCCCCAGACACCCCTAGCTTGGCCC ATCTGTGTCCTGCTGTGGACCCCTAGCTGGGAGTCTGTTTTCCCCTCACC CATTATGACTCCTGACTCCAGCAGGCAGTTACTTATAAGAAAGAGGCATC TGGCAGCTGCACTGGGGAGAATGACCTCATAGCACTATAATTAAAGTGAT TATCTGAGTGGAAATGACTATTATGAAGCATCCTTCTCTGTTTTATTATG TAGAGCCATTGTAATGGGAACGTGGGATTTCCTATGTTAACACTGATATT TCTGTGATCCAATAAATCCTTCTTCACAATCATCTCCCAGAGGAGAGAAG GCATTCTGTGCAGCAGCTCTAGGAAACATCCCGGTCCCCAATGTCCTAGA CATCCTACCCTCTTTGGCCAGGTCATTAAGCTGTGAAAAAACACACTCAG TAACTTGGATAGTGTCATAGAGTGGTCCTTCCCACAGCAGAGTCAATGTA AAGACCTATGGGAGGGCTTCAGGAATGACTCCTCAGACAGGAGCCCTGGG AAGGGCTTCTCCAAGAGAGAAAGTGCACTCCAGAGGCAAGAGCACTGGCC AAGTCCTGACCTGATATCGGATGAGCTGTGTGATCAAGGGCACATCACGT CTCTGAACCTTGGTGTTCTTCCTGTGAGATGGGCCATTAACACCAGGCAC CTCATAGGATGGATGTGAAGACTGCATGATAGAGTAGATAGAAGGCAGTT AAAGCAACACCTGGTGCTATGGTTTGGATGTGGTTTGACCCTGCAAAAGC TCATGTTGAAATCTGATTCCCAAGGTGGCAGTGATGGGAGGTGGGACCTA GTGGGAGATATTTGAGTCACAGGGGCAGATCCCTCATGCATACATTAATA CCCCCTTGAGGGAGGGAGGGAGTTCTAGCTGTCGTGAGACTGGATTAGTC ACTGGAGAGCAGGTTGTTATAAAAGCAAATTCAGCTTTCTAAACTCTCTT GCTTTCTATATCACCTTGTGGTCTCTTTGCGAATGTCAGATCCCCTTCTG CTTTTTGCCATGAGTGGGAGTAGTATGAGGCCCTCACCAGATGCAGCTGC CCAATTTGGACTTCCCAGCCACTAGAACTGTGAGCCAAATAAACCTCTCT TCTTTATAAATTACCCAAGTATTCAGCTATAGCAACACAAAATGGACTGA GACACCTGGTGTGAGCATCAGACACTCCACAAACATTCTTTCTTAAACAC AACAAGAGTCCCTGCCTTCATACACAGCACAGATATCTGTTGAGCATCTA CCACGTGCAGCACCACTCTCAGTGCAGGCATTAGGCAGATAACTCAAATG GGCCTGGAGTGACCTGGTGGTTCAGGTTCAAACAGTTCCATCCCAGTCAG TGACCAAGCAGAACCTGGTTCCTGGTCTGTGCATCCCTGCTAGGAGCAGT GGGTGCGCCGCACTGCTCCTTTCCACTTGGACCCATTCTCAGAGCTGCTC ACACCTGAGCAAAGGATGCAGCTTGGGCCAAGGTGCTGCTAGGCATGGAG AATCTTCCTCTCTGACCTCAGATTCTTGTCCTCTGTTCACAGAGCCTGAT CCAGGGATGTCTGGATGGCCGGATGGCAGAATGGAGACCTCCACCCCCAC CATAATGGACATTGTCGTCATTGCAGGTGAGCTCTCATCACAGAGCCCTT CAAGCAGCCAGGGTGGGGGGCCTTGGTGAAAACATCCAGGGGAGAACTGA CCTAAGGACTTGGGCAGTGGTGGCTGTGGCCATTTTTTCTCTCCCTCAGA GGTGGTTTTGAATGTGGAATGGAGGAGTCTAGCCCTGGGTAAATATATAT ATACATGCATACATCGTACGTATCTATGTATGTATTTATTGGCCTTTCTC AGGGCTTTTGACTCACAGGAACTCAGGAGCTGGAGAGGCAGCAGTTTTGG TGAAGGAGGTTGAGGGTGGAGGTGAGATGAGGGTAGACTGACCAGGCTAC TTAGACTTCTCCACCATCTCCCTCATCCCACATTATTTTCTGCCCTGGGT CCATGACCCTCAACCCTCCATCCTCAAGGAAACTTGATCCTGCCTTTGCC TTGCTTTGAACCCTGGGCAAGGGGCTCCCCATGGGTCATGGCTGTGACTG CAAACTGTGTTTGAAGAACAACCAAGTTTGGGAGGTGCTGTGTGCTCTGC GACCTTCTTTGAGATCCACACTTCTCAGCAGCTTATTAATAACTCAGGAA ACATCTACAATTTGAAAAGAAAGAAAAAGCAGCAGAAGCAAGCAATCAAA GACACCTGTTGGACTCTGTGTAACCTGGCATTCTCCAACTCATTGCACCA CTGAGCTTTTATTCTTCCTAGATGATATTATTAACATTATGCAGATACAA GTGTTCCCCTGAAGGCAGTAGGAAGTTTAGGAAATTGTTCTATAAAGGTG GGACTTGGGAGCAGTTTCAGACTTTCCATATTCTTCAGCAGTCCCTCCCC AAGGCCTCCAAATAAACCTGCATTCTAAGAAAAGAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp1 HG02300.hp1 HG01934.hp1 HG02300.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0322 a0005c0007t0002g0326 a0005c0007t0002g0322 a0005c0007t0002g0326	2	416	0.0048	-3585	c.106 others(15): Show c.106+988_190+936del	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NDUFAF2_chr5_60940205_61158026	61105089	TGGTTGAC others(3577): Show TGGTTGACATATTTCCTATGCCATGACAGTAGTTATACTCTGGTCAGATG TTACTGGCCCTGCAGCTATTTTTTTGTTTTATCCTTTTCCTATTTCTGCT CTGGCTTATGATGTGTTGATCTTATAGTTTAACATTCAGAGAGGAATCTT ATTTCTGGATTTTTCAGGCCCATTTCAGTGTTGTCTCTAAATAACTGGCA TTCATTGAGTAAGTTATCTGTGCCCAATATTACTAGGTTCATTTTATAAG TTACAGAATTAAAATGTCTTAAAATTGCCATTTTATGTATAGAATCCTAC TTCCTGATGACTTAAATTGCAAAGAGTGTATGTATGTATTTATGGTTAAA TGGACCTCCCACTCCTCACCCCAAACTTCACAATATCACTTTTAGTAACA TAGTGGAAATGAATAAGAAAATTGCAGCATGTTCATACCTGTTAAACATC ATTCATTAAAATGAATGAAAAAAAAAACTTAAGAATGAACTGGAGCTGTA TGTTTTAACATGGATAAATCTCAGAAGCAATGATACTGAGCAAAAAAAAA AAAAAAGCAGCTACAGAAGATGTCATACAATATACCATTTACATAAAGTT TGAAAGCAAGGAAAGTATAAAGGGCTTTCAAGTAAAGATAGTGGGTCAAA CATGTAAGTTCACTCTCAAGTCTAATGAAAATGATAGTGAAGGAATTTAT TTTAAAAGACATAAACCCACAAGGTCATAGAAACGTGAGTATGCAAACCA TCAATAAAGTTTTGGAGGCAGGAAAGCAGATGGACAAGAGGTAATGGATT TAGTGAAACTGAGAAGAATGAATCCTAATCTGGCAAGGGAGAAATCTGAG AAGTAATCCAATTTAAACCATAGAACCACAGAATGCTCAGTAACTGGCAG TGCCAGAAAACTCTGAAAGTGGAGTTTAAGCTCGCACTAAAAACAATGAC CTAGTTAAAAATCCGTTTAAGAAGCAATTAGATGCTAACCAATAAATATA GAAGAAATAACAGAGTTGGAAAATCACCACTATTCAAGTGATAATTGGGA AAAAATTACCAGCAGATACTAAAATCATTGAGTCAAACTCTGTTGGGGAG CAGGCTGTTTACATGGTCTAAAGGCATTTCCCTACAGATTACTTATCAAT TACAAAAGGGGAAAAGGGACCTTTCTAGTAGACAAATCTGACAGATACCA CCTTAACTAGATGGTCAGAAGTTGTACTAAGTAGGGCAGATTTATATTAT ATGTGCTTCTTTCTATGATGCACTGAGGATTAAACATTATTCACATAGTA TTCTTTTTTTAATTTTTGATTTTGTGGGTACTTAGTAGGTGTATATACTT AGAAGGTTCTTGAGATATTTTGATACGTGCATACAATGCGTAATAATCAC ATCAAGGTAAATGGGGTATTTATCACCTCAAGCATTTATCCTTTCCTTGT ATTACAAACAATCTTAATTATACTCTTTTAGTTATTTGAAATATACAATA AATTATTGACTGTAGTCACTCTGTTGTACTATCAAATACTAGATTTTATT CATTCTATCTAATTATATTTTTGTGCCCATTAACCATTCCCACCCCCCCT AACACCCAGACTACCCTTCCCAGCCTCTGGTAATCATCCTTCTACTCTCT ATCTCCATAAGTTCAACTCCCACAAATGAGTGAGAACATGTGAAGGTTAT CTTTCTATGCCTGCCTTATTTCACTTAAAATAATGACCTCCAGTTCTATC CATGTTGTTGCAAATGGCAGGATCTCATTCTTCTTTATGGCTGAATAGCA CTTCACTGTGTGTATATATCACATTTTCTTTATCAGTTGATCTGTTGGTG GACATTTAGGTTGCTTCCAAGTCTGCACTATCCTGAATGGTGCTGCAGTA AACATGGGAGTACAGGTATCTCTTCGATATTCTGATTTCCTTTCCTTTGG ATAAATATACACACACACACACACACACACACACACACACACACACACAC ACATATATGCCTAGCAGTAGAATTGCTAGATCATATGGTAGTTCCATTTT TAGTTTTTTCAGGAACCTCCAAACTCTTCTCCATGGTGGTTGTACTAATT TACATTCCCACCAACAGTGTACAAGGGTTCCCTTTTCTCCACATTTTCAC CAGCATTTGTTATTGCCCATCTTTTTGATAGAAGCCATTTTAACTGGGGT GACGTGATATCTCGTTGTAGTTTTGGTTTGCATTTCTATGATGATCAGTG ATGTTGGAGCACTTTTTCATATACCTGTTTGCCATTTGCATGTCTTCTTT TGGGAAATGTCTATCCAGATCTTTTGCTCATGTTTTAATCTGTTCATTAG ATTTTTCCTATTGAGTTGTTTGAGTTCCTTATATATTCTGATTATTAATC CCTTATCATATGGGTAGTTTGCAAATATGTTCTCCCATTCTGTGAGTTGT CTCTTCACCTTGTTGATTGTTACTTTTGCTATACAGAAGCTTTTTAACTT GATGTGACCCCATTTGTGCGTTTTTGCTTTGATTGCCTATGCTTGTGGGG TATTTCTCTTTTTTTAATTATGATTACTATTATTATTATTATTATACTTT AAGTTTTATGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATAC ACGTGCCATGCTGGTGCGCTGCACCCACTAACTCGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCC CCAGAGTGTGATGTTGCCCTTCCTGTGTCTATGTGTTCTCATTGTTCAAT TCCCACCTATGAGTGAGAAGATGCGGTGTTTGGTTTTTTGTTCTTGCGAT AGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGA CATGAACTCATCATTTTTTATGGCTGCATAGTGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTGTAACTGGTGTGAGATGGTATTTCATTGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGGTGAGCATTTTTTCATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCTTATGGGGTATTTCTCAAGAAATCTTTGCT CAGTCCAGTGTCCTAGAGAGTTTCCCCAATGTTTTCCTTTAGAAATTTCA TAGTTTGAGGTCTTAAAGTCTTCGATCCATTTTGGTTTGATTGCTGTTTA TGGTGAGAGATGGGGGCCTCATTTCATTCTTCCAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02818.hp2 others(4): Show HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0144 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148	7	266	0.0263	-3584	c.258 others(17): Show c.258+6058_258+9641del	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	3/3			chr5	TogoVar
CTNNA3_chr10_65907523_67701195	67505446	GCACCAAA others(3574): Show GCACCAAAAGTACCAAGAAGGGCTTCAGTAACTCCCAATGTTTGGATGGG GAGCTTAGAACAATAGAGATAAATACCAACATCAAAATGAGAGGGAGGAA ACATTATAATTTCTTCATTAAGCAAACAGTAAGGTTAAAACAAAATATGT AACTTAAACTTCAAAGCACAAAAATAATTCTTCAAAATATTCTAAACATT TTCATCCAATAAGTACTCCGTATCAACAATCAGCACCTCACTTGGAAAAT CAGTCACAAGTCAGCTGTTAATGCTGTGTGGATGCAACCACAGATCATTA CCTACTTAATTGTGTATACATCTAATAGGCTCATACAGCTCTTTTAGAAC AAAGGTTTTATAATGGAGTAGATGATAAATACTGAACTGTAGTGCTACCA GGTGCTATACTAATATGAGCAGAATTTATATAGAGAATTTTAGCCTGTAT TAATGCTGTAACTAAAATAGAAAAAAATGATTTAAAATCAGGTTTGTAAT AATACAGTTAAAAAAGAAATGCAATATTACAAGTTCATATTGTGGCATCT TGCTAAAATCCCATAAGTGATACTAAAAATGTTAAGCTAAATATAGTTTA TCTGGTCAATGAATGCAACTGTCAGTTGACCACAGAAGAGAGAAAAGCAA TTTACATTGTAAAAATTTAAAGACATCCAATCTAAAATTTAATGTTGACT CTGAAGAATATCAATTAATTTATATTTTCTGTCATTTGAAACTAGAGTGT ATGAAAGTAAACCTGTACATACACATACTCTTCTAAATCATTGAACAAAA TATGGAGCAAACCAGCAACACTACTCCATCTTCTGGTGACATTTTCCCTC ACCTAGATGTATTTCAGTGTAAGTGTTTCTACTGCTGTCACATTTGGAGC ATGAGATAGGGTATAAAAGATGATTAGCTTCTTCCTAAATAGCAAACATG AAATTGTCCAAACATGATAGTTTAGAGAGCAAAAATAAGTACGCCTTAAA AAAAATAACAGAACAAACTAAACTTCTCATTACATATTAAATTAGCCCTC AGGTAATCAGCCCCTAACAAACAGCTTAACATCTACAAAAGGCTGCATGA CTGGTGTGTGCCTGTTTAAAGCTCTGCTGTAAGCTGAACTGTTGGTCTCA GCTAGGCATCCTCAACATTTCCTTTGAATTTTAGCCAACAGTGCCCTAGG CATGCTCCTAGCACTACTATTAACAAAACAGCTGTAGTTGAAGCAGTAGT CTTTTTGCCTGACAAGGACACCGTAACAGTCATTGTGATGTCTTCTGATT GTGAACACAGGTAGAGATGTACAGCTTGGATACAAAAATTTAATATGAGT GTATTTGAGATTATAATTTTTACTAGTTGTATAGTAAATATGTGACTAAG CTTGCTTTTCTGAAACAAATGCTGCTGAGTCAATACCAGACAGTCCCATG ATCAGTTTGGCCAAGTCACAGTGGACAACCCAGAGCTAAAGTATGACATT TTTACTCTTCTTCAGCTCCCTGTACCTTAGTCTCAGCTGTTCCCATATTC AGTCTCTTTAGCTAGACTAACAAAAAAAGAATGGAGACTCAAATAAAACC AGAAATAAAAGAGGAAACATTAGAAGTGATACCACAGAAATACAAAGAAT TAAAAAAGACTCCTGTGAACTATTATATGGCAAGAAATTGGATAACTTAG AAGAAATGGATAAATTCCTAGACACATAAAAACTACCAAGATAAAATCAT GAAGAAATGGAAAATCTGAATAGACCAATAATGAGTAAGAAAATTAAATC AAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCAGGTGGATCACGACGTCAGCAGTTCAAGACTAGCCTGGCCAACAT GGTGAAGCCCAGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGG CACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCT TGAACCAGGACCCAGGAGGCAGAGGTTTCAGTGAACTGAGATCATGTCAC TGCACTTCCAGCCTGGGCTACAAAGGGAAACTCCATCTCAAAAAAAAAAG GAAAGAAACAAAGAAAAAAAAAAAGAAAATTAAATCAATAATTAAAAAGT CTCATCAAAGGAAAGCCCAGGACCTGATGACTTCACTGCTGAATTCAACT AAAATTTAAAGAACTAATACCAATTCTCAAACTCCTCCAAAAAACTGAAG AGGAAGGAATACTACAAACTCATTTTATGAGGCCAACATTACCTGACACC AAAGCCAGACAAGGAGGCTACAAGAAAAGAAAATTACAGGCCAATATTCC TGATGCACAAACATGCAAAACTCCTCAACAAAATACTAACAAGCTTTAAA AGACCATTCACCATGATCAAGTGGTACACCACATTAACAGAATGGAGAAC AAAAATCATATAAACAACTCAATAGATGCAGAGAAAGAATTTAACAAAAT TCAACATGCTTTCATGATAAAAACCTCTCAACAAATTAGATATAGAAGGA ATGTATTTCCTTTTTTTGTTGTTTGTTTGTTTGTTTGTGATGGAGTCTTG CTCTATCACCCAGGCTGGAGTACAGTGGCGCAATTGTAGCTCATTACAAC CTCCACCTCCCAGGTTCAAGCAGTTCTCCTTCCTCATACTCCCGAATAGC TGGGATTACAGGCCCACACCACCACACCTGCTAATTTTTGTATTTTATCA GAAACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGACTCCTGACCTC AAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCGTGCCTAGCAGAAGGAATGTATTTCAACACAATAAAGGCCGTAT TTCACAAGCCCATAGTTAGTGTTATGCTCAATAGTGAAAAGTTGCCAAAA ATACACAATGTGGAAAAAATAGTCTCTTCAATAAGTGGGGTTGGGAAAAT TGAATATCCACATACCAAAAAACAAATTTATTTTTATCCTACATCACAAA CAAAATTTAACTCAAAATGGATTAAAGCTGTAAACATAAGCCCTGAAACC ATAAAACTACTATAAGAAAACAAAGGGGAAATGCTCTATGACATTAGTTT TCACAATTTTTTTAAATATGATGCCATAAGTACCAGCAACAAAGGCAAAA ATAAATAAGTGAAATTATATCAAACTAAAAAGTTTCTGCACAGAAATGGA AATAATCAACAAAATGAAATAGTAACCTATGGAATGAAATAAAATGTTTG CAGACCATACATCCAATAAGAGGTTAGTATTGAAAATCTATAAGGAAGTC ATTTAACTCAAAAGCAAAAAAGAAAAGAAAAGAAATGACCCACAAATAAC CTAATTAAAAATGAGCAAAATACCTAAATAGACATTTTTTTTTTTTTGAG ACCTAAGTCTCGCTCTTGTACCCCAGGCTGGAGTGCAATGGCATGATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAG CCTCCCGTATAGCAGGGATTATAGGCACCTGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	1	46	0.0217	-3581	c.579 others(19): Show c.579+12815_579+16395del	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
ALS2CL_chr3_46663995_46698679	46664257	TCTGTCAT others(3571): Show TCTGTCATCAAATGACAGGGGGACAGCCAAGAAAGGAGGAAGCCAGGCAT CAATGGAATCTCCCATCAGCCTGAAAAAGTGGCAATCACCCGCCAGGGGC AGCTACCCCAGACCTGGGGTCTGCACCAGCACCTCAGGCTCCTTGTGAAC TTCACCACAGCGCAGTCCCTGAGGAGGCCTGGGCCTGATTCACAGACAGA TCAGCCAAGCTACAGGACCCACAGAAAACACTGATGAAAGCTGCATATGA AGAAAGAAGTCTGGCCAGGGGCAGTGGTGCAGGCTATGGTTCTTGCCCTG GAAACAGCCCCCACCAAAGTTCACAGCCAGTGGGCTGACCATGTGGTCTG GCACTTGACAATGGAACAACTGGATGTCAAGTCCCAACCCTGGTTGGGAC AAACATTAGGCTTCAGATTGCACAGGGCCCAGGGCCTCTGAAAACCCAGT GAAAAGGACCCCTTGGCAGTGAACGTCAGTGAAACCAATAAGCTGACCAA TTCTGCATAGCCCAGGTAAGCATCAGAGCCACCTGGATACACCATCACAC GAGGCCTGGCCATCTGTCCATAGCTCAGGACTGGGGCCCACGTCAAAGCC TAGTGAGGCCAGCACATGAGGCCAAGCAAGCCTGCAAGTGTACCAGCTCC ACAGTCAAGGGACAAAGTGACTCCAGTGCACACAGCGACCTGTGCACTCC AGTACACTGACCTGGCCAGTCCTGGAAAACAGACTCCACGGACCCCTTCC CCTTCTGCCAGGAGCACCACTGGGTGCTGACGACCGTAGATGCAGCAATT CCCATCTGCGGGGAACGTGGGCCGTGCTGCTTGACAAGTCCTAAATGTAC TGCTGCATATCTGAACTCCTGGAGCACATCCAGTCGGACAATGATGCCGC CCTCATAGCCAAGAGAACCAGCAATAGGCAGCTATCTGAGGGCTGCTGTG TGGGACATTTCATGTCGCCTACCACCCACAGACAGCAGGTGACTTAAAAG ATGAACTAAAAAAAAAAAAACTGAAAAGATAAGTGGACTCTAATTGTGGC AATTCTCCAGGAAGGTACCATTCATTTAAATAAAATATTTAGTTATGAGG TAGGGAGGGGGAATAAGAAAAGACCCACACTGGCTGTGAGAGACCCTGCT GCATAATTCATCCTCCTCACTCTTCTCTGCCCACCTCCATCCCTGCATGG AGGAACCCGGGCTACTGACCCGTGGGCTGCAAGGTGGGGGTTGGTGTGGG AGATGCTAATCCGGTCACTCTTACCTCCTGGCTCTGCGTGCGAGCGCTGG GCAGTTGTGGATATTGATGATAATGATCATGATCATTATCTCAGGCGTGA TCACTCCTAAGAGTGCCGCTGGCGCAGCCCGCACGTCTGGGGTGATACAT AGTAATCACCTCCAGAAGAACACTGTGGGTTAGGAATAGTGAGGATTTCG AAAAGCGGAGCAGCTCTGCTGGAGGAGAAGGAACACCCTAGGCTCCCGGA GGCATAGAGAGGCCAGACCATTAGCGTCTTTTGGCTCTCGCCTGCAGGAC ACCTGGCCCACCTGTCGTCTCAGAATGCTGTGGTCACCTTGTCCCAGACC ATTACCACTGCCCTCAGTCTAACTCCTGGACACCCATTCTCTCAAGAGAG CCTCAACTGAGGACTGTTGACTTTGGAGGCAAGACAGCCCCCGCCAAAGC AATGAAACATGATTAATTTTCCAGACACTGATGAGGCCTCCCTTGGCCTC ATCTTATTATCGCTGGTACCCTACTGCCAAAACAAACGAACAAACAAACC AAACACTCTCTTGTGTGCTTTTCACAGATCATAGCTACTGCTCTGAATTT AATGAGCCACTGGACCTATCATCCTCCACCTGACCCTGATGACTAGACCG CACTCCCTCATTTCCACCTCCTCCCAAATACTTTTGGACATGAGGGGCCA GGCCTCAGCCAGGGGGCATATGAGAAGATCACTTTGGGAGAAACTTGCCT GTCTTGAAGGCAAGGAACAGGGACAGGTGGCCAAACACCTGGGCTCCAGC TCTGCACCTGGTAGTGCTGGAGTCGTGCAGTCACCCAGCTGGCACCTGGG CTCTGGTATGAGGCCGTGTGGGTCCAGTCCATCATAGCTACTCAGCCCCC TGTTTATTGGGGACAGAGTGTGTGTTTCTGCTTGCTCCTGAGGGCCTAGG TTTCCTGGGTTGTGACTCCTGGGGCTTTGGTCATGAGGAAGTTGAGATAA AGCCCATAAAGTGCTTAGCCCGCACGTGGGTCCTCTTCAGTGCATCCAGA GCCCAAGCGGCATCTCTTGCCTGCCCTTCACAGCAAAGGGTGCTCCTCAT GGCAGAACAGGGTGTCTGGGCAGCTCCTTTGCTTACAGACAACAAACAGG ACCCAGTTAGGAAAAGGACTTGGCCAAGGTCCCAGAGAGACCAAGACCTG GCAGCCTGGACCCCATCCCAGGTTCTCGCCCGCAGCAAGAGTAAACACCA GAGTACGTGTCTGTACAACCCTTGACAAAGCCAACCAGAAAAGCCCTGAC CCGATCTGAGCTTGACCTTGACCCTCATTCTCACTCCAGTCCCTAAATCT AACTTGACACTGACCCTGACTTCAACCCTAATCCCTAATTGTATCCCTCA CACTGACTTTAACCCAGACCCTCGCCTTATCCTTTCCCAGGTGCCCATAA GAGGGCAGCCCCTGTCCCCTGCTGGGCCCCAGTGGTCAGCCGTCCCTCTG GGAGAGTGACAGCTGAGGTCCTGGGGCCCTCCTTAGGGCCCTACTAGTGA GCATCTGCTTCACTCACACAGTGACACTAAGCACCTCTCCAGCAGCCCCT GGTCACCCCTCTGGCCTCAGCATCCCTCCAGCCTTCTCTGGAGCTGCAGT AGGCAAGGGGCATGCACAGTGGGCACCCTGCTCACGCACTGGCTCCAGCA TCCTCGGGGGTGGTGTGAATGAACAGAGGCTTGGTCAGCACTCGGGTCCC TCAGATGCCTGCCAGCTCCCACTGTGGGGCAGCTGTTCCAGACCATACTC CAGACAGGGAACAGGGCTGCCATCCAGGAGGCCCCTGGGGAGGCTCGCTG ACAAAGAAGTCAGCAGTCCCTTCAGAGGACTTCATGGGGCCATGCTGTGC CCTGGTCCCTTTCAGAACGCCCTCTCCATCCACCACTACCTCTGGGTCAC TGGCTATAGCCTGGCCACGCCACTCTGTGGCTTTCCTGCAGCTGGAGCTC CAACCAAGCAGTAGGGCAGTGCCTGGAGGTGTCCTGCCACACTGGCATCA TAGCTGCCTGGTGTGGGCACACGGCCCCAGGAGGGCCAGGCCTGAGCCTC TGGTGCCGTGTGTGACTATGGAGCAAGGCACAGAGGGTGTCCATCTTTTC TTCCCCTTCTCCTGAGGCATCAGCATCAACTTGCTGTCTACTCCTGGCCT GTGTTTGCCCGGGGCTCCATTTCCCTGGGGCCCGTCCATCCTGGACACAC CAGAGGGGTTGTTTGCACGGATGCTTCTCCAGCCAGTCTGAGATGCTGAC CTACTCTGGGGGTCAGGCCCTTCAGAGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0022 a0002c0003t0008g0022	1	390	0.0026	-3578	c.31 others(11): Show c.3149_*6726del	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding		4737		chr3	TogoVar
FGF1_chr5_142587178_142691090	142615486	TGCTGGGA others(3571): Show TGCTGGGATTACAGGCGTAAGCCACCGCGCCCGGCCTGGGAGCTGTACTT TGTAAGTGTGAGTAGTGAATGTGATCATCAATACATATTGATTATCAAGT GGTCTTAGAATAAAAATCATCACCCTCATCATTAACGTATTTTGGGCTAC AGGTTATCTCAAGTAATCTCACCATAATCCCTTGAAGTGGACACTAATAT TATCATCATTTTTAATAAAACCAAAGCTTACAGATGTTCAGTGACCTGCC CAAGGGCAACAGCTAGTAAGCGATGGAGCTGAATCGCAAAAGGAGTCTGG GAACAGAAAGCCCCAATTTGCCCTTGATCACCATGAAAAGGTTTAGTGAC TTTATCCACACTAGTCTTTTTATGAGGAGTGGGGTTTTTACCCATTGCCT GACATGTACATCTGCCACCATTAACTTGTCATTCATATATTTATTTGTGA CCCAAAGGTTGGCTAGTCTCCACCAACAGCCTCTCCTTTTGCCCCCATGC CATCTGTGAAACAGGACTCCATGCATCTCCACCTTCTCCAGGAGAAGCCC ACCCCAGCAGCTTCGTGAGCATCATGGAAGACCAGCAGCTACCCTGCCTT CCCTGCACTAACCATCCATCAGTGCCTGTAGCAGCTGTGCGGAGCTGCTC TCATAGGAGATGGTTCCATCATAAATCAAGACACCAATTACAATAATTTG TCCTTATGACTTTAAAATGAGGGCTCATGTTGGAAGCCTCCATCTGTTTT CTCTGCTCCTGGCATTTTAATGTTTCTGGTACATTTTTCCCACTCTGCCA CCACATGGGCCAGCCATTGTCCCTGGTTTCAACTAGTGTTGGAGGTGCCT CCAAGAATCCCAAAGAGAATTTCGCAAATACCATATAAACTATATTTAAA GTCAGATCATCCCAAATGTCCCCTCCATCCCATATGGTGAAACTTCGATT AATTCTTTTCACATAATACAGCAACAGACAGAAAATAAATATAATACCAC ATATATGTAATTTTATTTATGTCAATTTCACAGAGAGGATTGCAGAGTTT ACCTTGCATAGTACAATCTCTCTCCATCCTCACTGTCTCTTCCAAACCTT ACTTTCTTATCCATAAGCCTCTAAGTCCTTCTGTGTCCACCTCTGGCTCT CTTACTCTCTGTCCCTCTGTCTCTTCCTGTCTCTCCACTCACTCCTCTCT CCACCCAGCCTCTCACTCTAACTCCTCACTCCACTCCCTTCTGGATCCAC TTCTAATGTAAAGCAATTTAGCTCTTCCCAGTGTGGATATCTTTATCCCT CACCTCTCTATTAGCACTCAACCATCACCAGATTCCCCTTCCTTAAAATA CAACTAAGAGGTAATGATTTTTTTCTTTCATTTATTTTTTCCAAGCACTT CCTAAGTTATGTACTTCATTTGGTACAGGAGACAATAATTATATACCAGT GGTTGCCACTTAACTGCACAAATAGTCATTTGTATTGTCAATCTTAGGTG GGCCGAATTTTGTTTCTCCTTGTCTCTGGACTTCCTCCAGTGTAGGTCCC ATTTGCCTCTGATTGTGGGGCAATTTCATTTTAAGAATGGCCTTTCAGGC CAGGTGTGGTGGCTCATGCCTGCAATCCTAGCACTTTGGGAGGCCGAGGT GGGTGGATCACCTGAGGTCAAGCGTTCAAGACCAGTCTGGCCAACATGGC AAAAACCCATCTCTACTAAAAATACAAAAATTAGCCAGGTCTGGTGGTGC ATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGA ACCTGGGAGACGACAGTTGCAGTGAGCCAAGATTGCGCCGTTGCACCCCA GCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGAATGGCTTT TCTTCTAGATTCTAGACCATGTGTGTATGAGCCATGCAGCCCAGACTTCA TCACTGTGGAGTTTTCACTGGCTAAATAACCTCAGCCAGAGCCCAGCAGG TCCTCAGGGGCCCCTCCCTCCTGACCACAGTGTACCTGCAGTCATACAAG GCCACAACTCTGCTCTCTGCCTGATCCCCTCAGTGAGAGGGAGCATCATG AGGGTGCCTATACTGATGTCAGATGGCTCCCCAAACCCTTCAGATCCACA ACTGAAAACCTGAAGGAGACATGTAGGCTTCTGAAAATAAGCCTGGAGTC AACATGAAACTGACAGACCATGGTAACTGAGATTGATGACTCAGCTGAAA CATATAAAAAATGAAATCCCTTTTTGTTGCTAAAGGAAACCCCAGGGGCA TGAAAAGCCCTTATTTTAAACTTTATTTGTAATTTACCTATAGTTTGAGC GGTAGTTGGTCCAAAGTTCCTTGCCAATCCACTATTTGTTAAAGGGTAGA AATAAAGGAAGTATATGGCGTGATAAAACCATAAGGCAGCAACGTTAGCA GGTCCTTGGAGATTTACACAAATTGCTTTAATAAATGAATCCATTAACTA AGTGAAATCAGGCATTAAGTGTAAGGAAATTTATAAGCTCTGCTTCTTGT TACTATTTTCTTTTTAGTGGCTGTCAGAGGAGGGGATTGTCTGTGTTGTG CTGGGAAATGGAGAAGATCAAGCCCAGCGAACTCCGTGTCACCATTGTGC ACGAAGCCTAGCCCTTTGAGATTTGGGGTACGGGTGAGATTTTAGGAAAT CCAGATGATTTTTTTGATTTATCAGTGACACCCAGGTTAGAGGAACACCA AGCCTATTGGAACATCTGTGTTAAGGCTGACATACTTTGTCAGCTGTGGC CTCTGGAAGGGAACCTGAACTCTGACACATGAACAGGATGTGGATAGTAA GCAACCACTTTGGCTCTGGGAACCCGGGCGAGTCATTCACTCCTTCTGAG ATGTTTCCTCTAATAATTCTCATCCTGCCTCTCACACAGTTGTCTAAAGG ATTAAATGGGTACAATATTGATACAGCGCTTGAAAAATTGGACCTGACCT ATAGGAGATAATAGTAACTGGTTATGTTGAACTCGTTGGAGCCTGGTGTG ATCTAAGTCAGCTGTGATTAAATGCTTAATTTAAAATAATTTTTTAATTG GTTTGAAAATAGAAGTTTTTCATTCCCATATTTGGCAGAAATTAGCTAAG CTCCTCCCCCTGTGCTGTAAGCCACAAACATAGCAGAGAAGATGAAAGGC ACAAAGGTAAGCCATGGTTATGTAAGAAAAAATCCTGGTCTGCATTTCAG ACTCAGTTCTCAGCTTATCAACAGTTAATATAGTGACAGTTACTATATAG TTATTACAGTTATTTGCGAGGCCCATTATATCTAGGAGACATTTGTGCCC AGCTTGGCCCTGGAAACTAAGCTGGAAGGAAAGACTGTGATGTGTTAAGA ATCAAAGGAAGGCAAACACTGACATTTATTTTTTAGTTGTTTTGTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTCTTTAGCCCAGGCCGGA TTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCTGAGTA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18986.hp2 NA18962.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0062 a0001c0001t0004g0027 a0001c0001t0004g0062	2	340	0.0059	-3578	c.-34 others(17): Show c.-34-4903_-34-1326del	FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	1/3			chr5	TogoVar
LRRC1_chr6_53790005_53929125	53863910	CAGAAAAC others(3570): Show CAGAAAACCTTTCTCTCCACTTCTTTCATTTTGCCAACTGTGAATACTGT GTCTCCGACTAGAATTTGACAACAACTGTGCATGCTCACTCTGTCTGCCT CCTCTTTATCTACTGCCTTCTCAATCTTTGTAAAAATAGTTTGGCGTTCC CTCAAACCACTCTGCCCTTGTCCTCTCAAAGATGACCACGGATTCCTGAC AGCCAGGCCCACGTCTGTCTTACCTGTTGTGTTGCCACAATGATCCCCCC TCTGGGTGACTCTCTGCTCTTTTGACTTCTGGGACTACTCCGCAGTTCTC TTCCCCTCTGCCTCCTGGGTCTCCACAGAAGCCTGTGTCTTGTTCCCCTC CTCATAACAGCAGGTTCACTTCCCGGCAAACTTGCTTCCTCTCTCCCCAC ACTGCTCATCCACCCCCATCTCTGTGTAAAATGAGTACCAAATGGTATCT TGGAACCTCAGGCTTTGTTTCTGACTCCTCATTTTGTCTCTCCATATGCA TTCCTCCAGCATTTTTGACTCCTGCAATGTATCTGGAGCTGATCAAATCT GACTTCAGACCCTCAACCGCTACTTTGCAGTCTTCCTCGGCCACGAGGCA GATGGCTGGAATTTCAGAGCCCTGCTCTTTCACATGTCAGCAGAATGACC TTGGACAATTTATTTAATGTTTCCAAGCCTGCTTCTGCATCTGTTAATGG GACTCCTGCTATCTATCTCAATACTTGTGGCAAAGATTAGAGAGAATGCA TGCAAAGTGCCAGTCATGATACCCGGTACATAACAGGCCCTCAAAAATGG CAGCTCTTCTTGTGTGGAGTTATATAGTCAAAGAGGGCTTGGAGGGAAGT AATTCATTCCCCTTTGCACTTTTCCTGATCTGAGCCTGTCCTCTGCTGTT TCTCCCAGTGCCTAGGACTTACCACTTATGTCTAAAGTGGCAGTGACACC AGCTGTCAGGTGACTAATTTTAACAAAGCCTTCTTTGAGCAATCGATAGT TGGAAAGCAATTCCAGATTTTCATTGGAAATAGAAATATTGTGCTTAAAA AATATAAAGTGTCCATATGGCTGAAAGGAGGCGATTGCGTGTGCACTCTT GATACCATGGCAGCCAGCTGGAGCACAGGCGCCAGCTCAGCATCGGCCAG GATGAGCCATAGTGCACATTTTCTTAGCAGGAGTTGATGTAGCATTTTGA GAATTCAGTGTGCTAACAAGAATATTAATCTGCTGTAATAATTCCTCTCC TCTCATAGTAGAGGACAGTGTTGTATGGGAAGAAGATCAAGTTCTATGTA ATCTTGCTTTTGCATTATCCATAGCACTTTAATATTGGTAAATATAGAAG GTGATCAGTACAGATGTTAATAGTTTACATGAGAAGCATGAGAAGGAAAA CCTAAGTGGGCTTACCTGTAGGTCACATCTTATATATTTTCTCCTTAAAC ACTCAAAACACAAACGTAATTAGACTCAAATGGGGAAATTGTTTATCTTG AGCAAGTCCCAAGGTGACGTAAAGAATGTCTGTGCAGAAGGTTGTTAGTC TTTGATATCTACATGCAATTGCTGATTCCTGTTAGGGTTCCCTCTGCCTC TGGACCTCTTGATGGGACAGTTCGTGGAGTAGTTTTATTATTGAGGGTAC TATTTGTTTATGCCATATTATTTTTTGTTTGTCTCTGATTTGTTTTAACA TCAGCGATGTGGCAGTGAGGGTACTGTCTTCAAATTCTTGATTGCTTATG CAGTTACATGTTTTTTAAATCTAATATTAGATACTAATGACAGAGAACTT ACTTAATGACTCAGTCTTTCTTTTTTTTTTTGAGACAGAGTCTTGCTTTG CCACCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAACCTCTAC CTCCCAGGATCACGTGATTCTTTTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGA TGGGGTTTCACCATGTTGGCCAGGATGCTTTCGACCTCCTGACATTGTGA TTCACCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACT GCGCCTGGCTAAGACTCAGTTCTTTCTATATTGACAGAGGTCTTGATATT TCCTTCCTCTGGTTTGAGTGTGTCCAGGTTGAGAGGAGACCAAGAAAGCA TATGCCCCAGGCCTTACCAGTTGGTATGAAAAGTGACCCACATGTAAAAA CCATCCTGGGCCACTTGGGGAAGGTTGCCTTCCTCTCCCTTCTTATAATC CTGTACATTTGCATACTTTACCAAGTTATAAAGTACATTCTCACTTTACC TCTCAGTAGACTTGTGAGGTGGAGGAGACAGAGATTCCAGATCCCTTTCA CAAGGAAACAGAAGCCCAAAGTGGTTGAAGTTTGACTGTATTTAATGAAG ATGCTGGCTGTGGAGTCAGTCTTGATTCCAGTCCCTGTGGGGTTAGTCAG TACGTGTTGTTGAATGCCTGCCAAGGCCCCACACTGTGGCGATGGTGGGG CACAATAGAGAACGATATAGGTCTGGTTCCTGACCTAGTGGAGGATACAG CTAGTGGGAAAGTTATTGAATAGATTTTATGGATAATCACTGCTGAGAAA AACGCTTCAAACAAGGAGTATTGGGCACTGTGGAAGGCCTCATTATTTGG GGGGGATTCATGGAAGATTTAACTGAAAATGTAAGATACTATGTTGCCTT TTTATTAGTGCTACATTAAGTAAGAAATAATTATGAAACATTTTAACATT GTGTACTGAAATACTGTTTGTAATCCAAAATTGATAAAGATTATTCATAC TAAAGAATTAAATAGGGTTAGATTTTTAAAGTTTTTGTTACTTTGATTTT TTAAATTATGTATCTTGAAAATGAATCTTAGTTTGGCCAGTTTAATCTGA AGAATTAGGTAAAGAAAAAATTTAAATCTACCCTAAGTCAGATCAGATGA TGCACTTCCTCTCTGGTTCCCTTAGACTGAGCTGCTGAAGATTCAGAGAC AGCGTTATCCTTGGCTTTGGCAGGTGGCACGCGTCTCTTCACCCTAACTT GTTATTTTCAGAGGCAAGATGTCTTGGTGGTCAAGATCGTGGGTCAGGAC TGAGATGGCATAGGGCCAAATCCTGGCCTTCCCACTTACCAGCTGTGTAA ACTTGGACGAGTCCCTTACCCATTGGGTGCCTCAGTTTGCTGATTCGGAG AATGGAGATGATAGTAATAGTACCTCCTTAACGTTTTTGTGAAGGTTTAA ATGAGTTCATTTGTGCAAAGTGTTGAGAATTGTGCCTCACACTTAGTAGG CGCTCAGTAAAGTTCTGCCGCTGCAGTTTTATGATCAGGGTGGTAAAGGG CCCTCTGAGTGCAGTGAGGCTGGAACCAGGAGAAAGAAATTGGTCTATGC CTGGGCCGAATCCAGGACTGTAGTAATGTTTATATTGCTAAACTATAGAT TTCATGTTTTTATTTCTAAAGTATGACTATAAATCTCACTAATTGAAAGC AATTCTAATTCAGAAATAATGATAGCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	370	0.0027	-3577	c.278 others(19): Show c.278-15079_278-11503del	LRRC1	ENSG00000137269.15	transcript	ENST00000370888.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK10_chr4_86005405_86365053	86055221	ACTAACAT others(3570): Show ACTAACATGCTAAACATTACAGATACTTGAAATTATTCACATTGTTAATT ATTCTTTTCCTCATTCTAGGATACAGTAGTTTGTCTTACTTGTGAAAATA TTTAGGGGAACTTAGATAAAATTTTTGTTTGATATTCCTAAAATGCTAGA AATGACCTCAGAAATCTTTTTGAGAATAAGCCCTTTATAAAAACCTCCAA ATAGGTCTTTCCTGAGAAAACTCAATTGATGTGCTTTATCAAGTATAATA GTATGTTTCATTTATAAGCTTTCCAAGTTGAAATCCAAAGTAATAAGCAT GTTTCAAAAAAAATCTAAACAAGTAAAAATGGGGAAACTTACTAAAACTG TGCACACATATATAGCATCAAGAAATAAACTAGCAGTAAAATCCAAGGTC ATATTCAGTGTGATAGGCACTGCAGATCTTTTCTATTAATAAAAAGCAAC AGAGGCTTTTTCTACCCATGAAATGTTTTTTTAAAAGAGCTTTCTTATTA TTTTAGTGAAATGAAGTTTTTCCTTCTTAATAAAAATTTTCAAATTTCTA CCAAAAAAAATCCTTAAGTAACTCAAGTTTTGCAGTTTATGCTTATTTAA ATATTTGATAGGTATTTTCTGCCACTTGAGAGTTGCTATTAAATTTTATA TAATAAACTTCACTTGCAAACTGACTTCCTTCTCAGACAAATCAAATGAC AGCAAACAAAAATAATGCCTATTAACTATTTTAAGTACATTACTGTACCC TGTGGGGAAAATCAGGAAACAAAAACTGTAGTTTCAGAATTTCAGATGGA TTAGTTATTCAGAAATTGTCTTGAGGACATGCCCTAACCTTTTGATATCA CTCATCAAAGGAAAATGTGACTCACAAAGACTTTAATCCCCTTTCCTCCC AACGGGAGATACAGTCTGTATAGAGAGCTGTTTGCATTTATAACTCACTT AAATCATGTCTTCCAGATACTTCAGGTTTAACTCACAGTGCTACACTCAA ACTAACCAATTTAATAAAAGGATTATAAAATATTTGAAGCAAACTTATGC ATATTTTATTCAATGGTTTATCTCCAAACAGTAGATATCTACTGATGAAC TATTTGAACATTAGATGCATCAAATTCATATTCATTGTAGCTCATATTTT TCCTTATCATTCCTAAATTCATATATACTGAGTCTAACAAAGTACATTGC TTCTAGTTATAATCAAATATATTTATAAGTCTATTCTTCACCATGTTGTT TCAGGAATTTATTATGGATTCAAGAGAATTCAGTAAAAGACAACTGGTTA AGCCACAGTTAATAAAGGTAGAAACAATGCAAACAAGAACTCATTCATGG AGTAGATTTAATAGAGCAAGTAACACAGGATATTCATAATCAAATGATAT TAGCTTTTACAGTAAAAATGTATTTGAGAGAATTAAAAGTCAGTGATAAT AAGGAATGAGAATAACTCCTTCCCATCATCCTCAGTCATGTGAACTATGC TCAAAGGCTTCAGATGGTCAATAAATTAATACATGAATCTTTAAAATATA AATTAAATATTTTTATTTAGTTGCTATAGTAAATAGAAAGATTTAATTTA TAGTTTAAAGATTGTATACTTTTATGTTTAGTATAGCAACTTTAGGATTC TTTGGTTTTCAGTAATAATCTATGCATTTGGGTAACCAAACTTAGTCAGC TTGGTCAGGACTTTTTTGTTTATTTATTTTATTTTATTTTATTTTATTTT ATTTATTTTTTTTAAGACGGTCTCACTCTGTCTCCCAGGCTGGAGTGCAG TGGTGCGATCTCGGCTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATT CTCCTGCCTCAGCCTTCCCAGTACCTGGCACTACAGGTGGCTAATTTTTG TATTTTTAGTAGAGATGGGGTTTTGCCGTGTTGGCCAGGCCCAAACTCCT GATATCAAGTGATCCACCCGCCTTGGCATCCCAAAGTGCTGGGATTACAG GTGTGAGCCACTGTGCCCAGCAGGACATTATTTTATATTCAGTCAAATAA TAGTTTAAAAATCATAGCTAAAAGTGGATAAGCATAACTTGTTAATTATG ATTCAAAGCAGTTGATGCACATCTGGTTGAAGATTAGCAGATTCTCACTG CAGTTTAGTTATAACTGATTAACATTTCAAGGGACATAGGATTTCAGATT CTACAGTCAGGAAACCATACACCAAACAAGTTAAATAATCAAGTAAGGTA GATAATTCATATTTGGAGGAGTTTATTTTGTTTCTTCAGGAGATGATAAG TTATCAAAGATTCTCATTCAATAGAAATTGCTATTAACTATTAGAAACCT ACCAAGAACAATAAAAGCAGGGACCTGTTTTTTTTTCATTTTTTGTTTAA AAATTCAATGCTGAATCACTATCATCTAGGTCAGTGTGGAACACAAAGTG TGGGTTCAGTCAATATTTATAGAATAAGTGAATAAATACTAAACTGTTAA CAAATAGTCAAAGCTTATGTGAATAACTCTGTTGGATAAAAAAGAGAAAA GGGTAAGAAGTGAAGAAGAGATAAAAAAGGAAGAAATAAAAAAGAGGTGA GTGAGAGGAAAGTGAAAAGTTCTTTCCTAGTGAAAGAGGTCTTTCCTATG GCAGCAGAAGAGTAGATTTACAGCAACCTAAAAGAAAACAGATGGCTGAA TCCTTTCACTCCCCTTACGTACATGTGGTCCAACATTGTCTCAACAAGAC TGTAGCCCTACAACCAACAATCGAAAGAGTGACATCAACACATAAAAGGA AGGAAGTGCACATTCAGTGGAAACCCCAATGAGAAATACGCTTCTGCCAA GACTATCAGGTTGGTATAGTACTTGCGATGTCTTGGCAAGAAATCATGAA ATACTTGAAGAAATTAAATAATTATTAGGGGGATGCTTACTTCACTTTAC TAGGGGAGGTCCTTGAGTACCTCTTCTAACATCTAAAGTCTTCTCCTCTC CAGAGGAATTGTGCTCCGTTCCCTGGTTACTTCTCCTTTACTTAGGGATT TCAGAATTGTGAATAAGGAAAGAATGACCTGGTAAGTGCCAGCCCTGGAC ACATTTGCCCACAGATGCTGTCCTCCCCCTTTCTTTAGTTGCTCTTTTTC TCAGGGGGCTGGACTCTATTAGGCCATATTTCCCAGATTTGTCTGTCAGT TGCCTTAGGGTTGGTCTCAGCCAATAGGAGGGAGATATCACCAGGAGACA GAGGGGAGAATCTAGGCCATTTCTCCCCACCCTTTTCTCTAGAAGCAGCT GTATCTTACCTGTGTTAGTGACTCTAGCTCCCATTGGACAGGCCATTACT ACCTGGGCTCCAGTAAATCGCCCCCTAGCTCTCAGGTTGGTAGTGGCTTC CCATTTTTGCTTATCTCTGTGTTGGTCCAAGAGTGTCTGCTTTTGACTTC TGCATTGCAATATGAGAACATCCTTATCTCTGACACCTTTAAATACCCCT TAGGGTCTCATCTACTTAGATCTCTGATCTTAGACCACATGTCTCTCCTG ACTACCCAGCTGGTCTTGACTGCTTGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01243.hp2 others(14): Show HG00099.hp1 HG00140.hp1 HG01243.hp2 HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02717.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0032 a0001c0001t0038 a0001c0001t0065 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073	a0001c0001t0003g0005 a0001c0001t0003g0044 a0001c0001t0003g0081 others(14): Show a0001c0001t0003g0005 a0001c0001t0003g0044 a0001c0001t0003g0081 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0163 a0001c0001t0009g0164 a0001c0001t0019g0011 a0001c0001t0019g0129 a0001c0001t0019g0130 a0001c0001t0032g0133 a0001c0001t0038g0004 a0001c0001t0065g0103 a0001c0001t0070g0050 a0001c0001t0071g0028 a0001c0001t0072g0076 a0001c0001t0073g0074	17	170	0.1000	-3577	c.111 others(19): Show c.1110+5468_1110+9044del	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	11/13			chr4	TogoVar
PSG6_chr19_42897086_42922894	42919317	GTCACGAG others(3570): Show GTCACGAGGGGAAAGCGCCCAGTGTGGCATCGCGTGCACCAGCGCTGCCC TGGGAGATGCCTTTAGCTGGGCCCAGGGAAGGAGCAGGTGTGTGGGGCAG GAGCTACCTGCAGAGGGCGTGGTGTTAGGTTGGTGGCCCCCAGGTCAGGG AGGAGCTGACAGAGTCCGTGTGGGGAGCATGGAGGGCGCTGAGGACTTAG GCCGAAGTGACCCTGGTGAGGGTGGACACTGCTGGGCTGTGGGTTCCGCT GAGGGAGGTTGGCTTCCCCTGGGAAGGCTCCAGGCTGGGAGGGACTCGGT CACCCTCTGGTGGACAGGGAGGGAAGTGTGAACGGCAGCAATCCCAGGCC AGGCTGCATGTTTTATTCCACGTGGATCTGCACACTTCACACGAGGTAAC ACGTATGTTATGTTACAGCTCCTTCACCTTCCAGCCCCGTGAGACCCAGT CTTTGTGGCTGTACGTTCACTGTTCTCCCTCTTTCACAGTCAGATGTCCC AAAGGCAGATTTTTGTCACCTTTGTGAGTTTGTGTTTGTGTGCAGTAGGT GGCACTGTGTATACCCTGGGAGCAGTGATGTCTGGGGCTGAGCAGTGCAC GTGGGCTTGGGAGCAGAAGAGGGAGCAGCAGCGTGGGAAGATCAATGTCA GAGGGGCAGGGACAAGTCATTTTCATTTTCTCACTCCCAGGGACCAATCC CAGGATTCTGACTCCAGGGCACAGTACCACACCCTGCTTGTGTCCCTGGA TGTCATGATGCTCATAGTGTCATGTTGCCTTGGCATTCATTTTTTAAGGT GTAAGTTTATTTGCCTCAAATCAGAGGCAGGGCTTGGTCACCATGGCAGT TTTCAATACTGTATCTGGTTCAAGTGGCTCCAGTTGGTGGCCAGAGATAA AATCTTAGAGGTATCTCTCCTGCTTGGTGTGCTGGGCTCACCTCTCTCCA GCTGCTTTCTTTAAACTGATAATTCTGACATTTGCCCTCACATTTAAAGT GACCACCTCTCAGTCACAGCTTGAGCTCCTGGTCCCAGTGTTTGCTGCTT GCTTTGAACACATCCATTAAAGCTCCCTGCTGGAAACCTGTCAGATAACA CCCTGGACTTAATAAAGGCATTGGCTTACCGGTCTCTTCTCTCCTCCCTG CCTGGGCTCACTGACCTCTGTGTCTGTGGCCTCCAGGTGTGCTGAGTGCT CCCTAGTGTCTGTAAGTAGTAAAAATACTTATATTTTCACGTTCTTGTTA TATCATTATAGCCTCACATGCCATCCAGGGCCTGACATTGAGGCTGCCCT ATGGGACTTGTGCTGGTTGAGCTTCTGCTGGAGCTCTTGTTTTGGGGCCT CTGGTTCTCCTGGGGACAGGAGCTTCCAGCTAACTTGATTGAAAACCTGA TGCCTTTCATTGGAACACTGGGTCAGGTGATGTATTCATGGGCTTCACCT GCCATAACATAACCTTAGCCTGGGTGAATTAAATAATAGAAATCTATTTT TCACAGTTCTGTGAATAATGTGCTATTTTAACCACTTTAAAATGCACAAT CAAGTGAAATTAACCACATACACCATGTTAAATTACCATCACCACTATTT TTCCTAGAAAATTTTTATCATTTTAAACTGAAACTTTGTCACTTTTAAAC AATACCTCCCTGTATGTTCCACCCTAGACCTTGATCATCTCCACTCTCTC TCTATGAATTTGCCTATTCTTGATGTTTCATATAAATGGAATTATACAAT TATGTTATTTTGTTTCTGACATATTTCACTTAGCATAATGTTTCCCAAGT CCATGCATGTTCCAGTGGGTGTCAGAGCTTCATTCCTCTTTATGGCAGGT TAACAATCTGTTGTATGTGTCACCATATTTGTTTATTCATGTGTTGATGA ACACTTGGATTATTTTCATATTTTATCTTTTGTGAATAATGCTGCAATGA ACATTCCCATGCAAGTACCTGTTTGAGGCCCTGGATTTAATTCTTTGGGT ATGTACCTAGGAATGCCTGTTGTTTCAAATGAGAATTCTATGATTAGCTT TTTGAGGAACAGCAAAACTCTTTCTCCAAGTGGCTGTACCTTTTCATATT CTCACCAGCCATGTATGAGGATTCCAAATTCTACATAATGCTGCTACTTG TTGTTTAACATTTTAAAAGAATGGTAGCCAGTTTTGTAGGTGTGATGTGG TGTCTCATTGCAGCTTTGACTTTGTATTTTCCTAATGACTATAGATGTTG AGTATCTTTTCATGTCCTTCTTGACTATTTGTATATCTTCTTTGAAGAAA TGTCTATATGAGTCTTTTGCCCATTTATAAATTGGATGGTTTGTCCTTTT GTTATTGAGTTTTAGCTAGTTCTTTATATTAACTGGATATGAAAACTGCC TATATGTGGTTTGCAAATATTTTCTTTCATTCTTTTCTATTAATTATTTT CTTGATAATTTCCTTTGATGTACAAAAGGCTCACATCTTGATAAAGCCCA ACATATCTTGTTTTTCTTGTTTCTCATGCTTTTGTATCATATCTAAGAAT CCATTACACATTTGAGTTCATCAATATTTACCTCTATGTCTAGTTTAAGA TGTTTTTATGGTTATAGGTCTTATATTTTACTCACTCATCAATTTTTTAG AGAATTGTTTGATATGGTGGGAGGCAGAGTTATCTAAATTCACTGTTTTG CATGTGGTTATCTAGTTGTTTCTGTACTATGATTTGAAAGGAGAATTGTT CATCCATTAAATTGTCTTGACACCCTCTTCAAGGAGTAATTGACCATAAG TTTGAGGGTTTATTTCTAGATTCTTAATTCTATCCCATTTGTCTTTATGT CTATTCTTTTGCCAGCAGCTTATGTCTATTCTTTGGCAGCAGCTTCCATT TTAATAATTGTACTCTTTTGTGAGATTTCAAATAAGAAAGTTCAAGTCCT ACAATTTATTTTGGCAAGATTGTTTTAGCTACTCAGGGGTACTTTTTTGA AAGGTGGGGAGGCCAATGTTTCACAATTGGGAAAGCCTTTTCTCTCTTCT TCAGGGGGAAATTTGGGAGAAGCTTTTAAGAAACTTTATCTAAGTAGGTA AACTGTCACCACTTTATTTGCTGAAGTGCTATGTTAAAGTGTGCATTGCC TCTTGTGGAAGAATTATGAGACCCTGGAAGCACTTGCCCATGTGGTGAGA GACAGTGAATTCCACGATGAGGGGCAGAGAGGACATTGTTTTGGGATACA GTGTTGTTGGGGGAGTTGTATACATCTCAACTTCTTTATGTCTCTGTACA GTGGGTGTAGGGAGCAGCCCCACAGGGTCGTTGGGTTTTTCTCCCTGTGT GTGGAGATGAGAGATTGTGGAAATAAAGACACAAGACTAAGAGATAAAAG AAAAGACAACTGGGCCTGGGGGACCACTACCACCAAGATGCGGAGACCGG TAGTGGCCCTGAATGCCAGGCTGCACTGATATTTATTGGATAGAAGACAA AGGGGCAGGATAAGGAATGTGTGCCATCTTCAATGATAGGAAATGCCACC TGTGTCACATGTCCACTGGACAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0003 a0006c0020t0003	a0006c0020t0003g0079 a0006c0020t0003g0079	1	414	0.0024	-3577	c.-51 others(11): Show c.-5102_-1526del	PSG6	ENSG00000170848.16	transcript	ENST00000187910.7	protein_coding		1424		chr19	TogoVar
CSTPP1_chr11_46931761_47167247	46987838	ATATAAGG others(3568): Show ATATAAGGAGCTCAAATATCTCTATAGGAAAACATCCAATAATCCCATCA AAAAATGGACAAAAGATGTGCATAGACACTTCTCAAAACAAGACATACAA ATGGCAAACAGGCATAAGCAAAGGTGCTCAACATCATTGATCATCAGAGA AATGCAAATCAAAACTACAATGAGATAACATCTCACCCCAGTTACAATGG CTTGTATCCTAAAGACAGGCAATAACAAATGCTGGCGAGGATGTGGAGAA AGGGAACCCTTCTACACTGTTGATGGGGATGTAAATTAGTATAACCACTG TGGAGAACAGTTTGGAGGTTCCTCAAAAAACTAGGAATAGGGCTGCCATA TGATCCAGCAATTCAACTGCTGGGTATATACCCAAAAGAAAGGAAATTAG TGTATCGAATAAATATCAGTACTCCTATGTTTGTTACAGCACTGTTTAGA GTACTAAGATTTGGAAGCAATCTAAGTGTCCATCAACAGATGAATGGGTA AAGAAAATGTGGTACATATACACAATGGAGTATTATTTGGCCCTAAGAAA GAATGAGATCCTGTCATTTGCAACAACATGAATGGAACTGAAGATCATTA TGTTAAGTGAAATAAGCCAGGCACAGAAAGACAAACATTGGATGTTCTCA CTTGTTTGTGGGATGTAAAAATCAAAACAATTAAACTCATGGACAAAGAG AATAGAAGGATGGTTACCAGAGATTGGGAAGGGTAGCAGGGGGCTGGGGG AAGAGGTGGGGATGGTTGATGGTTACAAAAAAGAAAAAAAAGAATGAAAA AGACCTGCTATTTGATAGCACAACAGGGTGACTCTAGTCAATGATAACTT AATTGTTCATTTTAAAATAACTCAAAGGGTACATTTAGATTGTTTGTAAC ACAAAGGAAAAATGCTTGATGGGGTGGATACCCTATTCTCCATGATATGA TTAGTTAACATTGCATGTCTGTATCAAAACATATTATGTGCCCTAAAAAT ATATACACCTACTATGTACCCATGAAAATTAGAACTTAAAAAAATTTTTT AAAGGAATATTTCTAGAGGGAGGATATCTTTCATAGATTATATATTTGAA AGGTCATACCTAGGCCAGGCATGGTGGCTCAAACCCGTAATCCCAGCACT TTGGGAGGCTGAGGTGGGCAGATCATGAGGTCAGGAGTTGGAGACCAGCC TGACCAACATGTTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCA GGCATGGTGGCACGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAG GAGAATCGCTTGAACCCAGTAGGCAGAGGTGGCAGTGAGCCAAGATGGTG CCACTGCACTCCAGCCTGGCCAACAGAGAGAGACTCCGTCTCAAAAAAAA AAACAGGTCATACTTCTTTATAAAGTATACTTAGAATGTGTAAAAGTCAA AATGATTACTACCTTTTTTATTTTTCTGAGATAGAATTTTACTCTGTTGT TAAGGCTGGAGTACAGTGGCATCATCATGGCTCATTGTAGCCTTGAACTC CTGGGTTCAAGGAATCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTAC AGGTATGTACTATCATGCTCAGCTAAATTTAAAATTTATCTTTTGTAGAG ACAGGGTTTCAGTATGTTGACCAGGCTGGTTTTGAACTGCAGGCCTCAAG TAATCCTCTCACCTTGGCCTCTCAAAGTGTTGGGATTGTAGGCATGAGCC ACCATGCCCAACTGATTACCACTTTTTGAATATCACAGAACTGTTTTTAG GCTGAATGAGATAAACACTTTAAAAACACATTAATATTCTTTTTCTTCCA ACTTTTATTTTAGATACAGGGAATACATGTGCAGGTTTGTTACATGGGTA CATTGCACCCAGGTAGTGAGCATAGTACCCAATAGGTAGTTTTTGACCCA TTACCCCTCTCCCTTCTCCCCTCTAGCAGTCCACAGTGTCTGTTGCTCCC ATGTTCATGTCCATGAATGCTCAATGTTTAGCTCCCACTTATAAGTGAGA ACATGTGGTATTTGGTTTTCTGTACCTACATTAATTCACTTAGGATTATG GCCTCTAGCTCCATCCATGTTGCTACAAAGGACATGATTTCATTCTTTTT TATGGCTGCATAGTACTCCATGGTATATATGTACCATATTTTCTTTATCC AGTTCACCTTGATGGGCACCTAGGTTGACTCCATGTCTTTGCTATTGTGA ATAGTGCAGCAATGAATGTACGAGTGCATGGGGAGAATGATGTATTTTCC TTTGGCATACCCACTAATGAATGGGACTGCTGAGTCAAATTGTAGCTCTG TTTTAAGTTCTTTGAGAAATCTCCAAACTCATTTCCACAGTAGCTGAATT AATTTACATTCCCACCAACAGTGTATAAGCATCCTCTTTTCTCAGCAGCC TTGCCAGCATCTGTGTTTTTTCTTTTTTGACTTTTTAATAATAGTCATTC TGACTGGCATGAGATGGTATCTCACTGTGGTTTTGATTTGCATTTCTCTG ATGATGAGTGATAATGAGCATTTTTTCATATGTTTCTTGGCCACTTATAT ATCTTCTTTTGAGAAAATGTCTGTTCATGTCCTTTGACCATTTTTAAATG GGGTTATTTCGTTTTTGCTTCTTAAGTTCCTTATAGATTCTGGATATTAG ACCTTTGTTGGATGCATAGTTTGTGAATATTTTTTCCCATTCTGTAGGTT GTCTATTGATAGTTTCTTTTGCTGTGCAGAAGCTTTTTAGTTTAATTAGG TCCCACTTGTCAGTTTTTGTTTTTGTTGCAATTGCTTTTGGGGACTTGGC CAAGAATTATTTGCCAAGGCTGATGTTGAGAAGGATATTTCCTAGGTTTT CTTCTAGGATTTTTATAGTTTGAGATCTTACATTTAAATCTTTAATCTAT CTTGAATTAATTTTTGTATATAGTGAAAGGTAAGGGTCCAGTTTCATTCT TCTGCATATGGCTAGCCAGTTATCCCAGCACCATTTATTAAACAGGGAGT CCTTTCCCCAGTGCTTGTTTTTGTCAGCCTTGTCAAAGATAAGATTGTTT TAAGTGTGTGCTTTATTTTTGAGTTTTCTGTACTTTCCATTGGTCTATGT TTCTGTTTTTGTACCGGTACCATGCAAAACGCAATCTTCATGAAAGGATG TGCTAGAGAAATACATATGCCATCACATATTTATATAATCGTTTGGATTC TCTTTCCTTTTCTTCTGGTTTTTGGGAACATTCTAAGAAAGGAAGAGTAA TCCTTATAGGCTTCCATTTAAGTGAATCTTGAACTCAAGTTCATCTTTCT TGAACATAGTTTTTTTTTTTTTTTTTCCTTTCTGTTCTCCAGAGGCTCCT TGGAGATCAGACAGCTATTCAAATGGCCTCACCTTGGGTTTCTGTTAGGG GAATACTTGAGATTCCCTAGCTCTTTTGCTGAACTCTAAAGTTCTTTTCA ATGAAATCTAGATTTTTTATGGATTGGCATTTAGGTTCGTTGGAAAAAGA AGCTTTCTGGGAGTAAAGTTGTTCCT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	224	0.0045	-3575	c.149 others(16): Show c.149+530_149+4104del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
STAT4_chr2_191024576_191155994	191130357	GGACTACA others(3565): Show GGACTACAGGCACCTGCCACCACGCCAGCTAATTTTTTGTATTTTTTAGT AGAGACAGGGTTTCACCATGTAAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACGGCGCTTGGCCTATCTCGCTTTTTTAAATAGATAATATATTTGTTA TCCTCTGTTACTTTTAGAATATTTTCTTTCTAGTGTCCTGCAGTTCATTT GCTTTTTAAATTTATCATGCTGGGGACCCGTATTTCTAAAATCTAAGAAT GCATGGAAGCCATCATGTGAGCTCCTACTTAAATTTTGTTTTACAGGTTT TTCTTAATTTTTGTTTCCGTGATTTCTTTTAATTTGTGGTGAGCTTATCT GTGCATTTAAAAGCCTGTTATAATTTATATCGCATTTCTATGTGTTTATA GTGGAATGGTTTTTTAATTTATCTAGCCAGAAATAGAATTCAAAACTGGA ATAATGGATTACTTAGATATGAACAATGAGAGCACTACATATGAAAGCAT ACAAAATCACCTCTCAAAAATATCAAAAATTAAATGCATTTATTAAAAAA GGATGAAAATTAAGTATCTGAGTAAAGTTAGAAAAAATTAGAAAAATAAT AAAAAGTAAAATGAGGAAATAAGGCAGATATACCACCAGATTGTATGATC CATGACCATAACAAGTGTAGATGAGAATATTGAGCCAGAACTCCAGCCCT ATAAGGAAAGTGTAAATTGGTATAACCATTTTTAAAAAACAATTTGGCAT TATGTAATATAATTAAAGATGTACATAGTGCATGATTCAGCAATTCCACT CCTAGGCATATATTCTAGAGAATTTCTTACATATGTGCCCCAAGGGACAC ACCATAAGAATGTTCACAGTAACGTTGTTTGCAATAGCAAAGAAATACAG GAAATAACGCAAATGCCCATCAACAGTAGAATGAATAAATTGTGATAATT CACACAATGGTATACTATGCAGCAATGAAAATGAATAAACTACTGCTACG CACATCTGTATGGATGAATGTCAGGAACCACGCTGAGTGAAGAAAGCAAG TTGCTGAAGTATAAATATAGTGTGATCTCACTCGTGGATTTAGCAGCTTT CAAACCTAGACACTTTATTGTTTAGGGATGCAAATGTATGTGGTAAAATG GCAACAAAAAGAAAAAAAATGACAAATGCAAATTTTGGGTCAGTGGTTGC TCCAGGCGGAAAGAGAGCAGAGTGGTGTCAGGGAGGAGGCACAAGAGGCT TCAAAGGTAATGGTAACATCTGGGTATAAAATGTCAACAACAGTTTGCAA AAGCCAGAATTCTCCGATGTTTTGTATTAGAAGGAATAGATGGGTACTAA ATTCCTGTATCTTGGTTTCCTCAATTAGTATCATCTGAATGTCCCAGGTG AAGAAGCTAAGTCCTAGGGACAAGATTTGGACCTTTGAATGCAGGTTTCT CCATGTCGATCCAAGGGCAGCTGTGCTGTAGCCAACCCTGGGGACTAAAG CAAATTAGAGGTCTGTTTATTCTCTACACTTGTGGAGGTGTGTGTTATCT AGATTTACAACTATTCCTGAAGAGAAGACAGCATGAAACACGCCATTCAT TCCACACTAAATTACAATTGGAACATAACTGAAGAGAAACGTTTCTTAAG AAACGAGGGACTTTCATTCTTCACATTAAATCCTTCTGTTCTCTTTGACT TTTCACTATAAGCAGAGCTTATATTCAGTGGGTATGCATCAGTAGGGCTA GTAAGTTGTTCGATCCTAATCTTTTCTGATTAGTTATTGCTCATACTGTC TTGGTTGTAAAATAGCTTCAACATCACTCCTAACTGCAAACAAAAACTGC AGGTTGGCCTAATACTTCTCCCGTATTGATAGAGCAATGTCTACAAATAG TTGAGAGAAAGAAAAAGTAAACCAAGAACTTTATAGCAAGTCAGGGTGTC CTTTACAGTACCAGATATTCTTAAGCATGAACGTCCTCAAAGATTACAGC ATCATTGAGAGCTTCTTGAAAAACTACTTGATGAAATCTAGGCAATTCAG AATGAAGCAAAATTTGAAACCTCAGGAATGGAGAAGTAATGGTGAAAGAA GTGGTGATGAGCACTGAATCTACCTATACACAAAATTAAAGAAATGTGTG GAATTGCCATGATACAACAAGGATAATGTAACTAACAAAATATAAATGAT GAAAATTGGCAGGTGGGGATGGGAACGAGAAGTGGAAGCAAATTTAAGAA CGTTAATTTCTCCTCATATTTAATAGCATGGAGTGAACAGACAACTGCCT AGAAGTGAAATATGTGGTTTCTGTATCTCATCATCTCTTAATGGTTTTCT TTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CAATTCTCCTTCCTCAGCCTCCCAAGTAGCTGAGACTGCAGGCGCCCGCC ACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATATCCTGACCTCGTGATCTGCCCACCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACTGCGCCTGGCGGTT TTCATAGTTTTAAAAATTAACTTGAGTGGAATTTCTTTTGGGAAAAAATA TTTCTTATGGTAAGGAAACATTTAATATTTTAAAATAATATTTAATTGAA TTCAAATAAAAATAAAATTTTATTTTAAAATATATATTAATAATATGGTT TCATTTTTTGATCCGATATTCCTATGTAGGTATTCATTTATTCATAAGTC ACTTATTGAGCACCTAGTATGTGTCTAGGCACACTGTCCAGGCACTGGGG ATATAGAAGTAAACCAAACAAAATCCCTCCCTTTATGAAGATGGTCTTCT AATGGCAAGAAAAAGGCAAGTAAATATAGAGGAGGTCAGAGGTTTATAAA AGCTATGGAGGAAAATAATGTAAGGTAAGAGATATGGAGTGTTCCTGGTG TGTGTGTGGGTGGGTGGGGGCAGGGGATGGGAGCAGCAGTAGTAATTCCA CCTTCCATCTGCATATATACATGTATAAGGGGATGTCTGGAATGACACCT ATCAAATATTAATATGTTTATTTCCAGGCCATAGATTTTTTATTTTTTCA TACTTTCTTCTTTGCACTTTTTGTGTTGCTTTAATTTTAAAAAATTATGA ATATGCACTATTTTTATTTTTCTTAAGTCATTCTATCTGAGGGAGAAAGA CAAAAAGGAAGGTGAATAAGGAAAAGGGTTTTGCAACAGTAAGTCCAATA ATAATGATTCAGAAATCATGCTTCTAGATATTTATCCAAATGAGTTGAAA ACTTACTCCTACACAAAATCGCATATGAATGCTAGTAGCAGCTTTATTCA TAATAGCCAAAAATGAATAAACAAACTAGGGTACATCTGTACAAAAGAAT ATTATTCAGCAGCAAAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01981.hp2 HG02258.hp2 others(4): Show HG01192.hp1 HG01981.hp2 HG02258.hp2 HG02559.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0243 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247	7	290	0.0241	-3572	c.273 others(19): Show c.273+12684_273+16255del	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
OR7G2_chr19_9095407_9112475	9105819	CCTGGGTG others(3564): Show CCTGGGTGACAGAGTGACACTCTGTCTTAAAAAAAAAAAAAGTTTAGCTT GTTTTTTAACAACTGATGTATGATTCACAAAAAAAAGAGAGAAGGGAAGA GAAAGAGAGAGAAAAAGAAAAGGAGAAAGAAAGGAAGAAAGGAAGAAAAT TTTTGTATGATAAACAGTGTACAGTGTGAGAAAAATTCTAAACGTTTTTG AACCTGCACAGATATATTCATTTTTATTATAGATTATTCATGTGTGAATT ATTCAGAAAGTACGGAGAATAATGAAGGGCTGGCTACCCATCAGTCAACG ATATAAGATTCACACAAGGCCAGGCGTGGTGGCTCAAGCCTATAATCCCA GCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGATCAAGAGTTTGAG ATCAGCCTGGCCAATATGGCGAAACCCCGTCTTTACTACAAATACAAAAA AATTAGCTGGGTGTGGTGGTGTGGTGCACGCCTGTAACCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATCGCTTGCACCTGAGAGGCAGAGGTTGCAGT AAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTG TGTCTCAAAAAAAAAAAAAAAAATTCACACAATTCACCATCCTTGATTAG ATATTTTTATTGCAAAAAGTAAAAAATATTTTTATTGCAATAAAGTGTGT ATTTGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGA GGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCAAGACCAGCTGACC AATATGGTGAAACTCCGTCTCTACAGGAGAATCGCTTGAACCTGGGAGGC GGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGAC AGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGTGCATATTTCAAA ACCACCGCTTCATGTTTTTGATTTTTTTTCCCTTCCCTAGGGGAACCAGT ACACACACTTGATCTATATTATTCTTCTATACCTTTCATTATATTTGATA TTATTCTTCCAAATAATAACAATGGCATTGTGTTGCATTTTAAAAGCTTT ATATAGCCAGGCACTGTGGCTCACATCTATAATCCGGGTCCTTTGGGAGG CTGAGGCGGGAGTACAAGAGGCCAGGAGTGTAAGACCAGCCTGGGCAACG TAGTGAGAACCTGTGTCTACAAAAAAAATTTAAAAATTTGCAAAGTGTAA TGGCATGCACCTGTAGTCCCAGTTACTCAGTAGGCTGAGGCTGAAGGATT GGTTGATCCAGGAATTCAAGACTGCAGTGAGCTATGATCGAGTCACCACA CTCCTTCCAGGCAACAGAGTGAGACCTTGTCTCTAAAAAAACCCCAAAAA ACAAAACCACCTGCCCTCATTTCCAAAGCATTAATTAACTAAAGGACTTT GGGTTAACTGATTGGCTTCAACAAAAATGATGCTCAACAACTCACATGGA TATTGCAGAGGATGATCTATCCTCAGGAAGTGCAGACAGACTCGAGTCCT GGTCAAAAATATCATGTCTGGAAGGAGGTTCTGATGCAGCTTCCGAGCTG GGTAAGAGATGTTCAGTGAGGTGCTTACAGCCTGACTTGTTGCACTGTCT ATATCCCTGGGACCTCAATATCCAACGCTCCTCATTACACTGGCTATTTT ACCATCGTTCTGATCCCAGGAGTGCACATCCTTAAAGACCAAGACTAGAG GAGTGAGGAATTCGGGATGGCTGAGTCCCTGTCCCCTGAGGCCACGTGTA CACCATCCATATCTCTCCATTGTTTCTGCTCACCTCCACTTCACGAATCT TGCTCCCAGAACACATACCATTCGTCTAGTAAAAAAAAGGATTTTGATCT GAAGAATGTGAGTTCTCTTCATTGTCAGACCCGGAAAGACATTAAAATGA GACAGAAACCACACCCCTCCTCCCCTCCTTTGAACTATGCATTCATCTCA TAAAACTGCTTGCTGTTGCCACAAGTAGCTATAAATTAACCTAATAATAG CATATGAATTAAAAAGAAATTATTTAGGCAGTTAGTGAGGGTACAGAAGT CCTGGGTAAGGTTTTTCTTTTTAATAAAAAGCAGCCCCCAAATCATTTCT TTTCAGGCAAAAAGTAGCCTGAAAAATCAAGCTGCAAGCATAGGTAAGCA AGCTGAAAGCCTGCGTAGGTGAATGCCAGCAGCTGTGCCAGAAGACAGGT ATAACCAACATGAAGGTTTTCTTTTTTCTTCTTTCTTTCTTTCTTATTCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCACCC AGGCCGGAATGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCTG GGTTCAAGTGATTCTTGTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGG CGAGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGAT TTGATGCTGGGCGTGGTGGCTTATGCATGTAATCCCAGCACTTTGGGAGG CTGAGGTGGGTGGATAACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ATATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGTG GTGACAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGTCCCTA CACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAACAA AAACAAAAACAAAAAACCCTTAACCTGTAAGCCATCTGCAAGTTTGGGTC TTACATGTAAACTAGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGTTCAAGACCACA ATGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCC AGCCGAGGTGGCGCACACCTGTAATCCCAGCTATTCAGGAGGCTGAGACA GGAGAATCGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCTCAGATTGT GCCACTACACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTTAAAAAAA AAAAATGTGTAAGCTGCCCCAATTTTCCTTGCTTCGTTACCTGTCTTTTA AGGTTCTTCAATCTCTGACCACACAGGTAGTATCTGGCAAGCAACAGTAT TCAACCTGAGATTTCAAGATGTTATGTCCATTATGCCAGTAATAATAATC TGTGTTCCCCCAGTTGATCTGTCAATCTAAAATAATCAAAAGGGTCAGAA TCTAGTTTGTTTTATTATTTTTAGAGACAGGATCTGGCTCTGTTGCCCCG GCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAACTTCTTGA GCCCAAGCGATCCTCCCACTTCAGCCTCCCATGTAGCTGGGACTACAGAT GTGCACCAACACGTCTGAGTAATTTTTTATTTTTTTTTTCAGAGAGATGG GGGTCTCTCTATGTTGCCCAAG	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0051	1	442	0.0023	-3571	c.-20 others(14): Show c.-2093_-17+1494del	OR7G2	ENSG00000170923.4	transcript	ENST00000641081.1	protein_coding	1/2			chr19	TogoVar
PPP3CA_chr4_101018418_101352526	101160048	GGTGACAA others(3551): Show GGTGACAACTACCTTGGGAAAGTAGAGAAGAAAAATGTGAAATAGAAAGT AAAATATAAAAGTATGGTTGGTGCACGCCTGCTACATTCCACACTTCTAT CTTGAACTGCATGTGCCATACAATTTAGAAGTGTGCTAAGTACAAACCTT TACAGTGACTGCAATGATGAAGTCGCTAACAAAATTCTCAAGTACGTACA TTTACTTCCCCATGGAAAATCCATTGACAACGACCACTGATATAAGTCAT TCTAGTCCTTACCAACACAGTTTGGCTCACTTTAGGGAAATAACTTATCC TTTTTGCCCCCATTTTTTCATCTGAAGAAGCAGGAAAATGACCAACGTGA TTTCTTTAGTTTCCTCAAACTTTAATATTCATCAACTTGGTCAAAAACAA TAATTTCAAATTTATGCATTAATAAAATGTGTGGGAGTCCGATCATGGTA AATGCACAGAGTGTGCTCTATGGGATAGCTATGTGAATACTCGAGAAGCA AAACAAGTCTTGCAAAATTATTAATAATCCTTTCTTTCATTTCTATGAAG TCAAGGTGTTACTGGAGTTGCTTAGAATAAGCATATCCACCCTCTCAAGT AGCAAACACCCTTACACTACTCTAAAAGATAGTGATTTTCATGAATCAAT AGCTATTTCTTCTTTTTATATATCAAGAGTATAACTATTCTTTAAAAATA TTTTTTTAATCAGACAAATGAAGATGTTCTTTAGAATATGTATGTGAGTG AAGGTATCCAAATTGGTAATAAGGGGCTAGGTTTTAGGAATGTAGAGAAA ATGGACTTGGGATATTAGATCTGCTAATATCAAGACAAAATCTGAATCCT TGTTGAAGTTCAAAATAATGACTCAGATTTCAAGGGTTTCTTTTTCTTCC TTCTACAAAGAAATACAGTCACGTACTGCATAACAAGGTTTTGGCCAAGG ACATGCTGCCTACATGATGGTAGGCCCATAAGATTATAACATCATATTTT TACTGTGTCTTTTCTATGTTTAGATATGTTATATACACAAATACTTACCT TTGTGTTACAATTACCTACAATATTCAGTACAGTAACGTGGTACAGGTTT GTAGCCGAGAAGCAATAGGCTACATCACATTCTCTAGGTTTATATAAATA GACCCTGTATCAGCTATATCATCTAGGTTTGTGTAAATACACCCTATGAT GTTCCCACAACAAAATCGGCAAATGACGCATTTCTCAGGATGTTTCCCTG TTGTTAAGCAAAGTGTGACTATAACATTTTTATTGAGTATTTGAACAAGC CTCTCCCTATCACAATGAATTCAATCACTCATGAATTATTTCATAAGGTG CTGTAATATGGTATAATACATTATACATTTTTCTCAGGCTATAATTTTGG TATTTAATGAAACTAAGCAGACTGCCTTAGTGTTGTTATGGGAACATTTA TCAGATGGGAGGAAGTTGGCAGTAAGCTGTCTGCTGCCAAATGGGAAAGG ATTCATTAGCTCTAGAAGACTGGCAGTCCTAAGAATCATTTAAATACAGA CATAAAAAAATGCTCGGTTGGCAATTAGGATTTTACACAATTCTAAAATC TCTTTTTAACACATACAGGTGAGAGCTTTACAATACTTGGTAAACAATTC TGAACAAATTCAAGTAAAGTTGCAAATTTCAGAAGAATACAGGAAAAAGA ACAGATGGAGTTGATGTGTAAGAGAAAAGTCATTTGTTTCCAAAAGAACA GGGAAGGCCAGTGTCTACACTAGCATACCATAATAGGAGTTGCCTAAAAG CAGGCAAAGTGATCATTTTGTCACAGGCAGACATTTGACTTGGCTATATA TACATTCTATAGAAAAATTTTACCTTGATAGTCCACATCGAGGTTAAAAA AAGTGAAATAGGCCGGGCGCGGTGACTCACACCTGTAATCCCAGAACTCT GTGAGGCCGAGGCTGGCGGATCACCTGAGGTCAGGAGTTCGAAACCGGCC TGGCCAACATGGCGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCATGTGCCTGTAATCCCAGATACTGGGGAGGCTGAGGGAG GAGAACCACTTGAACCTAGGAGGGGGAGGTTGTGGTGAGCCAAGATGGCG CCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGGCCAAAACAAAA AAAGGCCAGGAATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC TGAGGCGGGTGGATCACGAGGTCAGGAGCTCAAGACCAGCCTGGCCAAGA TGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTG GCGGGTGCTGGTAATCCCAGCTATTCAGGAGGCTGAGGCAGAGAATTGCT TGAACCTGGGAAGCAGATGTTGCAGTGAGCCGTGATCACGCCACTGCACT TCAGCCTGGGCGACAGAGCAAGACTCCATCAAAATAAATAAATAAATAAA TAAATAAATAAATAAATAAATAAAGGGAAATGTATCAGGTATAGAACTGA TTTCTGCATCTTTGACACTTTGTGGAATATAAACGTGACCCCCTGTGCAA CATTTGACAATGAATTTCTTAGTTGATCCACTCAAAGAAATGGAGTCCCC AAACACATATGCATGCACGCTAATTACATACAGTTTAAAGTATCTTGCCC TGGGTTTAAAAGTTTTCACCAGCAAATTTGACTCATCCTTTCCCTATGAG AATTTTGATTTAATTTCACTTCTTCATTTAGAAAATGGCCATGCCTTTGA GAAACCTTAATTGTCAGTCAGCATTTATTACCACACTCTTCTATACTCTC TCTGAGCTATAGGAGCTGGAAGCTGAAGCACTATGTTTCCCAGACTCCCT TGCCATTAGGGTTCTGGATAAGGCTTAGGTTCAGCCAAGGAGATGTACTC ACATCATGTGATTAGCTGAAAGCAAAGGAAGGTAAAAGTCATCCATCCCC AGCACTTGACATGGCTACTGACTACAGGTTTTGGTAAAAACTTTTTAATA ACTGGCAATTCCATATTCCAATTCTAGTCACCAGTTTAGGGGCTATGGAG TAGTTACAGCTTTGGCAGGCATTTCCTGCATTTGTGCATGGCAGTTTCCT GGACTCCAGTTCACAGTTTGCAGTAGAGGGAACAACAGCAACAAGAAACC TGAACTGATATATTCCTCTGCTTTTTCTAAAAATTTTGAAGATACTTAAT TCATTGTTTTAAAACTCTTTTCAGTGTGAAATATCTGGGGCTTTTGTTGT TGTTCGCCCTGAGGTCCCTTCTCTCAAGAAAAACTAATGATCTGAATCTA TCAATTCAGGATATGCATTGGCCCACAAGTCAAAGTTGTGGTATTTTTAA AGAGATCACAAAAGCATGTAGCATAGACAGTGTGGTCTCTGTAATTGCTT GATGTAGGCTTTAATGAGGACAAGAGAATATTCTCTCATCCTTTCTTATT CCCACCCTTTCTTCCAGGCTTAAATAACCATCTGGACAAGGTGTGTTCAT CCTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	192	0.0052	-3558	c.259 others(19): Show c.259+32310_259+35867del	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
SERF1B_chr5_70020251_70048113	70042283	GTTTCACC others(3551): Show GTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCGTGATTCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACAGCCC CCGGCCATAATTTAGCACTTTAAAAAATAATAGCCATGTTGGGCCAGGCG TGGTGGCTCATGCCTGTAATCTGAGCACTTTGGGAGACCAAGGCGGGTAG ATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACC CCATTTCTACTAAAAATACAAAAATTAGCTGGGGCGAGGGGATAGGCCGA GTTCCGGGTGTAAGGGGGCCATTAGGGAGAGCAGAGCGAGGCAGCTGATC TTCCGGATTGGGGGCCTTGCCCGGAAGCTGGACCTCACGGAGATGAAACG GAAGATGCACGAGGATATGATCTCCATACAGAACTTTCTCATCTACGTGG CCCTGCTGCGAGTCACTCCATTTATCTTAAAGAAATTGGACAGCATATGA AGATTGGACATCACATGTGAATGCATGATATGAAGAGCCTGGTTACAGTT TCTACTGTTCTCTGCAAGTAAATAGGCCCAGAAAGGTATAAGAGACTCTT TGAATGGACATAAAAATTCTGCTTGTTAAGAACAAGTTGAGCTCTGGTAA CTGATCTTAATAGCTAAAATATAAAAATATTTGGGAAGTCTGAAATGAGG TCTCCTGGCCCTGGTGTGCCCTTAATGCCTGTGACAGTTGGCCTCTGTGA ATATTGGTATAATTGTAAATAATGTCAAACTCCATTTTCTAGCAAGTATT AATAATTAAGGGAAGTATGTCTGAAATGGCACTGTCTTGTCAGTCATTTC TGTTTACCCTTCTGTCTGGAGTGTATTTGTGAAGAGTCCCTTATAACTTA TGTTTTATGGACATCAGCACATAACCACAATGACATTGAAGCACAGGATC ATTAGTCTATATTTTATTTTATTATTTTATTTATTTATTTATTTATTTTT GAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCT CGGCTCACTGCAAGCTCTGCTTCCCAGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAAT TTTTTGTACTTTTAGTAGAGATGGGGTTTCACTGTTTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTG GGATTATAGGTGTAAGTCACCATGCCCAGCCCATTAGTCTATATTTTTAA GTAAACATACCAATTAAGAAAGAAGCCAAAAACCAAAATTAGCCAGGTGT GGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGTGAGGA TCACTTGAACTCAGGAGGCAGAGGTTGCAGTGACCCAAGATGGTGCCGCT GCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTTCCACAAAAAGAAAA AAAAAATAGCCGTGCCTGTACTTCAGTACTTACAAATTTAACTTTAGTAT AGATGTACAGTAATTTATTCAATCATTTCCTTACTCATAGACAATTAGGA TGTTGCAACTTTTGCCACTACAAACAATTCTGCGATGTGGATTATCGTAC TTATTCCCATTTATTGGTGCTTTCATTTCTATAAGAATGGATTTTTAAAG ATAGAATTCCTTGGGAATAGTTATGTCAAAGCCAAATATAATATAGAGAC AAATCTCTAAAAACATTTTATTTGGTAAGCAAGAGCTGCAATTCATGGCA TACACACAGACCGGGCTGATCATTGGTATGATCAGGAGAATAAAGGGAAG GTTGCGGCCAGGTGTGATAGCTCATGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACC AACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGTTGGGCATA GTGGCGCATGCCTGAATCCCAGCTACTCAGGAGGCTGACACAGGAGAAAT GCTTGAACCCGGGAGGTGAAGGTTGCAGTGAGCCGAGATCGCGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAATTCCATCTCAAAAAAAAAAAAGA GAAGGTTCCGGGTTTTATGAGAAAGAACAGTATTACATACTGTTTTGGAA GAAAGCTCATTCACACTAGAGCTTGTGGGAGCTAGCAAGCTCTGATTGGT GAGCGATGGTGGTAGGTAAAACCAGTCTTAGAGTCATGGCAGTTCATTTT AGCAGCTATTAGGTAAAACTGGTCTTAGGGATACAGAAGGCTGGTTCAGC AGTTGGACTTGTGGAAAATTTAATTCTTGAAGCAGATGCTGTGTGCCCCG AATGCTTCTTCCCCCTGGCCCTTCAACTCTGATTTAGTTGAGTATTTCAA GAATGACCCAATTTATGTAATCAACTTTCACAGGTATACATGTCTTAAAC TTTAAACAGATGTTTTGGGTTTTGTTGTTGTTGTTTTTGAGACGGAGTCT CACTCTGTTGTCCAAGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCA ACCTCCGCCTCCAGGGTCAAGTGATTCTCCAGCCTCAGCCTCCTGAATAG CTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTA GTAGAGATGGGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTC CTGACATCAAGTGTTCTGCTCACCTCAGCCTCTGAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGGCAGTCTTTCCTTCTTTTTTTTTTTTTTT TTTTTTTTTTTAATGACATGGGGTCTTACTTTATTACTCAGGCTGGTCTC AAACTTCTGGCCTCAAGGAATCTTCCCACCTTGGCCTCCCAAATTGCTGG GATTACAGGCATAAGTCATCATGCCTGGCTACAAACAGATATTTTCAATA AGAGGATAAAAGTTCATTTCCCCATACTTTGCTAACATCAAATGTTATTA ATTCCTAATAGTTTTGCCAAACTGAGAGGAAAATGGTATGTTAGTTTTTC TGGGTTTTCTTTCTTTTTAATTTTTTTTCTTTTTTATTCATCGCAACACT ATTCACGATTTTTTTATTTTTTATTTTATTTATTTATTTATTTTTTTTTG AGACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGTACCCCTGGGCTCA AAGGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAG TCACCACGCCTGGTTCACAATTTCTTTTTGTTTTTACCAAAGGCAGGTAT ATTCCTGAAATTTTTTGTTTTTTTGTTTTTTTTTTGAGATGAAGTCTCAC CCTGTCACTCAGACTGGAGTGCACTGGCACGATCTCAGCTCACTGCAACC TCCGCTTCCTAGGTTCAAGCGATTCTCCTGCCTCAGTCTTCAAAGTAGCT AGGATTATAGGCGCCGCAACCATGCTCAGCTAATTTTTGTATTTTTAGTA GAGACAGGA	G G	splice_region_variant splice_region_variant	LOW	HG01167.hp1 HG02145.hp2 HG02258.hp1 others(10): Show HG01167.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0030 a0001c0001t0004g0083 a0001c0001t0004g0133 others(10): Show a0001c0001t0004g0030 a0001c0001t0004g0083 a0001c0001t0004g0133 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0188 a0001c0001t0006g0182 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187	13	218	0.0596	-3558	c.54 others(10): Show c.544_*4101del	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	3/3			chr5	TogoVar
ZNF500_chr16_4743239_4772162	4756271	ATCAGGAG others(3546): Show ATCAGGAGTTCAAGACCAGCCTGACCAACATGGTAAAATGCTGTCTCTAC TAAAAATACAAAAATTAGCCAGGTGTGGTGATGCACACCTGTAATCCCAG CTGCTTGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGATGGAGG TTGCAGTGAGCCGAGATCATGCCACTGCAATCCAACCTGGGTGACAGAGT GAAACTCCATCTCAATTAAGAAAAAAAAATGTTTTTGAGCCCGGGTAACA CAGTGAGACTCCATCTCTATCAAAAAATTTTTGTCGCCCAGGCTGGTGTG TAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCG ATTCTCCTGCCTCAGCCTCTGAGTAGCTGGGACTATAGGTGCATGCCACC ACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATG CCGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGC CTCCCAAAGTGCTGGGATTACAGACGTGAGACACCGTGCCCGGCCCAAAA ATTTTTTCAAAATTAGCTGGGCATGGTGGCATTGACCTGTGGTACCAGCT ACTCGGGAGGCTGAGGTGGTAGAATCACCTGAGCCTGGGGAGGTTGAAGC TGCAGTGAGTCAAAATTGTGCTACTGCACTCCAACCTGGGTGACAGAGTG AGATCCTGTCTCAAAAAAAGAAAAAAAAAGTTTTGGAACTATGTGTTACT GCACCCAACCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGGGAAGAA AAAAGTTTTGGAACTAGATGAAGGTGATGATTGTACAACACTGTGAAGAT ACGAAACGCCACTGAACCGTTTACTGAAATATGGCTAATTTTATGTTATG TGAATTTCTTTTTCTTTGAGCAGCAGCAAGATTTATTACGAAGAGTGAAA GAACAAGTTTCCACAGTGTGGAAGGGGACCCGAACGGGTTGCCCGTGAAT TTCATCTCATTAAAAAATGTAAAAACTTTGAGGCCAGGTACCAACCTAAT TTGTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGT GGTATGATCACAGCTTACTGCAGCCTTGACCCCCCAAGCTCAAGTGTTCC TCCCACCTCAGCCTCTCAAGCAGCTGGGACTACAGGCATGCACCACTTTT GTATTTTTTTGTAGAGACAAGGCTTCTCCATATTGCTCAGGCTGGTCTTG AACTCCTGGACTCGAGCAATCCACCCGCCTTGACCTCTCAAGGTGCTGGG ATTACAGGCATGAGCCACCATGCCCGGCCCGTTTTTGTTTTTGTTTTTTG GAAACGGAGTCTTGCTCTGTTGCCCAGACTGGAGTGCAGTGGTGTGATCT CGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCA GCCTCCCGAGTACCTGGGACTACAGATGAGTACCACCACACCCAGCTAAT TTTTGTATTTTTTAGGAGAGACAGGGTTTCATCATGTTGGCCAGGATGGA CTCGATCTCCTGACCTCATGATCCACCCGCCTCAGCCTCTGGAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCAGCCAATTTTTTTTTTTTTTTTGA CACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTT GGCTTACTGCAATCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGATTATAGGCACCCGCCATCACGCCTAATTTTTG TATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAA CTCCTGACCTCAGGTGATAAACACTCGCCTCGGCTTCCCAAAGTGCTGGG ATCACAGGTGTGAGTCACCGTGCCTGGCCATTTTTTTTTTTAAGCAAGAT CAAATAGATCCAATTTTCCTCGGCCCCACAGACCTTTTTTACCATAGGCT CTGGCGCCGGGTAAGTAAAACCCAAACACATGCCTGTGACCCTGAGAGGG AAGCTGTGTCTGGGCTCCAGGAGCTGGTGGACAGAGCTGGGCAGAATCTC ATTCCTTCCCTTCTGAGGATTCCACGTAACCACTTGGGAGCCGGGAGGGC TGGCAAATTCTTTCCCTTTTGACTTCTGCCTTTTGCACAGGGAATGAACT GGACCACAGGTAATGTGCGCTCAGAGATCTTCAGATCAGGGTTCCTCAAT CACGGTGCAGGTGGTGTCCATGGGACCTGGCCCGGGCTGTCTCTGATGCG GCCGCCCTGTGCACCGCAGGAGGTTGGGCAGCATCCCCACCTTCTGCTCA ACAAATAATCACTTTCATCAGTGACAACCCCAGGGTCGTGACAACCAAAA ATGTCTCCAACTCATGGACAGATGTCCTCTGGGGGACAAGATTGCCCCAG GTGGAGAACCCCTGCTCTGGATGCCTGTCACTAAAGCTACTGATGACCAA CCAGAGCCCCATACAACATCATCTAAAACTCTTCATAGGCAACAAAAGAA AAAAACGATCAACTGGACACTAGAACCAAAAACTTTTGTGCATGAAAGGA CGCTACCAACAAAATGAAAATGCAACACACAAAATAGGAGAAAATATTTC CAAATCAGGCCAGGTGCGGTAGCTCACGCCTGTAATCCCAGCACTTAGGG AGGCTGAGGCAGGCAGATCACTTGAGATCAGGAATTCGAGACCAGCTTGG CCAACATGGCAAAACCCAGCTCTACTAAAAATAGAAAAATTAGCCGGGTA TGGTGGCACACACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAG AATCGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCTGAGCTGAGATCG TGCCACTCCACTCCAGCCTGGGCAACAGAGCAAGACTTCATCTCAAAAAA AAAAAAAAACCCTGAAAATAACAACCATTGGTATGGATGTGGAGAAACTG GAACCCTTGTGCACTCTTGCTGGGTGCATGAGATGGTGCAGATGCTGTGG AAAACAGCATGGCGGCTCCTCAAAAAATTCAACACAGAATGACCACATAT GCTCCAGCCATCCCACTGCTGGATACATCCACCCAGGAACGGAAAGCAGA GTTGATCAGAGATACACTTGTACACCCACGTTCACTGCAGCATTATTTAC AATGGAATATTCTTCAGCCTTAAAAAGGAAAAAAATTCTGGAGGTTTCCC AAAGAAGGAAGTCTGCCTCAAGACCGTGGCACAGAAATCCTAAGCTTCCA GTCTGCTGGCCTGGCCTGCAGATTTCAGACTTGTCAACTTCTGTAAGCAA CCAAGGGAGCTGTCTAAGTACCCATTCCTTAAAATAAATCTGTGTGTGTG TGTATCTTCTGTTGGTTCTGTTTCTCTGGAGAAGAACCCTAATACAAAGC GATATCTCACTGTCATTAGAAAAGGCTTCAGCATGGCCACGCACGGTGGC TCACACCTGTCATCCCAGCACTTTGGGAGGCCTAGGCCAGCGGATCACCT GAAG	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	412	0.0024	-3553	c.760 others(16): Show c.760+668_761-3214del	ZNF500	ENSG00000103199.14	transcript	ENST00000219478.11	protein_coding	5/5			chr16	TogoVar
EDAR_chr2_108889471_108994220	108944513	CTGTTAAT others(3545): Show CTGTTAATCTGGCTGTGGGTGAAGCAGGCTCTCCTGGATTGATAATGGGC TCCTTCACAAGCAGACCTGGCCCACATTCCTGCCCTCAGCAGACCTTACG AAGCCCTGCTGGGCTAAGTGCCAGGGTGGGGGATAGGGTGGGCAAAGGCA GCAAAACAAGGAGAGGCCCTGGGTCCTGGTGTCTGGGCCTGGGAGGGAGG GGCTGCAGCACCCCCACCGTGCAGAGGAGGGAGCTGTGGCACAGAGCCGG TCCCAGACCTTCCTGAGGTCACAGAGTCAAGGGAGAAGGCTGAGCCAGAG AGCTGACCGCAGAGGCCAAGCTTCTAATCCCAGGCCAGGAGCTATGGTCG CCGCCACCTGCAGGTCCCAGAGGAACTGACGCCGGGGAGGTGCTTTGAGC CCTTTGACATGAGCAGAAGGCCTAGGGTGTCCCTGCTTGGATGTTTCCCG TGGTGCAAAGGGCAAGGTTTCAGTGATCACCGTATTATACCAGCCTGGTG ATTTGAAAAAGTTGCCCCCTGCTGTCTGGCTTGCATTGTACAGTCTGGTG CTTTCTGCCCTTGAATGCGCAAAGGAGTTGTGACTATGTATGTGGGCGCT GCCTGTCCGTGAGGCAGCTCAGGAAGCTCGATCCTGTGTGGGGAGCAACA GCTATAGGGCACTCAGCCAAGCCCAGCTTGGGTGGGGGCGAGCTCCCCGT CCTGGGGCACTGTATATTCCAGGGGCCAATGGGATGCTATGCCACTGAGT CCAAGCATGTAATCTTTAAAGACATCTTTTATTAGGTGTTTCATTACACA TTTCACTACTCCAGCAGTTCCAAGGCCATTTATTTATTTATCCCCATGCC AAGAGCCCCCAAGCAACGCCAAGGCATTTGGAACTAGAGTATGCTGGTAC TAAAATAAAATTAAAACCTGTTTTAAAGCCTTGAGACTTACTAATTTATT AAATTACTAAAAGGGGCAATGTCTCTGGGTCTTAAGAGGAGCCAGCAGAG GGCTGAACAGGATGGATAAGCTGGGCTTGTTGGCACTGTCTGCATTTTAA ATGCCAGCCACAAAGAACACCAGGAAAAAGGACTGGAAATGAAAGGAAAA TAAAAATGCAGCTAACTTTCTAAAAATTTGAGATCTATTTATTTCTAAAT GCCATGGATCCCAAATGGATAAACAAAGTATGGCATATGCACACAATGGA ATATTACTCAGCCTTAAAAAGGAAAGACTTTCTGACACATGCTACAGTAT GCATGAACCTTGAGGACATTTTGCTAAGTAAGATAAGCCAGTCATGAAAG GACAAATATCATGTGATCCCACTTGTATGAGGTCCCCAGAGTAGTCAGAT TCACAGAGACGGAAAGTAGAATGTGGGTTGCCAGGGGCACATGTTACTTT GTCATGAAGATGCCTATTCTATCCTATGCTTCCATTTGACCCTTCCTCAA AATAAAAGACAGTTCAAGCAAACTAATGACTTGATTGCATTTTCTGACTC CATTCTCTGCACTAGTACTGGCAGCACTAGTCCTCAGACATGAAGGAATC TGACATTAGGGAGGGCTGCCAAGTTTCTGGTGACTCCAAGGACACACCAG CCCCTCCTCCTGGCAGTCGTCCACACCCTGTGAGATGTGCTCGGAGTGTG TCCCAGCAGCTGTGAGGAGCTGTCAGGTACAAAATGCACCAGGGCATGAC TGGGTATACTCAGCCTCCCCCGACTTTATCACAGGCTCTTCAGATACACC CCAAACTCATGTCAGTACCTACGGGTGACAGTGACGGGAGTAGCACCTGG GACAACACATATCTGAGTGTGTTCAGCATTGCCCTGTGCCTGCACACCAT GGGGCTTGGTAAAGACTTGCAGAGCTGAATTATGCACAAAGACAACCCCT TGGGGACTGGTGTCAGGAATATTGGCAGCACCAAACAATTCTTAAAAAGT TGGCTCTCTGGCCAAACACATATTTTACATACTAAAAAGTGGAATTATAT TAGTCCATTCTCCCATTCTCACACTGCTATAAAGACTGGGTAACTTATAA AGAAAGAAGGTTTAATTGACTCACAGTTCCACATGGCTGGCAGGCCTCAG GAAACTTACAGTCATAGCAGAAGGCAAAGGGGAGGCAAAACACATCTTAC ACAGTGGCAAGAGAAAGACAGTGAAGAGGGAAGTGCCAGATACATATCAA ACAACCAGATCTCATGAGAACTCACTCACTATCATGAGAACATCATGGGG GAAAGCGCCCCATGATCCAATCACCTCCCACCATGTTTCTCCCTTGACAC ATGGGAATTACAATTTGAGATGAGATTTGGGTGGGGACACAGAGCCAAAC CTTATTCCGCCCCTGGTCCCTCCCAAATCTCATCTTTTTTTTCACATTTC AAAACCAATCATGCCTTCCCAACAGTCTCCCAAAGTCTTACTGACTCCAG CATTAACCCAAAAGTCCAAAGTCTCATCTGAGACAAGGCAAATCCCTTCT GCCTATAAGCCTGTAAAATCAAAAGCAAGTTAGTTACTTCCAAGATACAA TGGAGATACAGCCATTGAGTTTCCATTCCAAATGGGAAAAATTGGCCAAA ACAAAGGGGCCATAGGCCCCATGCAAAAGTCTGAAACCTGGCCGGGCAGT CATTAAATCTTAAAGCTCCAAAATCTTCCTTGACTCCATGTCTCACATCC AGGGCATGCTGATGCAAGGGGTGGGCTCCCATGGCTTTGGACAGCTCTGC CTCTGTGGCTCTGCAGGGTACAGCTCCTGTAACTGCTTTCATGGGCTGGT GTTGAGTGCCTGTGGATTTTCCAAGTGCATGGTGCAAGCTGTCGGTGGAT CTACCATTCTCGGGTCTGGAAAATGGTGGTGCTCGTCTCACAGCTCCACT AGGCAGTGCCCCAGTGGGGACTCTGTGTGGGGGCTCCAACTGCATTGCCT TGGTAGAGGTTCTCCATGAGGGCTTCACCCCTGCAGTAGACTTCTGCCTG GACATCCAGGCATTTTCATACATACTCTGAAATCTAGGTGGAGACTCCCA AAGCTCAATTCTTGTCTTCTGCACCCCCGCAGTCCCAACACCAAGTGGAA GTTGCCAAGGCTTGGGACTTGCACCCTCTGAAGCAATGGCCTGAGCTGTA CCTTGGCCCCTTTTAGCTGCAGCTGGAGCTGGAGTGGCTGGGATGCAGGA TGCCAAGTCCTGGGGCTGCACAGGGCCCATGAAACCATTTTTCCCTCCCA GGCCTCCGGGTCTGTGGTGGGAGAGGCTGGTGTGAAGATCACTGACATGC CCTGGAGACATTTCCTCCACTGTCTTGACTATTAACATTCAACTCCTTGT TACTTATGCAAATTTCTGCAGCCAGTTTGAATTCCTCCCCAGAAAATGGG TTTTTCTTTTCTACCATATAGTTAGGTTGCAAATTTTCCAAACCTTTATG CTCTGCTTCCTTTTTAAACATAAGTTCCAATTTCAAACCATCTTTCTGTG AATGCACATGACTGAATGCTTTCAGAAAAAGCCAGGTCACATCTTGAATG CTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	226	0.0044	-3552	c.-18 others(19): Show c.-18-17033_-18-13482del	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158302722	TGCAGTGA others(3544): Show TGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTGACAGGGTGA GACTCCATAAAAAAAAAAAAAAAAATTATGAGATGGCTCTGGGGAGGATG TTCCTAGGCATGCCGTTGAAAGACAAGGATGCTGCGGAATTGAGTGCACA GCTAACAGACTGGTTCAGGCAGTAGTCGGGGAAAACTTGGGGGATCAAAG AGCAGGTTTCATGGGAGCAGGAGATTGAGAGCTCTGCTTCCTCCCTTTAC TCTCATCCTCTGGTGAGAGGCCTAAATGCCTCTGCTTGCTACAGCAACTG TTATGACAGAAACCAAAATAAAACAAAACAGAGACAGAGAAAGAGAGCAC GAGAGCATTATTTCAAAATTCCTTTAACACATCTTAAAAGACACAAATCA TCTAAATTACCCCCCAAAAGCCCTTTTAAATTCCAAGGCTGAGAACAAAA TTATGGTTAAATGTTTAATTAATGTTTATTATAGCTGGCATATTAGTTTT AGAAAGGTCAAATTTATGATACAATGAAGTAATATTTTTCACACTCTGTG GGCCTACTTTATAGCACACTGGAGCCTACAGTATAATAAATATCTTCTAT TATTTTGTAGAACTCTTGTATGCAAACCTTTGTGGGGCCAAGATAATATT GAATTACAAGTTGAATGAGCTGGTGTGAACCTTAGGCAAGTCACTTCATC TTTCAGGGCTCAGCTTTCAGGCTTATAAAATGAAAGGCAGGGATAAATTG CCAAGTTTCCTTCCAGGTTAAAAAAAATTATAAGCATATTTTAACATTTT AAGTGACTGAAGAATTTATAGATTTACTTATTTTCTTTTATGATATCATT CTGATCCCAGCTATAATTTACTGAGCTCAGTCCCTCATCAGGAATACAAA TTCCAATGATAACACCCTCTCTAGAAAAAACAGAATCCATTTTACTATAG TGTACTTTATGTTCTGATTTCCCCCACTGTCTGCCTGCATTTACACTTCT CAGGTTTCATCCCTGAAAGTTCAGATATTTGTTTACCCTCATGTGACCAT ACCCTTCTGAGGAGGCTACATTTTATGTTGTCTCTTAGAGCTGTGGCCTT GATTCAGTGGCTAGATGCTCTGCAGCAACCTCTGCACATCTCAGCTTAGA TTTGTCATTGAAGAGAATATCAGGAAATGCACAGAAAGCATCTATTAGGA TGCCTGGTGGATAGGAGACACTCAGTAAAGTATGCTTAGTATACGGTACA GCATGATGTGTGAGACATCAACAAAATGTGGCATTGTTTTTGTCCTCCAT TCAGATGTTCTCCAACCACCAATTGAAAACTCAGCAGAATGCATGGCTCA CTCTTGGGTTAGAGAGGTCCGTGGTAACTTTAAGTCACAAAACACAGTCT TGGTTCAAAATCAGTGCCTGGTTCCAAGAGATTAGTTACCACTTCCCTCT TCATGCAGAAGATGGCTTCTTCTTTCATTCCCCAGATGCTTAAACCTTCA GGGCCCAGAGGTGGGAGAAAGAAAAGAAGAGGAGGGCTAAAGAAAAGGAA AGCAAGTTCTCAGATGATGGGTGACTGACACTGTCCTAAGTAAGCTAGGC AGGAGGTTGATACTGACCCTTGATCTCCAAGCAGTACTGTTGCCTTGATT GCTAGCTGGGCTTTCCAGGAAAGATGCTCCTGATGTGGGTCATGCTCATT TACCTTTGACTAGCCATTTCTTTTCTATCTGTCAGGTTCCCATTTATTGT TGTTCCATCCCACTGTTTTTGGGGTCCCCTTACCTCTGGCAGGAACCCTG TTAGGCAGAAAAATCTTGGGCAGAATATCTTTGACAATGGCCCTTTACCA TTAGCCAGTGGTTTCTTAAATAGGGCACAAAAAAGATTGATGAATTATAT TTCATTAGGACCTATGAGCTTCCATTTAGGTGTAGAAAGTTAGATAGAAT ATTGTTCTCACCGTAACCAGAAGAAAAAGCTGAATCACTTACATCAGGAC TTTTCCTGAACTCATCAGAGAGCAGAGGTCACAAGGCAATAAATTAGCCT GAAATTTAAGGAAAGACAGATGCCTCCAAGGAGAGCCAGGATGTGACAAC TGGCTTACCTGCAGCAGAGCACCTGGGGAGATGAGGCCACTATGGAAGTG GGTAAGAAGACTGCAGCTAAAATGTTGTAATAAATTGATAAATTTTAATG ATTTACAAGTTTTAATGACTTCGCAGAGCATGAGACTATAGAACCTGTGG AAGCTACAAACACAAGAGGAATTTGCACCCACTCTCAGGCTTTTCTCCAT AGATCTCACAGAGTGCTCACAAAAAAAATATCAGAGTCAGGGTAGGAGAG CAGAGAACGCATCCTATGACAGTGCAGATCTGCCAGAGAGGATCCAAAGC CCTATAGAATGAACACCCATCACTGCTGAAGGAAAAGCCACAAACCCACT AGGGTACAAGTGTGGACCCATCACAACTGGGAGAAGGAAATGAAGAAACC ATCTTCTCCTGGGGACGGTGAAGGAAACTATCTCCCTCACAAGAACATCA AATTCATGAGGCAGAATTTGTCTGCCATGGGGAAAAGAGCAGGATTGTTG AGTAAGCCCTTAGCCCCAAGACCCAGGGACACAGGCCCTGCCTGAGACTG AGGTTGAACCAGTATTGCAGAATGCCCCTTCCGCTACCAGGCTAGCAAGT GTCTAGTAACAATCTAGTGCAGGGGAAGGAACAAGAGTGTGGCAAGCCAG GCACAGTGGCTCACCTGCAATCTCCGTGCTTTGGGAAGCCAACGCAGGAA GATTGCTTGAGGCCAGAAGCTCAAGACCAGCCTGGGCAACATAGCAAGAC CCTGTCTCTACAAAATATTGAAAAACTGAAAAATTAGCCAGGCATAGTGG TGCATGCCTGTGGTCTCAGCTATTTGGAAGATGGAGGCAGGAAGATCACT TGAGCCTGGGACATCTGGGCTGCAATGAGCTATGATTGCATCACCACATT CCAGCCTGGGCAACAGAATGAAACCCTGTCTCTTAAAAAAAAAAAAAAAA AAAAAAAAGGAGGGACACCCTCTGAGGCACAGGCTCACCAGGAAGCCTAA AGTCTACTCCCACTATAAGCAAGGCAACATTAATCACCAATAACTTGAAA CAACTGATGAATGGAAAAACTGTAACGTAGCCATGTCATGGAATACTACT CAGCAATAAAAAAGAACAAACTATTGATACAAACAACATGGGTGAATCTA AAATGCATTATGCTAAGTGAACAAAGCCAGACTCAAAGGCTACACACTGT TGAGTTACACTTACATGACCTTCTAGAAGAGGCAAAACTATAGGGATAGA GAACAGATCAGTGATTGCCAAAGGCTGGAGGTAGATGAAGGGTTGACTAC AAAGGGGAGTGAAGAATTTTTGAGTGGTGGTGGAACTGTTCTATATCTTG ATTATAGTGGTAGTTATACACCATGCATTTTCAAAATTCATAGAACTATG CATTAAAAATAGTGATTTTGGCCAGGTGCGGTGGCTCATGCCTATAATCC CA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	264	0.0038	-3551	c.111 others(19): Show c.1110+3160_1110+6710del	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar
DHRSX_chrX_2214506_2505976	2277277	AGGGAGAG others(3540): Show AGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAAAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGGGAGGAAATAGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGG GGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAG AGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	50	0.0200	-3547	c.388 others(19): Show c.388+10678_389-10331del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
CPZ_chr4_8587765_8624752	8621207	AGTTTACA others(3538): Show AGTTTACATTTATTTGGCTCCACTGCATACAGGGCACCGTGCAGGGGTCC TCTGAAATCCCGGGAGGCCCGTGGAGCAGACCTCTGCTTCGTGCTTTGCT GAAGTGGGTGTGGAAACAGCAGGCGCAAGGTGCCCAGGACTCGGGGTGTG CAGGTGGCCGCTCAGTCTCAGTCCCCCCGTGGGGCACCTGCACGAGGCCT TCCCTGCACTTCATTCTGTCCCCACCCGTTCACGCTGTCTAGGGAAGAGC CTGCTGCAGTGGGTGTGTGGGGTGGAAGGACTCATTCCAGAGCCCAGTTC GTGTCAGGGGCCAAGGGCCAGGCCCCCGGCATAGAAACTGGGCCGAGGAG TGGGTCAGGGAGCCTTGGGGAAGGCTGTGCAGGGGGGCCGTGGCAAGAGT GGGGGCCGGGGAGGTGGAGACGAGGAGATAGCATTCTCTTCACACACCAC CCCGGATCCAGCCAGCGGGGGGCCCTTCTGCACTTCCATGTCCTTTTTTG TTGGTTTGTTTTGAGACCGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACCTGCCACCA CACCCGGCTACTTTTTGTATTTTTTTTTTTTTTTTTTTAGTAGAGATGGA ATTTCAACATATTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGACC CACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACCAC GCCCGGCCCCTTGTCATTTTGCTAGAACCTGCACAGTCCTTAGTGACGTC CTTGCCTCTGGCAGGATCCCCTGGCTGGGCCCTGCTGCCCCCCTCACTTT CCTCAGTCCCTGCTTTCCAGTGTGAAAGCTGTCAGAATCAAAATGGAGAC ACTTGTCTTAAACAAAACAAAACAAAACCCCAACCAATAGAGCTGGGAAC AGCCCTGACGGTATTCCCCATAAAACCATCACAGAAGACAGCAAACACCA CAATCGTGAGCAAAGTCCATCACAACCTCACACAAAAAACACTTCTGTGA GGACACCTGCCCAACCTCAGACTGTTACCACCCGTGTTCTCGATTCCTGT GGCAAGGATAAATATCCCAAAACAATTCTGTGATTCTCTTCACTTTGCCA TTAAAGCCTCTGTGCTTTTACCTCCCTGAAAACGCACAGCGGACTCCAGC ATACGTATTTGCACGCAATGCCCGACTCCTGAACGAACCTCGTTTTCATT TGGAGAGCCTCTCTGGCGGTGGTTCGGGTGGACGCTAGTGTGGACATGGC ATTGGGAAAACGCTGCCTGTGCACCAGGGCTGCCTGTTGCTCCAGGGGTG CTCACTGCTTCCAGGCCCGTCCGTGGACAGAGCTAGATATCCAATTGTTT TTAAAGGGAAAACACAAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCA GCATTTTGGGAGGCCGAGGCCGGTGGATCACCTGAGGTCAGGAGTTCAAG ACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAA AAAAAAAAAAAAAAAAAAAATAGCTGGGCAAGGTGGCAGGCTACTCTGGT GGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAG CTGAGATCACACCATTGGACTACAGCCTGGGTGACAGACCAAGACTCTAT CTCAAAAACAAAAACAAAAATAAAAAACACAGAGGGTTCCTGTTGCTACT TCCAATTCCAAACCAGAATGACCTTCTCCTGTGCAGAGAATCCCAGATTT CAGGGCAAAGGAGGGGAAGGACAAAGTAGAAAGTCACACAACTGTGCCTG CTTGATCCAAAGCACACACGACAGTCTCACAGCCCAGTGCTAGTCCGCTA CCCACAGTGCAATCACTGCAAACAGCTCCAGTTGTTTCCTCAAGTTCCTT TGGTTCTGGGATATAACCCACTAGGGCTATATGTAAGCTCCGAGGATTGG CTTTTAATATTCCTGGCAGCTGAGAAGAACAAGGTGCCGTGAAGAGCCAC AGCCCCTCCAGAAACTGCACCTGGGCAGCGGGCCGTGTGGCCACAGCTGA GACCCTGAGGAGTGGGTCCCCAGGGGACTGGTCTCGGGGAGAGGGGCTGC CTCTTAAAACACGACGATGGACAGACAGATGGATACGTTCAACAGCAGCA TGAACAAGTTCTACAACTAGAAATCATTATTTGTAAAGGAAAAACCCATT TACGAGTTGAATCAGAGGAGAGGCTCGTGTCTCTGAGTTCTGAATTCATG TGGGGAGGAACAAATAGAGGAATTACCTGAAACGTAAAGCAAAAATACTG CCTCGAGGAAGTTATGAGGGAAAAGAGATTTTGAGAACAGATCCAGTAGC CCCATATGCAAATAATAGGGAAATAAAATATAATAGAAGAAAGGCCGGGC GCGATGGCTCACGCCTGTAATCCCTACATTTTGGGAGGCTGAGGTGGGCA GATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGAGAAAC CCCATCTCTACTAAAAAATATAAAATACAAAAAATTAGCCGGGCATGGTG GCAGGCACCTGTAATCCCACCTACACTCGGGAGGCTGAGGCAGGAGAATC ACTTGAAACCATGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGC ACTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCCAAAATAAATAAATA AATAAATAAAAGAAGACGGACTGATGTTTACAAAGCATTCAGAGGAAAGG GCTCTGCCCTGACACTCTATACCCCAGCATGGATAATAATAATAATCAGT GATATAATAATAGCCGATGCCCATGGACAGTTTTCCCTATCCAGGCACAG CTTCAGTGTTGTCTGAGCTTGTTTAATTTGTTTCCTCTCCTTAAGGAGAA ACATATTAGAATTATCTCCATCTCACAAGCACAGACAGGTCAAGTGACTT ATGCACCATCACACAACCAGGGTTAGAAACCAGAAAACCGGGCCAGGTGC GGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCTGA TCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCG TCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACAGTGTGAACCC AGGAGGCAGAGCTTGCAGTGAGGCGAGATGGCGCCACTGCCCTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAGAAAAAAAAAAAAAAAAAAAAAA AAAGGAAACCAGAAAACCTGGCTTTGGGATGGGTCTGTGTTCTCAGCCAC TCTCTCACTGCCTCTGCAGATAGAATGCATGGGTCACAGAGAAAGAAAGA CATGTCCAGGTTGGCAAGGATGAAGGGAAGATGACCTCCGGACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02622.hp2 others(1): Show HG01891.hp2 HG02615.hp1 HG02622.hp2 HG03579.hp1	a0004 a0004	a0004c0002 a0004c0017 a0004c0002 a0004c0017	a0004c0002t0002 a0004c0017t0002 a0004c0002t0002 a0004c0017t0002	a0004c0002t0002g0177 a0004c0002t0002g0179 a0004c0002t0002g0191 others(1): Show a0004c0002t0002g0177 a0004c0002t0002g0179 a0004c0002t0002g0191 a0004c0017t0002g0190	4	442	0.0091	-3545	c.15 others(11): Show c.1591_*5135del	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		1456		chr4	TogoVar
CYB5A_chr18_74245846_74296963	74264889	TCTCAGAG others(3537): Show TCTCAGAGTAATAAAAAAGAAAGCGGAGCTTGGGCAAAGCATCCTAAATA CGTACTTTTGTAGGAAAAAAAAAAACTTCTTTAACTGAGCTTGAATGTTA TTTTAGATTCATCCTGACCTTGAGCAAGTCACCTGCAAGTGTCCAACAAC TGCACAAAAACCGGTCTCCCTTGCAGAGTCGACTGTGGTCAGTCCTTAAT TTCTCCCAGTAATGAAGACATCAGGGCACATCACATTGTAGGAAGGTGGA TCATTATTCTGATTTGAAACTGTTTCTCTTCCTACTTGGTCTAAACATAC CTAGTGCTAAGGACATCCACTCTTTTTTTTTCTTTTTATAACATTTATCC ATCTATGCTGCAGAAAAACTGGGAAGCACAAAGAAAAAAATTAAAATCAC CCATCATCTTGCCTCCAGAGAGCCAGACATACACACACACGTATGTGTAT GTAATGTTGGATAGAAACTGTGATGGTTATCCTATGCATTGTTTTAGAAA ATAAAAAGGAGGTGATACATGGTACAGAGGCAGAGGTGCCTAGTGGTTAC CACTCACTCTGTGAACTTGGGAAAACACGCATGTAGTTTTTGAGGATGAA ATCTATGAACATATGTGTCTGGCACATCGTTTATGCTCAGTAACTATTAC CCAGCATTTTTATTAAACACTTTCCAGTGTCTCTATGTTAGTCTGTTTTG TACTGCTATGAAGAAATACCTGAGACTGGATCATTTACAAAGAAAACAGG GGTTACTTTGGCTCTCAGTTCTGCAGCCTGTACAAGCACGGCACCATCAT CTGCTCGGCCTCTGGTGAGGCCTCGGGAAGCTTTTACGCACAGTGGAAGG CCCGGGGGAGCCCACACATCTCATGGCGAGAGAGGAGGTGGTCCCAGGCT CTTTAAACAACCAACTCTGCCTGAACTAACAAAGTGAGAAGTCACTCACT ACTGTGAGGACGACACAAAGCCATTCATAAGGGATCTGCCCCCATGACCT AAACATTCCTGCTAGGCCCACCTCCAACCCTGGAGGCCACATTTCAACAT GAGGTTTGGAGGGAACAGGTGCAAACCATGTCAGTCACTAAGTATTCTTC CTCAACGGGACTTTGACATGGCTACATGCTGTTACATTGTATAGGCATTC CCCAATTTACTGAAATGTCTTCTACTGGGGCCATTTAGATTATTAAAAGT CCACCTTAAACAGGCATGGGAATGCACGTTAGATGTGCAGACAACAGAAT GGCTACCTCAAAGCCAACCCGAAACTTCTGGATTCCTCGCCAAGGCTGCA GCAATAAAAACATGGTTTTGTTGATTCCAGAAAAGTCTGCTTAAGGTTGG ACACTTCCACTCACCTACTGAGTAGAGAGAAGCCACATGGTGAGATATAA AATGACTCAGCCAGGACCCACAACTATGTAAACTCACAGACTGCTGTTAC TCGCGTAGGGACCGCTGAACTCAGGAGCTGCCGTAACTTTTGATTCCTGT TAAGGATATGTCAGTGGAGACAAATCGCCCAGAGTCAATCATTATTTGCC AGGGACAGCCGATGTTCAAAGGACGACTTCGAGTGAGGTTAAAAACATGG ACTTGGCCCTTTATAAAGAATTGCAGACTTAGACAAGTTTTTAGATACAG AATTCTGATCTTTACAGTGCTAAAATGGAGAAAATACACATTCAATTTCA TGGGGTAATTCCACAGTCTTAATCTGAAACAGAAGTACAACAGGGCAACT CCTCACCTTAATTTTTGACCAAGAACAGCAACAAGGGATAGGTATGTATG AATCTACCTATCGACCTCTGGTTTTTACCTTGCCTAAACCATTTGTGGGG CAATTTTCTAACAAAAAAAAAAAAGAGAGAGAGAGAAACATCTTGGATTA TATTGGTTTCACTGATAACTCATGTAAAATTTTAAAGATTTAAAAAACTA AAAAAAAAAAAAACATAGCTTAGAATAAACTAACTGATACTAAAATATTT TCACTCCATCCTAAAGGTCTATCTTAATAATTGGTAGGAAAATCAAATCC TAAAAATTGATATTTTGGAAAAAATAACTCATCTTGATAAGACAGTAAAA GATGAGGGTGGCTTTTTGTAATATCTAATATTTTCCTTGAAATATATGTA TTACGGAGAGAGAGAGAGAGACACTTGGCCAAGTAAACTGAATCTAAATC ATGTTTTGAAACTTGTCAATCTTCTCACTCTTGTTAGTAAATACATGCAG CAATTTTAATAAGCACACATCACTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTGTCACCCAGGCTGGAGTGCAGTGACGCAATTTCAGCTCACTGCAAC CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCTGGAGTAGC TGGGACTACAGGCTCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGATTTCACCAGATTGGTCAGGCTGGTCTTGAACTCCTGACC TCAGGTAATCCACCTGCCTCGGCCTCACAAAGTGTTGGGATTACAGGCGT GAGCCACACATTTGGAGACTAAAGAAAATGCTCTTCTTTGCCTGTCAGCA TTCCGAAGAGACAAAGAAAAATTGGGAATGCTGGTGTTTATGCCATCGTG GTTATGCCCAGAGATAAACGTGTGGCAGCGGTGTTATGTCCTAACCTTTG GGCAGGTTATAGCACTTGGGGGTGGCCTGAAGAAAAGGCAAGGCAGAAAG TAGTAGAATAACAGGTAAGTAAACTTATCTGATGATTATCTAAAAGATTT AAGAAAAAGACCAAAATGTGTGGTTACACATAGGTAAGATTAGAGGTAAC AAAAGAAGTGAAATTCTCCCAAAGAGCCTGAGCCAAATGGAAGCTGTGGA TCCACTTCGGCGAAGTCAGTAGCAGAAATCTGTCCTCCATAACGCACTCC TTGCTAAGCCTCTACTCATGCGACCATGTGTGGGAAGTGACCAGCTGTAG TGCCCAGAGAGAGGGAGAAAGGTGGGGAGAGGATGTCGCGGGTCAGTAAG GAGGACCCAGAAGTGGGGATGGGCATGGAGATGCAAAGCTGTTTCCACGT GAGCTGACCCTAACGGTCTTCCGTCTTTCCAGAGGAAGATTTCCATTTGT TTTTGTTATTATGCACTTGAGTTAATTCACCCAACAAACACACATGAACG TCTCCACGTGGCAGCCACAGTCGGAGCCAAGATAGCGACGGCTCCCGCCT CGGGGAGTTCACAGCCGGAGAGATGAAACATGAATAACTATGACCATGCC ACTGCAAGTGAAAGGAAATGTCCTCAGGTGAAAGAGTTTAGTGCCATGAA GAATATGACACAGGAATGTCACCCACACAAAGGGGTCAGGACGGGCCCTG CTGAGCTGTACCACAAGGTGGGAGCTGCAGTCAACAAGGGCCAAGAGGTG TCTGGGGAAGGTGTTGCAGGGGCGGGGAACAGCGAATTCAGGACCTGGGA GAGAAGGCCTCACAGGGCCCCAGGGTAGGAGAAAGGGCCAGGCCG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0305 a0001c0002t0003g0305	1	396	0.0025	-3544	c.130 others(17): Show c.130-4956_130-1413del	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding	1/4			chr18	TogoVar
KAZN_chr1_14593685_15123043	15013582	CGTCTCTA others(3537): Show CGTCTCTATTAAAAAAATATAAAAATTAGCTGGGCTTGGTGGTGGGCGCC TGTAGTTCCAGCTACTCAGAGGCTGAGGCGGGAGAATCGCTTGAGCCTGG GAGGCGGAGGTTGAATGAGCTGAGATCGCACCATTGCACTCCAACCTGGG CGAAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAGAGATGGGAGA ACAGTACAGCTACTCCAAAAAGCTGATCAGGTGACTGAGGAGCTGAAGGA GGCAGGAGAGTGAGCCACGTGCATGGGATTGGGGTGAGGTGGGGCAGGGG CATTTCAGGCAGAGTGGATGGGAAGTGCAAAGGCCCCGTGGCATGCTAGA GAAATCGTTGCTCTGCAGTTCGGAAATTCTTTGCTTGCCTGTCTCTCCAT TTACTCAGGAAGGATGCTTAAGTGAACCCATGGCCGAGAGCCTCACAGAA CTGGAGCTCATTCCGGAGGAGGGTTTTGTCTTAGGCTGAGCAGAAACTAA GAACCGAGTTTGCTCTCTGGTCCAAGAAAAGGGCTGAAATTCTGCCCTTG GTCCTTCTGAATGAGTCTCGAATCCTTCAGGCCACCTCTACCCAGGTACC CCCAGAGCCATCCACACCTGCAGGATTCTGGGAGGCAGGGAGAGTTTGTC TAAGAATCAGAAATCTGTGATTTAGACCTCTGATTCATTTGTGAGGAAGT GACTTTTACTTTCTGAGCCTCAGTTTCTGCATCTATGAAGGGAGCCCATA GGTTCCCACCCTGCCCACCTTGCAGGGTGCTTCTAAGATGGGCAAATGTT TTCTCAACCACAGTGCTCCACGGCGGAGGCTGGGTATGGTTATCATTGCT GCTCCTGTTGGTTTTTTGTATAATTCTGTCACCTTCTTCAGTGTCAGACC CTCTCCAGACCTAGTGGTCCCCAGATTAACCCTTCAAGCTCTGCTGGATG AGCCTCTCGTGGCACGGCATTTCCAGCACGTTGGAAAAGCGCCCTAAAAC CCTGCTCCGGGCTTCTTGTGTGGGAGAGCATTTGCTGGCACCCATGGAAC TCTGCCATCTGTCACTGTCCAGAAAGCCTTCCTCCCGGGAAGAATCTTGG CACATACCTCTTGCTTAGAGCTAAGGAAGGGCAGTTAGCTGAAAGCTGCA GGCAATTCTAAAGGGATGGTCAGACAGTCAGCTTGTGGGGCTGAGGCCAT CTGCAATTCTAAAGGGATGGTCAGGCAGTCAGCGTGTGGGGCTGAGGCCA CCTGTCCCGCCTTCCGTGCCCTCACCCTGCCTGGCACTGGCCCAGTTGTT TTCTCGGGTCATGAGAAATAAGCCTCTGGAGGCTGGCGCTTCTCTACTGT GGGACCTTGGCTGCATGACTTCCCCTCTCTGTGCCTCAATTGTCCCTTCT ATAAAATGGGAATCATAGTAGTTAATAATTATAGCACCTTCTTCAGAGGA TTAATAATATATAAAGTTTTAGAACACTTCTGACACATAGTATGAACTAA AGACTGCTTTTTTCAAGTTTATAAGAACTTTAAAAACTGAAGTTTTTTCT TTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGT CTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCTTCAGCCTCCTGGGT AGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTT TAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTTGATCTCCTG ACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGCG TGAGCCACCGGGCCCGGCCATAAAAACTGATGTTTTTAAACATGGTTTAA AAACAAAGCTCACGGCCAGTTGCCCGATGCTCTGTGCGGCTGGAGCTGTC TCTCGGGTGAAGAGTGGTCCTGAGGTGGCCCTCTGTGGCAGCTGGCACGG TTGAGCTGCAGGGATCTGGGGCTTCCCTCCCTCCTCCAGTGGGACCTTCT AAGGACAAACCGTCAGCATGGGCAGGTCTAGGACCTGAGTCAGGCTGGTC ACCCCTTTCTGGGTCTGCTCCACAGGTCCTTCTATATTTTAAGGGTTTCC TGGTGACCACCATCCCTTCTGGTGGGCACAGTCCCCCTTGGACCCATTGC CTCGTCTTTGCTGCTGCTATCCCACTCCAAGCCACTGTCTTGCTTCCTGA GCAGCAGCAAAACCCTGACCGGCCTACCTGTCTCCACCTGTCCCCAAGTC CCCAATCCAGTCTCCGCAAGGCAGACACTGTGATCGGAGGGCAGGGCGCC CCCACTTAACCCCGTCCCTGCTCTGCTGGGTTGAACAGTGGTCCCTGGGT AGATACCTCCACCCGGAACCTGTGCACATGGCCTCATTTGCAAACAGATT CTTGGCCGATGGTGTTAAGGTGAAGATCTCGAGATGAGATCATTCTGGGA CAAGTGTACTTGGAAGAGAAGAGAAGAGAGGAGCACTGAGGGGAGAAGGT GATGAGAAGACAGAGGCTGAGGTCAGGGTGACACATCTACAGGCCGACGG ACGCCAGGGACTGTGGCGAAACTGGAAGCTGGAGGAGACTTTGAAGGGGA TGTGGCTCTGCCACACCTTGATTTCGAGCTTCTGGCCTCTGAAACTACCA GAGAAGGCTTTTTTGTTTTTTGAGACAGAGTCTCACTTTTGTTGCCTAGG CTGGAGTGCAATGACGCGATCTCAGCCCACTGCAACCTCTGCCTCCCAGG ATCAAATCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCG CATGCCACCGTGCCCGGCTCAATTTTGTATTTTTAGTACAGACAGAGTTT CACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACC CACCTCGGCCTCCCAAAGAGATGGGATTACAGGCATGAGCCACCGTGCCC AGCCTTGAGAATGCATTTGTTTTAAGCCCTCAGATTGTGGCAATGTGTTA CGGAAGCCACAGGAAACTGACGCAAGTGGCTTCCCACTTCCCTGCAGGGA AACCCAGGCTCATCTGCACAAGGCCCCTCCCTGGCCTTCGCTTCTAGAAA ATACTGAGCTCTTTGCTGCCTCAGGGCCTTTGCACTTGCCCTTCCCTCTG CCGGAACATTCTTCCTCTCGGCATGTATGGCAGCTTCTCCATCCTTCAGG CCTCACACAGGTCTTCACAGACCACGCCACCGGCGGCCCAGGATTCTGTT TGTTTACTTCTCAGCACTGACCTCAGTGTGTATTTAAATAATTGCATTTA AATAATAATTAAACATGTGTCATGTGCTTGTTTGTCTTCCTTGCTCCAAC ATAGTATCCATGGGAATAAAGACCTTATCTGTCTGGTTGGGCGCCGTGGC TTATGCCTGTAATCGCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTAAAACCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0125 a0001c0003t0004g0125	1	146	0.0069	-3544	c.419 others(19): Show c.419-21159_419-17616del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS1_chr8_96256902_96341995	96336018	TTTTCCCT others(3536): Show TTTTCCCTTTTTTTCATTCTTGGTCTTCCCAAAGCTTCTTCCCACATTTC GTTTGTGTCTGTTTCCACCATTCATAGAAACCTTGGAACCACTCTCACAG CAATGCTAGGATGTTTCATGGACCTGTTAAGCATTTTGATGATACAAGAC ATCCTATCAATGCCAGTCTTATTTTCGCTAGGACTCTGCTTCCACAGTAA GCTCCTAAGGTGCTCACCCAACCCAGGAGAAAACAAAATTCATTACCAAA TACAACAGGTTCAGCCTTCTTGGTCTTCCCTCAGAAGCCACCGTGTAGCA CCCTGGAATGATGCCTCTTTATGCCAAGGCCCACCCTTTGGAATTGGGAG GGTTTTGGGTAGAATCCTGCACTTACAGAGGCCCTTGGGGTCATTGAGAA GTGGAGGAGGTTGGACACAGAAGGGGAGGCTAAACACAAGGTGGGGAAGA AAAAATGTAACCATTGGCAGCCAGACTGAAGCTAGCCCTTTAAAATACGG GGTTGGGGGGTTAACATCCGCTCTTTGGAATGTGCTCAGTGACTGCTGCA GAGTTCCTGGGCCACCCTAATGTTTACCAGGTGGGCGTTGTTTATATGGT TCTTATTGTTATGACAACTAGAAATCCCACAGTAGACTAGACAGTGCTCC CTACCATTTCCCATTTATAGGATTGAAATCAAGATGTAAGGAGAGCTGGC CGGGCGCAGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTG GGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTG AAACCCTGTCTCTGCTGAAAATACTTAAATTAGCCGGGCATGGTGGCAGG CACCTGTAGTCCCAGCTACTCGGGAGACAGAGACAGAAGAAATGCTTGAA CCCAGGAGGTGGAGGTTCCAGTGAGCCGAGATCACGCCACCGCACTCTCT AACCTGGGCGACAGAGCGAGACTATCTCAAAAAAAAAAAAAAAAAAAAAA AAAAACTGTAAGGCGAGCTAAGACGTCTGTCTATCAGTGTTCCATTACAT AATACACCTCTTTCCTTCACATGTGTGTGCACATTCTCAGGATTATATTA GAGATTTGATTCTTTGCAAGGGTCAGTATCAGTAATGGCTGAGACTGGTG GGCTGCAGTCATGTTGCTATGCCGTAAGAGGTTTTTACAACATTTCCCCT TATCACACTTTATTCTAACCTGATGATGGGCCTATCTCAGGTGAAGATTG CAATAGTTTCCTTAATTGAACTTTGGTATTTGATGCATTAAATAAATATG GCTTTTTAATTTTGCTATCTTCTGTGAATTTAAAGGAATTATTTCATTGA TGTCTACCAAAGAAGATAAAAAAACAGTTGGATGTGAAATTTTTTTAGGT TGTGGGAATGCTACGTTGTAAAAATCTTCCTTTTCTTCCATGTTCACTAA AAAATGCCTTTAGTCCATTTCAGAAAGTTCATCTGTGACTTGGTCTACTC TGATATTCCCTTTCTTGCAGCTTGTTAGGTGGAATTTTGAAGTTGCTTGT CCTGCAAAGAGATATTTGTTGTCACAGTCTAACAGTGTTCAAGGGTTTGC AACATGTCCAAGTACCTCCAAGGCCTCACAGGGCTAAGCTGAATTTATCC CTCATGATACTCTGATACTCATAATACTCTGGTTGAAGCCTGGTCTCTAC CTCCATATTCAGTACACCCAGCTGGGGAGGCGGGTGACAGCAAGCTTCCT GCCTGCATTTCTAGCAAAAGGGACTCCTAAGCCCCAGCATTGTTGTCCTC TTGGAGCAGAGAGAAGGGTGTTGGCAGATCCCTTCCCCTCTCGTAACCCC AGTGAGGACAGTAACATCATTCAGAACATAGAATTTACCCAAGGGTTTTG CTTTCACAGCTGATGCAACCAACCACCCAGCCTCTTTAAGTGATCTGGGC TCACGCTCGTACTTGTGCCTGGGAGTTAATTGCTGGTTTTTCTTTGTTAC TGGAATGCTCAAGACATCACCCTGGCCAGGGTCTGCAAACTGTGGGCACC GACAGTGCCCTGCGGTGGCAGGAAGATTTGCTCAGAGCTGTGACCTCCTG CCCCTCGGAGCAGTCATCCCAGGGCGTCAGAGCCTGGTGTTCCATTGTAG GGTGTGGCCCCTTTCTGGATGCTGAGTAAAGGAGACTCTTGTGGTTTTAC AAACCACAGGAAATGAAGTTTGTCTGCCTTTAAAAGAAAATTGGTTTTCT AACATTTGAGACTAAAAAAACCAAAATATTTCATTATCGTGTCTGAAGTA TACACACAATAGCTTTCATTACAGAGTCAAATTGCAGGCAAGGTTTATGT AACAATCCATACTGGAAATCCGGGCTGTAAGCCTGACTGTTCCCACCCGC CCGACAAAGGGCTGTTTGGGCTCAATCTCATCTCTCCAACTGCATACGTC ATGGACTGATTAGGTATTTTATGAGTGCAGCGTGGGAAAGGCTTAAGAAA GATCTTCAGCTTTCAAAATGTTAGGGATCCTCCACCTCTCTTAGAGTGGA TGAAATCCAGACCAGGAGCAGGGGAATAAGAGTTCACTAGGGCCACTGCT AACATGACTTCCAGACAGTGGCATTCAGAGGATTGGAGCCTTCAAAACAC CCCCGTGTGGGGCTCTCCGCACCCCTTCCCTCTCGTCCCTGAATCCTCCC AGCAGCCACAGTAACACAAGCTTGCACATAGAGCACACGGCCAGGAGGTG CCCGGGGGCCACCGGAGCAACACAGCCTGAGACTCTGTGCCAGGCTCCTC CCCTGGATTCTTGTGCACATGTCTTACTCCTATCAGCAGACCACAGCCCC ATAGATCCTCACTGGCCTCAGAGCTGGCAAATGGATGGCAAGGAGCTGGT TCCCTGGTGACCGCCACACCTTTGCTCCTCCTCCTCCTCCTTGGAAGGAG ACTCAGATCTCAGGTGCTTGCTTGATTAGAGATGGCCACACCTCCAAGCC ACTCTTCAGGTGGCTCCAGGGGTGGTTGGCTGGTTGCGTGCTCTGTGGAC AGAATAACTGGTGTTGGCCTTCGTTGTCTTTTGTGTCCTGTGAGTAGGCA GACTCCGGCCTTGACATCCCTGTGTTTCTGTGGCCTGAAATCAGTCGAGA TGCCAGCTCTTGAACAGGGTCCCCATACTCCACGTGGATTCTTTTCCCAA TGTTTTGACGCATTCTGCAAACTGTTGGAAGGCAATTTCTCTCCCCTGTA GCAGCTCCCTCTGCCCTCAGGAATGTGATTTACAATCTGATGAGGCCATA AACCTCTACTTTTCACGTCTGAAAAACAGCAAAGTATGGGAAAGAATGTA AATTATAAATACTGAATTCCTATGGTCAGCAATAATGGAATGGCCTGGGT GGGTTATTTTTTTTAATATGGTATGCATATGGCTTTAATTTCGAAGGGGT TGGGTCCTCCCCCACCACTGTATTTCTTGGGAGAACAGATAACAGCAAAA TGTCCTGCTGTGATACGGTGTTTTTCCAAAATGAAAAAATAGCA	T T	splice_region_variant splice_region_variant	LOW	HG01070.hp1 HG02886.hp1 HG03130.hp2 others(1): Show HG01070.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0062 a0001c0001t0012g0063 others(1): Show a0001c0001t0012g0051 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0012g0146	4	262	0.0153	-3543	c.24 others(11): Show c.2453_*5995del	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	13/13			chr8	TogoVar
SHC4_chr15_48818741_48968919	48892129	ACAGGCGT others(3536): Show ACAGGCGTGAGCCACCGCGCCCGGCCATGCAGACCCATTTTTAAAACTAC AGCTATGATATTTTGTAGTGCAGAGCGATGTTCTTCTAGAAAATACTTTT GAAAGATAAGCAGAATTCCCAAAGATTCTAGGCATTATTTTGCACTTATA ATGTATGTTTTAGCTCAGATCATTTTTTCTATATAAATGAAACTCTTCTT CAAGGTATTATCTTGTCTGATTTTTGCATAATTATCTGCAACCAAAGGAT AGAATGGATCTTTGGTTAGCATATATTCTCAGAATTTCATATTTATTGTT TCTCTAGGATTCTATCCTTTGTTCTCTGGAGTCAAATAGAAGGATAACAC AGATAGTTGGGCCCTCTGGCTTGGTTGGTTGATTGACATTTTGAGTCATC TTAATGACTACTCAATAATTGATAAGACTCATATTATTAATCCAAATTGG CACTGATACTGCCGAAATAGCTAGTCCAGGCACCCCACTCTATTGACAGT ATTTAATAAAGAGGTATTATAAGATAGGGCAGATCCTTTAATCCATGAGA GTGATTTGGATGTTTTGGTCTAAAAATACAAAAAATTAGCCAGGCATGGT GGCAGGCACCAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCT CTTGAAGCCGAGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCA CTCCAGCCTGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAA AAAGTTGACTATAAATGATATGAACTTAAAGTAAAAACAAAGGTGGATAT TGATGCTGCCAAATATAATAACAACAATAATAAAAATATAACAATAATTA TATGCCAAATATAGTAACTTTTTACTAGAAGTTGTTACTTTTATATAGCA TCTTGTAATTTCACAAACTGTTTTCCCACACGTTTGTTTTCTTGATTCTC ACACCAATTATCAATATCTTCTAACAAAAAGTAATGCAGTGAATTGAAGC TGAAGGGAATACTTTACAGCATGAATACCTCTCAAGGAGGTTTTGAAAGG ATGAACCTTCCTGGCAGGGAGGGGATTGGAAATTCTAGACAGACAGAAGA ACATAGGTGAAGACACCAAAACACAAAGTATCATGATATGAGGGGAATTA CAGGTACTTTGATATTGCTGGAGCATAACATATGGTAGTAGAAGAGTGAA TATTAACTAAGAAATAAGAGTCTAAAAACTGTTTCTGTGAAGTGCCAGAC GGTAAATATTTCAGACTTTGCTCTTTTGCAAGTACTCAACTCTGCCATTG TAGCACAAAAAGCAGCCTTAGCCAATATGTAGACAAGTGAGCATGGCTGT GTTCCAATAAAACTTTATTTATAGAAACTGAAGGCTGGCCAGATTTGGCC CATGGGCCATAGTTTGTTGACCCCTGGATCCGATAATTCACACAAAAGGA GGGAGAAATCATTTGGCTTTTTAAGACGGGAAAATATTCACATTCATTAT AATTTTAAAATTGAAAATTAAAACAACAAGATACTTCACTCATATTAAAT TAGGAAAAAAGATACAAAACCCAGTGTTGGAAAAGATGGGAAATATTCTG CTTTAGGCATATTTATCCATTGCCAGGGGCCTTGGTTAGTATTAATACAA TCTGAGAGTAATTTGGTAAAAGTTGACAAATGTCAAAATTTATCAGAGCA CAGGTGGGGCGTGGTGGCACATACTTGTAGTCCCAGCTACTTGGAAGGAT TGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGCCACTGCACTCCCACCTGG GTGACAGAGCGAGGCCCTGCCTCTAAAAACAATTTGTTTAAATAACTTAT TACAAACTTCGACAAGGTGGGGAGAAGCCTGTATTGGGATAGCATTGAGT ATATAAGTAAAAGAAACACTTCAAGTAAGAAACCAACCCGAAGTCTTGTG ATATAGAGATAAAACATATCAAAATAAATATTGCCACTCGGACTATAGAA ATATGAAGAAGTCTATATAAATTAGTGTGAAAAAGTAGAACTTGCAACAG TATGTACACATTGGTAGCAGCTATACAAAATTAATCCTGTGTCAATAGTA ATATAGAAAGAGCTTGTAAACTATGGCTTGGTTTTAGGTGCTTTTTTTGT GGTTTGCTATTTTGTTTCTGATTCTACCGATGTTTAGATATAAACAAGGT AAACAATGTTATGTTTTACTTTCATTGTGCACTTGATCGGATAAGTAATC CTTTAAAATATTGAAAATAATGCAGAGTAAGTTCCTTCAGCAGGAGTTTT GCTAGTGTGAGGCAAAGGTGTTGAGATGTGAAGGCACATCAAAGATGTCC CAATGGAGAGGTGACACCCATAGAGAGACGGGACAATGTTCCTGTTATGG ATACTAACAGATGTTCTTTATTTCTCTCTCTGCTCCCATTCCAGCTTAGC TTTTAACCCCTCCATCTTTGTAGCCACTAAATCCAGATTTCCTTTTTCAG TTTTTTAAGTAGAGTTACCTGTTTCTATTCCCAAAAGTTTCATAAAGATA AAAAATCTTGAGCACGTTTAGTAAAGCCTTTTAGAATGGTGCACCTTGCA GTAGCAGGGAGCCCGAGTTTCAGTGAAAGAACAGCCTCTATTTATATTTA TTTATTTAATTTTTTTGCTTTTGTAGAGATGGGGGTCTCACTCTGTTGCC AGGTTGGAGTGCAGTGGTGGGATCATAGCTCAATGCAGCCTCAACCTCCT TGGGTTCAAGCAGTCCTCCCACCTCAACCTCCCCTGTGGCTGGGACCACT ACAACTGGCAAAAACCGCCACAATTAGCTAATTTTTTCTTTTCCTTTTTT ATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCCTGGGTTGGTCTTGAAC TCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTCCCAAAGTGCTGGGATT AGAGGTGTGAGCCACAGCTCCTGGCCAGCCCCTATTTACTGAGCACTCTT TATGGTCAGGCCCAGAAGTGAGCACCTTATGTACATCATTTCATTGAGTC ATAACAGTACCATTCCAAGGTATGGACTTTACCCTCATTTTACCAATGAG GATAATAAAGTTCAAATAATTTAAATAACTGTACAAATAACGCAATTGAC AGTGAGAGAGACAGAATGCAAATCCAGTTCTGACTTCAAAACCCACAAGC ACCGGGGAGGAACCATATTGCCAGATGGATAAAAAGGAGGGAGTCCTAGG CTCCAGAGACTAGGGAAAGTAGTATATTGACTGTCCTTCCCTTGTTCACT CCCCTAACATAGTGAGGCGCAGCTCTTTGGCCAATCGTTAATACCCGCGT GGCTGGTAAACTACCCAGGCAAAAGGACAAAGTGGTAGGGGCTGACTCTA GAAAAGGCTTACTCGGATGCCCCTGCCCTTCCCCAGCCCTCTGCTGTCTA TGGCTGGCTGCCACCTCCTGGAAGAAACGAGCATCTGGAGCCAGGCTGTG CCCACCTGGGCAAACACATATGAGTGTGCACTCACACGCTCACT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18945.hp2 NA18946.hp1 others(8): Show NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18978.hp1 NA18981.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0218 a0001c0002t0004g0221 others(8): Show a0001c0002t0004g0105 a0001c0002t0004g0218 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0248 a0001c0002t0004g0253 a0001c0002t0004g0264	11	384	0.0287	-3543	c.657 others(17): Show c.657-4861_657-1319del	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
ACSM1_chr16_20618235_20702680	20698233	ACCTCCAA others(3531): Show ACCTCCAATTCCGGTGGCATGGCTAGGGGTGTGAATGAACTAGATCCAAT GGTGCATTTTCACTAGTTCTCTGTGGCTAACCTGCTCCCCCTTCCCAGCC CTACATCACCATAGTCTCCCTTAAATGACAGCTGAGAGTCAGTGTAGCCT AATGGATAAGAGCCTGGGCTCTGGAGGTCTGGAGGCAGAAAGGTCTGAGT TTGAGCCTTAGGTCTGCCACTTAACCTCCATGTCATCTTTGTGGACCTTC TTGCTCTGGGCCTCACCTCCCTTAATTGGTTTTCGGTTGCTTTTGAGACA GAATCTCATGCTGTCACCCAGGCTGGAATGCAATGGCATGGTCTTGGCTC ACTGCAACCTCCGCCTCCCAGGTTTAATTGAGTCTCTTGCCTCAGCCTCC CAAGTAGCTGGGATTATAGGTGCCCGCCACCACACCCAGTTAATTTTTGT ATTTTTAATAGAGACAGGGTTTCATCATGTTGGCCAGGGTGGTCTTGAGC TCTTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCTAAAGTGCTGGGATT ACAGGCATGAGCCACAGCACCCAACACCTACCTTATTTGTAAAATAGGAA TGATAACAACAATACCTACCTCCCAGGGTGTTTTCTTTGCTTCTTCATTT GTTTGTTAGAACTAGATGAAATAATTTATAAAAAGCATGTAGCACACGGT GCTGGGCATAGTCGATGTTGGCTCTTTTTATTCACTTGGGATTCTCAGAG GAACAATTTGGTATCCTGGTAAAATGCAGGGTCTTTGGAATCCCAAAGTC TTGAGCTTAATTAAGTCCAACCTCAGGCACTCACAAGAAAGCTCTTGGGT GAACCATTTTCCTTTCAAAGCTTGGTCTTGACATTTGTAAAATGAAGCAG GATTTGTTAATAAGATTTGTTGCATGGGATCATTGAAAGGATTATGTGAC ACCAAGCCTGTAAAGCACCTGGACCAGGCATTTAGATGGAGGGTTGATAG TGATATTGCATTGGATAAACCAAGGTAGTCATAGGTAGCGGCTTGTACTA TGACTTTTCTACTGGAGCCATTTTTGGGGCATTGTTAGAGAATGAGGGAT CTCCAGTATTTTCATTGAAGCTGGGAAGAAATTATTTCTGATCAAAGTCA TGGCTAAAGATTTCTGGAGACACCCAGGACATTCCTGACAGGACCGTGTG GCAAGCTAGGATAGTTTGGGTTTTTAATATTTAGCTTTCTGTGGCCAGTC ACTGGAGAGGTGAGAAGGCAGGGCTAGTTGACTGGCCATGGTAAGCTAAA CCTTAAACACCCAAAGCATCAAAGTACCAAAAAACAAAGAAACGAACAAA CAAAACAACTAACCAAAAAACCTCTGTTACTAAAGAGAAGGAGCAGCCAC TTTTCGGAAAAGAATGGAGACGGGGGAAAAGCCCTTGACACACTCTCTGC ATCTGAGTAGTTCTCCCCTGTGGAACTGCAACATGAAGGCATGGACAAGA AGACAGGCTCTGGCACCAGGCAGCCTGGGCTTGAGTCTAGCTTTTACCAG TTACCAGCTCTGTGACATTGAGCAGATTTCTTATCCCTCTTTTCCTCAAT TTTCTCATCTTTAACAAGAGGTATACAGCGGACAAAGGAAAACTCTCCAA ACATTCTATGTGTGCTCCTCTTTCATTTCCCAACCTCTCTTAAAGCTAAA GTGAGGCCATTAAACTCTAGTTCTGAACAATAAACTCCATGTGGAAGTGT TACAAGTCACTTCTGGCCTAGGGCATTTATTTAAGAGCAGGTATGAGTTT TCTGTACTCTCTTCCCCTGATTCAATGCTCCTGGAAACCATATATGGAGA TAGTGACATCGTAAAATGGCAAAGTCTCTATCAGCCTTGTTCTCTGAGTG ACTTCATGTAGCTAAATATCCTACCAACCTCAGCTTTTTGAACTTGCTAT CGTCTGCTTATTATAGAAAACCTATGATACATTCATTCATTCAGTGGATA TTTAAGGAACATTTAGGCGTGCTTTAAACATGTAAGACAAGGTTGGTGCT CTCAAGAGGTTTACATGCCTATGATAGAAAGGCAAAAGCCAATAAGCAAA AAGTCAATTAAATAAGCAAGAGGATTTCAAATGGTGATACTGCCAAAAAG AAAACAGAACAGGGCAATATGATGGAGAGAGTGTGGGGAGGTGGCTAAGG ATGTTCTCCCTTAAGAGGTGACATTTTGAGACCTGAAGGAGGAGAAGCAG CCAGCTAGGGAAAAAGAACTCCAGGCAAAAGCCACAGCAAGTGCAAAGCC TGAGGCTGACATTTTCAAGGCATAGGTGGGGGACTGGGATGGCAGATTAC TGAGTGAGAAGTATGATAAAGTGTGAGGTCAGAGACACAAGCAGGAGACA TGCCATTAAGGATCTTTATGGACATAATAAGGAGTTTGGATTCTATTCTA AGTGCAATGGGTGGGTGCATGGAAGTCTCGTGAAGATTTTAGGAGGAAAG AGACATGATCCTATTAAGTAACTCATTTTCTTGGTGACTTGATTTTGAAA TAAAGTAATACAGGAAAGTAAAACATTCAGAAAAAGAGGTCAGATTTGCA TTTAGAAAGCCCACTCTGGCAGTTCTGTGGAGAAGATATTTTAAGGAGGC AAGAATGGATGTGGGGATGCCAGTCGGGAGGCTACTGCAATAGACTAAAC AAGTAATGACGGTGGCTCAGACAAGAGTTATGGCACTGGAGATGGAGGTA AGCAGACGGATATGGGATAGATCTTTAAGACAACCTTAGGTGGACTTGTT GATGGTTTTGATAGGGAGTGAATAAAAAGAATCAAGGATGAATCTCAGCC TTTGACTTCTTCAATAATATAAATGGTAGGTCATAATTTATATATAAAAA ATGCTGAAAAGATTATATAGCACATACAAAGTCACGGAGGCTACAGAAGG CAGGAATAGGACTTGAATCATGATTTTATTTAAGCTAGTTTTTCCTGCTT ATAGGCTGTCTCTATCCTATCTGCCATGCTTCTCAATACTCTGGAATTGA TGACAATAGAAAATTCCAGTGTGGTTTTATTTTTGTTCAACCATGCCGTA TAAATTGACCAATGACTTCCCCACTCATCTCAGATCCAGTATTGCATGGA CTTGTATACTGTGGAAGGAGTGATTTGAAATAATGTTCGGAAGACACTTG ACAATGTCTACCATACAGCAAGTGCTTTTCAAAGGGTGGCTGTTACAAAT TTTTAAAAAGAAACTTCAGAGCCAGATAGACCAAACTGGAATCTTTTTAA AAAAATTTTTACTTTAAATTCTGGGATGCATGTGCAGAACATGCAGATTT GTTACACAGGTATACATGTGCCATGGTGGTTTGCCGCACCTATCAATCCG TCATCTAGGTTTTAAGCCCCATGTGCATTAAGTGTTTATCCTAATGCTCT CCCTCCCTTTCCTCCTCACCCCTTGACAGGCACTGGTGTGTGATGTTCCC CTCCCTGTGTCCATGTGTTATCATTGTTTAACTCCCACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03927.hp1 HG03704.hp2 HG03927.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0097 a0001c0008t0003g0260 a0001c0008t0003g0097 a0001c0008t0003g0260	2	318	0.0063	-3538	c.-41 others(10): Show c.-4187_-650del	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding		554		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110695373	TCTGGTAC others(3531): Show TCTGGTACCTAAGAAAAGCTTAGAGTCTTGTCATACAAGTAATCTTTCAG CAAGGGTTCAACACACGTGATGACCAGACTATTGTGCTACCCACCCCTCT CCCAGGAGCTAAAGTAGGCTGGGGGTACAAGAAGATGAAATGAATGAAGA ATGGAACCTTAAGGCTTAAAGCCAAGTAAGATTAATTGTATTTTATAGGC AATTGTTAGGGGTGAAGGAGGGGGAACCCATTAAAAAACTCTTTCACAGG CAATTGAAAAGGAAGGTCTTTATATTCAGTGACAGAAATAGTGAGGAACC TTGGGAAGATAGTTATGGGGTCCCCTGACCATATCCCATAAAACACTGTT TAAAGTTATGGGCCACAGACAGGCATGTTGCAAATTTCACTTTGGGAAGT ATTATTGCCCTCTTGGCAGGAAGGGGCCACTGGTAGGGGAAAGGGAGAGT AAACAGGAGCTGAAGTAAGAGGACCTTTTTTAGCCTTTTGAAAGACAATG TTATTCTATCTAAGAAGAGCCTATGTTGGTGCATTGCTATCAAAATTCAC ACAAATAAAAATTTGCATCAGTTTGTTTTCATGCACATGGATAGGATTCT CAGTTCAAATATTTCTCATTCCCACAATGGCTCATATGTCCTTTTCTGCC ATAATCACTCACATTCCACAAAGGCCATTATAGGTTGCTCTGTCCTTTTT GAAGTTTGGCAAAGTTTTGCCAAAGGAACACATAGAGGACAGTTTGGCTG GTTGGTGTCCCACTGATCCTAAAAAGAAGCAGTTGGACTGGGATAGAATT AGAGAGGGAAGGTTGTTGACCCAGGATAAGCTGCAAGTACGAGAAGTTCT CTGACTCATGATGGTGAACACAAAATGAAAAGCCATTCTTTAGCACCAAC GTCTCAGACCTGGGACATATAATAATGGTAGGAAAATGATCATGATGAAA AAACAAAATCCTCAAGAATTTTGATCACAGGCCCTATTGTAGACCAGTCA GTCCCCCAGAACCTAATCTTGTTGAAGTCTTTTGTTTTACAGACAGAGAA ACTGAGGCCAAGGAGGAGAGGCAGTTTACTCATGGTGATAATGAAGATTG AGTTTTTGGAGATGGTAGGAGTGTAGGAGTAGGGGGAAGATGAATAGAAG GAGGAAGAGAAGGAGAAGAAGGAGAAAGTGGAAGAAAGAATGTCCAATCA AACTCAGTGGTCTATAACCATTTGACTAAAAGCTGGTGCAAAGAGAAGTT CTTTCAGATACAAAAGTTCATTCAGCTACAATGTTCACAACCACATATAC CACATACTCCACTTTGGCTATACACTAAAATCACCCGGTGAGCTGTAAAA AATACTCATACCTGGGTCCCGCTCTGAGGTATCCTTATGTAAGTGGTTTG GGGGAAGGCCTGGGCATTAGGATTTTATATACTCCCCAAGAGACTCTGGT TTGAAGCCAAGGTTGGGAATCACTGACATAAAGGATTTTCTGTTTGGGGG CTGGAGTGGGTGGTGGTGGTGTGTGATTTTGATTTAAGGGTAATGGTTCT TTTAGAGTTCCTCCCCTAAACAAATGAAAGAGACTTATGAGGGGCCATTC TGACCTTGTAACTCAGAGCAAAGGAGAAAAAGGTTATTAACGCCCTGAAG TTGTAAGTGAAATTGGAGCTTATCTTAAAAATTAGCTGCAACTAGCCTGC TTGAGAGAGCGGGTCAAAACCAGTTAGAAATGACCATATAGCTATGATCT TTTATTTTGCTCAGTATTTTGGTATTTTTTGATTTACTTACTTGAAAGAC TGAAAAATATTTCAGGCTTTAGAGGTGGCTCTAAAACAGTTCTTTTCCAG TGTTGAAAAATCCCCACTATTGTAGAGGACCCCCAAGAATTTCATGTTCT AAAGTCTAAAATATAAGAGTTTTATTGGTGTAGACAAGAAAACATCAGGG TCCAGAAAGGGCCCTCATGTTTGTGATACTGTACTATAGATTTTCAAGAT GTTACCATTTGGGGAAACTGGGCAAAGGGAATATGGGATCTCTCTGTATT TTCTGCTACAACTGCAAGTGAATCTATAGTTATCTCAAAATAAAAAAAGT TTAATTTAAAAAGCGGCTTCAGAATATATTCTAATCCATACAGCCATTAA AACATTGTATCTTAATCACTACCAACCTAGGACTATCTCTGGCTGGAAGA CACTTAGGCCAATTTCCTTCCCAAACCATTGTTCTGACAGTACAAATGAG ACATGGATTTTTATCTGTTTCATGTCGTTTCTATCCCAAACGCTTTCACT TTTTTTAATGGTAAATTTCAACGTAATCTACAGGGGGCAAAAATCAGGGC TTGGCTGTTGTCCAAAACAAAATTATGCATGCTTTCATGTTTTGGCTTTC TAGTCTGCACCTACTTCTTCCTCCCCACATACCACACCACTCCACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACGCAGACACACTCCCCACCAATGGCACGAGGACCAATTCATGAG AAATTACAACTTAGAAATCAAACAAAAACTGTTTCAGGTTTTTACAAAGG AGTCATATTTGAACCACTGGTTCCTCTTCCTGTGCACTTCATAAAACTTG CTAAGCCGATGGTTTTCAGACCACCTGGCAAAAGAAACCAGTCAGCTGTA TTTCTGTTGAACAGAGGTTTTGCTGGTTCCCGGTAAATAGGAACAGTTTA CGAAAAGGACAGTCTCCTGGATAAGAAATCTGTTGTTAGGGCTGCCTTTT CTTCTTGCCCTGAGGAAGTTGGGCCTGCAAAGGATATTCAGAAGGGATTC TCCTATTTTCTCATTTTAGGCTGGTCAAGAGCAAACAACAAATTTGAAGA GTTTATCTCTGATTTGAGACAAATTCCTGTGCATTAAAATTAATGAGGAA CCCCCTCCCCACTCCACCATCACACACATTTTACGCCACCTCCCACACCC ATTCATTCAATGTTTATTTATTGGGTGACTACTATGTGCCAGGTATATAT TTTTCCATTACTACAGATGCTATTTATTATTCAAATCATATCCCACAATA TCTATCCCTTTTAGAACAAAGGGAAATATTTATTTATAATAAAGTGAAAC CATATGGCCATTTTGGTCTACCAGGCACAAATGTTTGTTTCTAAAGATAG GTCTTGAACTCCTTTGAAAATCAATAACTATTTCAAGGGCCCACATTCTG TACCCGACCTTTTTTGCTACAGGAAGTACTGGATTAAGTCCAGGCCTATC ACTAGGCCTGTCAATGAAGCTGAAAGATAAGGGCTGGAATTGAGGGCAGT GTAAAATGAAGTCAAGAAGAAAGGCTAATTCATGGCATTACCAGCAAGAC TGCTAAGGTGGCCATAGTGCTTAGTGTGGGGGCCTCTCAGGGAATAAGTC ACATAGCTTAAGGTGACTAAACTCTAAATTTGGTTTAGAATGACATCTGG TTGACAGCCACTAATTCAGCCACTCTCAACTACCTACCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0049 a0001c0002t0006 a0001c0002t0049	a0001c0002t0006g0040 a0001c0002t0049g0039 a0001c0002t0006g0040 a0001c0002t0049g0039	2	172	0.0116	-3538	c.609 others(17): Show c.609+1743_610-1043del	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
ASMT_chrX_1610059_1648081	1637229	ACACAGCC others(3530): Show ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTC ACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTG TCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGG CACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATC CTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAG TGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCC TCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	223	0.0045	-3537	c.910 others(16): Show c.910+687_911-2020del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADAM12_chr10_126007391_126393477	126348596	TACGTCCA others(3528): Show TACGTCCACTTTGTTCTAACAGAACACTCTTTTTATTCTGCAGGATGACT GAACTGAGATTTCCTCTGTCTCTGTGCCACGTGGACTTGCAAACTCACAG AGCCTTCATCACTGAGGAATGTTCTTTGACAGTCACTGTTTATGAGAGCG AACCATAAATTGGGATCCAAGTAGAATGATCAAATTTAGCAAATCAAAAT ATAGAACTTCCAGTTGAATCTAATTTCAGATAGACAATGAATAATTCTTT AGGATAAATATGTCCCATGCAATACTGAGGATATAATTACGCTAAGAAAA AATTCGTTGTTTATCTGAAATTCAGATTCAACTGGGAGTCCTGTTTTATC TGGCAATCCTAGGTCCATGCTTCCTTGAATGGTTTACAGGCCCGCAAAGC CAATACGTTTCAATAGATTCTTAGGAAACATGTTCTAGTTTCAAAATTTG AAGTTAACATGAGAATGCTTTACATTTAATTATTCTAGATAAATTCAGAG TGTACAGCACTATTTTCTATGGCACAGAATTTGAGACCAAATAACCTAGT GACATATTTGAGGGGGAAAAGGATCCTATGCTCACTGGAGAACACACCTC ATAGCAATTGGATCCTCTTTATCTCCCAGCTTCTGCAACCCAACTGCTGG AAGACAAAGTCTATACACAATGCAGTGTTTCATTCAGGGGCCCACATGAC TCCATCTGTCACCAAAGCACATGTTTGGCACGGACTGAAAGCCAAAAGCA GTCTAACAAATATTTCAAAACTGAATTTATATCTTTCTAACACATGGTTT ATATAGGGAGGTAATACCTAGAGAGCTTTGCAGTTCTCAAATAATATCCT GGCTCAACAACAAATGATGTATGCAGCAGACCACAATACCAAAATTATTT GCTTTTAAAACATGTTAAAGAAAGCTAAGTTTATGAGGGGGCTGGTGCCA GAGGTGCCTGTTTTAGTATGCAGTTGTTATAAAATAAGAGACAGGAATCC AAATATATCCACTATAAAATAAACATTTGCATAATTCCTTATACAAAGAG GAAACTTCCCTCTAAAGGTCCAATTGAGAATGAAATTATCAAAGGAAGCA ACTCCTATTTTGATGAACTTTCAACGTCCCTTACAGCCTCAACAATCCGC ATATCTCTTCCATCTAGGCAAACTGTTTCGACACCAGATCTATCAGATCT ATAACAATGCAAATACTATTACATTTATCTCTGCTAAGCAGAAAAAGATT ACATAATGGAACTCTCCGTGGGCAGAATCACACAGGTATGCTGGCTTGCT CTTCAGGTATGGGTTTTCTCCAGAAGACAGATTTCTAGATGGAAAATGCA TATGATTGAAATCTAGATATTTGTCTTTAGAGCCAAGAAGCCACATAGTA GCCTTTGTTTCATCTTTCCTTCAACTCTGTGATTGCACGTGGACACAGCT TCCATCTAAGAGAGAGTTGAGGGTACTTGTCACTGGCCGGCCAATGATAT TCTTATAAATATTTCAATGCTCTCCCTGTCCCCAAGAAGAAACTGGAAAA AATTGAAACAACTAAAACAAAGCAGCATCCACACACTGGCACACATTGTA ATTCCTAACTTTTCCAGTGTGCCCTAAAGATTACTGTTCATGTCAAGGGC TGGGTGGGGAGCAAAGAAATTGTCAAATTGATTTTCTGTGGAATCAAGCA ATTTGTGTTTTTCAACTTGACAGTATCAGCATAAATCAGAGCCACATGGA GAGAAACTCTCCTCTTGAAAATACACACCCACACACAGAGTCGGCCAAGC CCGAGTGAAGCAAGTTCTCTACAAGGCTGACTTTGAGAAAGGGAGGAAGA GGGGAGAGGAATTCAGCCCCGGGACAGAGACAGCTGCCTGGGCATGGCCA CCACAACTAGACTCACCTGGCCCTGTCAACTCCATCATTCTAGGAAGTTC CTGCTCCAGAGCCTGACTCTGTCCATCTCTTGGAGCATTTTCCGCAGTGA CCTGCATGTGTGAGCAGCTGTGTCTGTTGTCAGTGGCAGTCTTGTGTCGG ATGTCTCCCAGTTGCCAGGCACTTGACAGATTACAAAGTGCTTCCCACAT GTGTCACCTCACATCGGTGCACAGGAATGCTGCAGGAAGTTTGATTCATC CCATTCTACTGAGCAGGGGATAGGGTGAGTGGGAAGTGAGCCTTGGAGGC CGGGCACCTGGCCAGAATTCACGCCTCTGGCAGTGGGCAGAGCTCAGGCT CACATCCAGGGCTCTGCCTTGCCATGGGTACCTCAGATCCAGAGTATCCT GTGACCTGAACTGCTGCCGACCCCCGGAGCCCTGCCCCTTCCCCTGTCCA GGCTCTCCTGCATGGCACCTTTGCTCATGCTGGTCTTCCATCAGTCTGGG CCATGTTCCCCCACCACAGTGTACCCATATCGGTCACATAGTGAAATGAA GCAGGGTGTGGAAAGCAGGCCATGGCCAGGATTTCAAGCGAAGCTAGGCT GTGGCAGAGGTGTCCACGGGCAGTGCCCTCAGCCCGGAGGCCCAGACCCC ACCTGTTCAGCCCAAAGCTGGCACCAGACAACATGTGCCCTGCTCCCCCA CCCCACCCTGCCCTTCCCTTCTGTCCCAACTTCCCCCTTTAGTCTCGGCT TTCCTGCAGCTGTCCGGACCTCACCAGATGTGTCCTGGTTGTGACTGGCT TCTGGGAGCTCTGTCCTCTGCCAGCCCTATCCAAATCAAGAGGGTTCCCA CTGGATAGGCCAGTTCTTGGCCTCACTGGTGGTCACCATCCTGCATGCTT GCACTACAATGGATCCCTGTCTGAAGCCTCCTACAAGAAATGGTCCCTCC TGCTCTGGCCCTCTGGTGCTGGATTTCCCTGCCTGACACAGAGCCCATGC ATGGCATGTGCTTACTACCTGGCCACACTGGAGGGGAGCTGACTCCTTGC GACAGAGACTGCCGCTTCCTCTCCTCGGATCCCCCAGCACTGCACCTTGG ACCTCCCACATGCTACATCAACATGCTGAATAGATGTGATAGAGAAGGGG GAGGTCCAGAAGCCCTCCAGTGACCTGCATGAAAACACCCCCTGGTTGAT GGGTTTGGATCCAGGATCCAGGAACAAATCTCAAACCTCCTCATCAAGAC AATGCCTTCAACTGTGCATTGCTCTCCCTGCACCCCCACCCCCAGTGAGA AGTGCTGAGTGCCCAAAGACTCTAGTTGGCTTCAGGGGTTATTTATAATC CCCCCACTCCAGCACTCAGCCCTCATCTGGCCTTTGGACACACACAGGAA GAGTGGACTGAGAAAGTACTCTCGGGTCACTATAGGACTCCGGCCTCGTC CCCTCTGCTTTAGACAAAGACTCACTGAGTTGTTCAGGGACTTCACTGAA GACCTCCGGCCTCAAGCCTCAGAACCCAGCACTCAACAGCACCCCTCAAA GGGCCAGACACACCCAGCTGGCTTGATGGAGGTGTCCTCGGCGGTGCTGA CACTTAACATAAGGTCAAGGGGGGAACAAATTATTC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0078 a0001c0008t0001g0078	1	252	0.0040	-3535	c.89- others(17): Show c.89-21622_89-18088del	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	1/22			chr10	TogoVar
LMNTD1_chr12_25471082_25558283	25481036	AGTTATAC others(3520): Show AGTTATACCCCCCTCTTATTCCTCCCACCACAGAGTCTTTGGGCTTGCCA TTTCTACTGCTGAACTCTTCACTCCACATCCCACGTGGCTTGTTCCCTTG CCTTCTTCAGTACTGGCTGACATGTCACCTTCTTAGTGACACCTTCCTTG TCCATCCTATTTGAATCAAAGTAAACCTCCTTCAGCAGTTCCTTATCATC CTTCTCGGTTTATTTTCCAGCATATCACCACCTTCCAACATGCTATCTTA AAGTATTTATTTTGTATATTGTTCGTTTCCCATCACTAAAGTACAAGCTT CATGAAGACAGATAATTTTGTCTGTTTCTTGCCCTTGGCACCAGTCCAGG ATCTCCCTAGCACAGAGAACATAGCAGGCAAGTCATTCTATATTTAAGTT GTTTGCAAATAACTTCATATATTACTCTCCTAGATTGTGTGTACAACCAC CAAAGTATTTTCTAAACCAAAATTTGATACACGTGTCTGACGTTTTAAAG ACACTTCCAGATTTCTGTGCAGCCTCAACATAGACTTTGGGCACTAATGC TGCCATATTTTGGGAAAATTTTGAGGATTCAAAGACAATAAAATGGTGAT TTGAAATCAGGATCGTTCTGTAAAACATAGAACTTATCACTGCTAAACTG TGGCTGGATAGACAACAGGCTAAATCCCAATAGAAATTCTTTAAATCTCT GAAGAGGGTATCTTGTGTGACGGCTGTGGCTGTAGAGAGATTCTCGAGCA CTCAGGTTCTTTCAAATCGCAACCTAACTACCTAGTTTACTTACGTGAGG TCATCAACATATAGTAATATATTGCCTCTTCACACACACACACACACACA CACACACACACACACACACACATATAGTGAAAGGTGGTTGAAAAATTTCT CTAGGTTTGTATTTAAAGACCCTCAGTTGAGCAATAATGTTTCTTTGAAA CCTAAGTCTCTTCAGCAGTATTTTCCTTCCCTTGTGGTAATGGAAAATAG CTGACTATAGAAATAAATGAAATAATTTGGAAAACATTTCAGGATAAGTA TGAGGATAAAATGGATGCAAAAAATGAAGAAGTAATTTCTCATATTCTGC TTTAAACTTTAGGCTATACAATTGCTGTCATCAGCATGTACACATTTGAA AGTTATGAGGTAAAGTGATGAACTGGCTGTGTTTGATTAGAATCAATAGA AGATAACATGTTAAGAACAAATAACTTAACCCTGCATGTTAATCCCAGAA CCACATTAACTTCAGCAATCTCCATCAGCTTTAATTTTACATCCCCCAGT AACTATATTTTTTTATAGTTGTCAGAGACAGTCAATCTTAAAGTTCTAAG ATAGTCCATCTACTTTCATGAAGAAAAAAAAGAAACTGAAGCCTTCGATT TAACACAAATCTAAGTGCTACAATAAGGGATTATTAATACAGATCTGTTG ACCCATTATGCTTTTTGACAATGAATTGGGGATGTCTCTTTTCCTTTGAA CAAAATCAGCTAAATTTTGAATATATCTTTGAAAATGTTTCCAAGTGTCA ATCAGTCATAAAATTTAAGCGTTAGAAACAAGTGGCTGCTCCTAAAATGA AGAAACAGGAAGTGGTATCCATCTTATTTTCAGTTTTTCCAGAAGCCTCT CTTGTGTGTCCAGAGCAAGCACAGAATGTCTGCAGGACCCTTCTCTAATC CTCCTGGTGCTGAGTTGGTGAGTGTGTTTATGTCCTGCCTCTCACTTGAA GAGGCACACGCTTAGGAAACAGCTGTTGACAATTAAATTAATTATCATTT GTCAACAGCATTCTGAGGCCCAGAAAGTCTGTGTTCACGGAAAAGAATGC TGTCGGGCCGCAGTGCACTTTGGAGCGTGTGTTCACTTACAGGACCCATC TAGTTTGGTAAAGTATCTTTAAGATTAAGGTTTTCAAAGCAGTGACAATA ACAACTGCCACACAGTTCAGTAATCTCTGCCTCCTAACTTTAGGGTACTT GCTCATCACTTATTTCAGCATTTGTGTTTACCTTGCATTTTAACACAACC CTTAAAAATTAAGGACAAAGAGCAGAGACTAAAATGGATATAAGAAGTCT TAATGTGGGCTGGGCGTGGTGGCTCATGCCTATAATCTCAGCACTTTGGG AGGCTGAGATGGGAGCACTGCCTGAACTCAGAAGTTGGAGACCAGCCTTG GCAACATGGCAAAACCCTGTCTCTAAAAAAATACAAAAATTAGCCAGGCG TGGTTGTGCGCACCTTTAGTCCCAGCTACTCGGGAGGCTGAGGAGGGAGG ATTGCTTGAGTTCAGGGGTTGAGGCTGCAGTGAGCTATGATCATGCCACT GCACTCCAGCTTGGTGACAAAGGGAGATCCTGTCTCAAAAATTTATATTA AACAATTATTTTAAAAAGGAAATATCAATGTGGGCATTTAAGAATGAGTA GTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGG CCGAGGTGGGTGGATCATTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCA ACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCGGTCATG GTGGCGCTTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTTGAAGCAT CATTTGAACTCAGGAGGCGGAAGTTGCAGTGAGCCAAGATTGCGCCACTG TACTCCAAGCCAGGGCGACAGAGTGACATTCCATCTCAAAAAAAAAAAAA AAGAATGCATAGTTGACGGTTAAAGCTTAAGTTCCTTGGGTAATAACCCC AAACAATCTATGAATGAGAAATCTAACCATTTAACTCCTTGGTTAAAACA CTTGGACATAAATAGTCTGAAGAGCTAAATATGACAGAGGACCAAGAGCT TTAACTTGCTGACTAACCTTTCTTGGTTATGTCTATTTCTACAAAGTTCA GCCAAAAAGCGATTAACCTCAAACTTGACAGATGACTGAGAAAAAAACAA GTGTATTTAAGTCACCCGGATAGTTAACTTTTGTGTTTTTCTTTTGTAAA TTAAAAAAAAATGTTGGGAGTTGAGAATGAAAGAGACATATTTAGAAAAT ATACTTTATCCAATTAGAGCTTTCAATTAAAGTCAACTTCTTTCTAAATT ATTTTTGTTTTTAAAATAAAAGTGTTTACGTAGAAAAATAATTTGCATGA ATATGCTTCTTGAAGCATTGTTGTTTTTCGTTTTTTTGTTGTTTTAAGAG ACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGTTCAAA CAAACCTCTGGCCTTAGCCTTCCAAAGTGCTGGGATAACAGGTGTGAGCC ACTGCGCCTGGCCCAGCATTGTTTGTAATAAGAAACATTTGGTAAGGAAT TTAAATACCCCCTAGGTGAATGGGTGAGTACATTATGAGAGAATTGACCC AATAGCCATTTCTTTTTAAATTTATTTTTTTATTATACTTTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	388	0.0026	-3527	c.23 others(17): Show c.23-8103_*23-4577del	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	9/9			chr12	TogoVar
MBD3L5_chr19_7025578_7038011	7034485	TATATATA others(3519): Show TATATATAATTTATACATAATTATAAATACATTATGTATAATAAAATTAT ATACTATATAATTATATTATATACTATAATATATTTCTTATATAATTATA TTATAATATAATTTATATGTTATATAATTATATTTTATATTATAATATAA TGTATGTTATATAATTATATTTTATATTATAATATAATTTATATGTTATA TAATTATATTATATATTATAATACAATTTATATGTTATATAATTATATAT TATAATATAATTTATATGTTATATAATTATATTATATATTATAATATAAT TTATATGTTATTTAATTATATTATAAATTATAATATAATTTATATAGTAT ATAATTATACATATTATATATTAAAATATAATTTGTATATTATATAATTA TATATATTAAAATATAATTTATATATTATATAATTATATATATTATGTAT TATAATTATATTTATATATTATATTTATATAATTATATGTAATATATTTA ATTATATAATATAATTATATAATATATACGTATATTACATAATTATGATA TATAATTATATATAATTATATTATATATATTATATTATTATAATATAATA TATATAATATTATATTATATAATTATATATATTATATATATATATTATAT ATTATAATATTATATATAATATATATTATATATATATTATATTATATATA TATAATATATTATATTATATATAATAATTATAAAATATAATATATATTAT ATTATATAATATATAATTATACATAACTATATTATATATAATATATAATA TAATATAATATGAAATAATTTTATATAATTATATTATATTATATATATTA TATATTATATATTACATATTATATATATTATATATAATATATACTATATA ATATAATAAAATATATATTATACATAATATATAATATAATAATATATAAT TATATATAATATATATAATATACTATAATATAATTATATATAATTATATA TAATACAGTTATGTATAATTATATATTATATAATATAATATATATTATAT TATATAATTATAATATATATAATTATATATAATTATATAATATACCGATA TAGTATATATTATACAATTATATTATATAATTATATAAATATGATATATA AATATAATTATAATATATAATATATAATTACATAATATATAAATTATATA TTAATATATAATATATGTAAGTATATAATATATAAATTATATTATATATA TAATATAATTATATAACATATAAATTATATTATATATATAATATAATTAT ATAACATATAAATTATATTATATATATAATATAATTATATAACATATAAA TTATATTATATATATAATATAATTATATAACATATAAATTATATTATATA TAATATAATTCTATAACATATAAATTATATTATATATAATATAATTATAT AACATATAAATTATATTATATATAATATAATTATATAACATATAAATTAT ATTATATATAATATAATTATATAACATATAAATTATATTATATATAAAAT ATAATTATATAACATATAAATTATATTATAATATAAAATATAATTATATC ACGTATAAATTATATTATAATATAATTATATAAGAAATATATTATAGTAT ATAATATAATTATATAGTATATAATTGTATTATACATAATGTATTTATAA TTATGTATAAATTATATATAATGTATTTATAATTATATATAAATTATATA TAATGTATTTATAATTATATATAAATTATATATAATGTATTTATAATTAT ATATAAATTATATATTTATTTTTAGACACAGAGTCTTGCTCTGTCGCCCG GGCTGGTGTGCAGTAGCATCTGCTGATGGGCACTTCCTGCCACCCTAACT CTGCTAGAGTGAAAACAACCAGTAGTTTCCACCTAACCCGAGATGCATAA AATAATTACCATGAAGTATTCCATTCCATGTTTCGATCAATGATAAAGAG GTAAGGAAACTCAAAGTCAAACAGCGGGCAGGGACGTAGTATGTGTATAT ATTTATGTGGTATGTGAGATATTTTGATACAGGCACAAAATGTCTGATAA CCACATCAGAGTAAATGGGGTAAAAATGTTTCATTAAAAAAAAAATCTTG GGATACGTACCAACTTCGCCTTGAGAACGTATACTATAGGGAGAAAATGT AATCTCTAAACACTGAATAATCCTTCAGGCTAGGTTAATTGAGTTTACCC ATGGGTTGAAAACTTAGCTACTGGGTACGATGATTAGTATTTGGGTAACC CATAAACTACAAAACCAACCCCCACCGTTAAGCGATATATCCATGTAACA AACATGTACACATGTACCCCTAAATCGAAAATTTCAAACAATGAAAACTC AATTTAAAAATGAAAATGTAATACATTTTTAACAAATTATAATGTAATGT ATTCGTTTCATTTAAAATTACAGAATTTCATTTCATTTTTAAAGGATTTC ATTTGAAAATTAAATTGGAATTTTTGTTTTGAGACAAAGTTTCACCAAGG CTGGAGTACAGTGGCACCATTTTGGCTCACTGCAACCTCTGCCTCCTTGG TTCAACCGATTCTCTTGCCTCAGCCTCTCCAGTAGCTGGGATTACAGACA TCCGCCCCCACACCTGATTAGTTATTTTTAGTAGAGATGGGGTTTCGCCA TATTGGCCAGGCTGGTCCTGAACTCCTGACCTCAGACGATCTGCCCTGCT CCGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCACAGCGCCAGGCCA AAGATTAAATTAGAATTTAATACAAAAACTAATTAACAGCCGGGCAAGGT GGCTTATGCCTGTAATCCCAGTACTTTGGAAGGCCGAGGTGGGCAGATTG CTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAGCCTGGTGAAACCCCATC TCTACTAAAAATGCAAAAAATATCCGGGCATGGTGGTGGGCACCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGT GGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAC AGAGCAAGACTCCGTCTCAAAACAAACAAACAAACAAAAAAAAACAATTA ATTAAAATCATGGTAAACAGAAACTGAGATGTACAGTGACATGTAAAGGT CTCCTTCCTCATCCCATAAAACCCAATTTCTCACCACAAAACCATCCACT CCTTACACCTGTTGCCTTTCAAATACTTTTATTAAAGAACTGGTGGGGAA GGGAAAAGTGTGACAATTCAGAGTAGGAATGAGGATGGGCATTAAAAGAA AGGGACCGAAAGCCCAGGACTGCGCTTCATCTACATGTCAGCATTTCTGC CTGCCTGGCCAGCCTGTCTGCCTGCAAGGCCTTGGCCAGTCTCTCCCTGG CTTTCTTCACCCTCCTGGCCTGTCTCCGGATATCTGCAGGAGTCACCAAT TGGCCAGAGAGGGGCGGTGGGAGCTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	249	0.0040	-3526	c.15 others(11): Show c.1592_*5117del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1475		chr19	TogoVar
C7orf50_chr7_992006_1143247	1036677	TAAAAAAA others(3512): Show TAAAAAAAATCCGATAGGGGAAGATGGCGGCTGCTCCTTTGGAGGAGCGG GATTGAGAGGATCGGGGTGGGGAGACCAAACAAGAGAGACATTTCTGGCT CTGAAGGCGAACGCTTCGCTGGCCATTTAGGAGCTCTGCTCAAAGCCAGA CGGCCAAGCGTGGTGGCTCATGCCTGTAGTCCCATCACTTTGGGAGGCTG AGGCAGGAGTATCTCTTGAGCCTAGGAGATGGAGACCGGCCGGGGCAGCA TGTCGAAACCCTGTCTCTACTAAAAATAAAAAAAATTAGCCAGGCGTGGT GGCATGCGCCTGTAGTCCAAGCTATTCTGGAGGCTGAGGTGAAAGGATTG CTTGAGCCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCA CTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAATTTTTTT TAGCAAACCAGTAATAGAAAGGATTTACTTCAGTCTGATAAAGGGCATCT ACAAAAAATCTGTAGTTATGTCATACTTAATAGTAAAGGAGAAATGCCTC CTCCCTAAAGTTTGGAACAGTACAATAAGGCAAGAAAAAGAAATGAAAAG GCTTTTAGAACAGAAAGGAAGATGCGGAGCCGAAGCTGGACTGTACTGCT GCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCT GCCGAGTGCCTGCCATTGCAGGTGCGCGCCGCCACGCCTGACTGGTTTTG GTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTAAC CGCGAGTGATCCCGCCAACCTCAGCCTCCCGAGGTGCCGGGATTGCAGAC GGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGG CGTGAATCTCGGCTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGC CTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGG GAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAG CCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGG CCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCAC ATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGT GGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGTGCCTCT GCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGC CCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAG AAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCTGTCTGAGAAGTGAGGAG CCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCC CGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAACCCCCCGCC CGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGTCAGCCCCCCCGACC GGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTG GCCAGCCATGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGGGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGG AGATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTAAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCC GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTGTCCGGGAGG GAGGTCGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGCGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT GCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTGTCAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCACTACCCCGTCTGGGAGGTGTGCCC AACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATA GAAAGGCAGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTG TCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACT AAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCC AACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGA TTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCA TGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACAC AAACACTGCGGAAGGCTGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCT TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACC CAGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAA TAAATTTAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(13): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp2 NA18906.hp2 NA20752.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0007 a0001c0001t0010 a0005c0007t0008 a0001c0001t0007 a0001c0001t0010 a0005c0007t0008	a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 others(13): Show a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0007g0146 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0005c0007t0008g0164	16	326	0.0491	-3519	c.130 others(19): Show c.130-30053_130-26535del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
PSMA8_chr18_26128869_26198355	26167841	TGGTATTT others(3510): Show TGGTATTTTTTTTTTTTTTTTTTATTAACAAGTGTAACTCTTTATTAAGA TGGAATTGTTCTTATTAAAGAAATAGATGAAAATGGTTAAGTACAATTAA ATGGCTCCAAAAGTCTTACAATGAAAACAACAGTCCTGCCAGTTGTTCTT TCCAGAGGCAAATACTTTTCATTCTCTTAGTTTTTCCTTCCGTTAGTTAC CTTCATGGGTTTTTCCAAATTATTGTTTTTTTTTAGTTTTTCAAGTGAAT GCATATATTAATACATAAAATTTTAAAAAGGCTTTTCAGTTTATAATGCA TCCTAACAGTCCCCTGCCCCATCCCTCCTAATTCTCCAGAGCAATGACTT TTAACTCTTTTAGCAATGTCTTCTGTTTTTTTCCTCACATAACTTAGTCA TTTCATTATTATGTATTATATAGTGATTTCTGGATATGACAGATGAGGAT TTAGCTCTTACACCATCACAATCTTCACTTTTCCTCCCATATTGTCCCAG AGTAGTTACCATATTTAGGGGCTAAGCAGTCACATCATTATGACTGTGTA CATACTGCTCCTTGTTGAGAAAAACAGTGTATTATGCTCTTCCTATCCTG TACTTCTTTCTGCCCTAGAATGATTGCCTAACCAACCCTTTCCCCTTGTT TTTTTTTTTTTTTTTTTTTTACTTTTGCTTTATCTTCAATGAACTTCTTT CCAAATGCCCCAAATCTGGCAATAAGTTATTATTTTTAAGAGAAGGGATC TCACTAAGGTGGCCAGGCTGGTCTGGAACTCTTGGGCTCAAGTCGTCCTG CTGCTGAGCCTCCCGAGTAGCTGGGACTACAGGCATGGGCCATTCCACCC AGCTAACCGATTAATATTTTTACTGTTCCTTTTTAAAGCTAGCTCCATAG CTGGAATATTGCCTGTGTTGGATCCTATTTGCTGGATTCATGTCATTCTC TGGTTTGTGTACTCCTTCATTTTGCTGGAGTATTTTCTCCAACAGCTTCC CTAAAAAGGGCACATGGAGGTAACCCCTGAGTCTTTGCTTGTCTAAAAAT GTATTATTTTACCTTCACCCTTGATTATTTGGGTGAATATAGATTTATCA GTTGAAAATAACTTTCTAGAATTATGAAGGCATGGTTCCATTGTTTTCAG ATTCCTTTTCGAGACAAGGTCTCTTCTGTCACCCCGGCTGGAGTGCAGTG GCACAATCACGACTCACTGCAGCCTTGAACTCGTGGGCTCAATTAATTCT TCCATCTCAGCTTCCTGAGTAGATGGGAATACAGGTGTGCGCCACAATGC CCAGCTAATTTCTGTGTTTTTTGTAGAGATGGGGCTTCGCCATGTTGCCC AAGCTGGTCTCAAGTGATCTGCCTGCCTTAGCCTCCCAAAGCGCTGGGAT TACAGGCGTGAGCCACTGTGCCTGGCTAGTTTTTCTTTTATTTTCTCTCT ACTTCATTCATTTCTCAAAGGCATCTGAAACTCCGTGGGCCCAAAACCAA AGTCAAACTCCATCAGAATATCCTGCTACTTATAACTTTAAAATATATCT TAAATCACAATTTCTTACTACATGCAACCCTTTGGTTCAAGCAACCATCA TCCCTCACTTGAACTTATAATTGGTTTTCCTGCTTCTGTATTTTTTTAAA TTGTAAAATACTTCAAATAAACCATGTGTGGCCTTATACTTTTTACTACA TAAAAAGAATGAAGATGTGCCGGGTGTGGTGGCTCAAGCCGGTAATCCCA GCACTTTGGGAGGCTGAGGTGGGTGAATCGCTTGCGGTCACGAGTTCGAG ACTAGCCTGACCAACATGGCGAAACCCCATCTCTACCAAAAATACAAAAT ACAAAAATTAGCCGGGCGTGGTGGCGCGCACCCGGTCCCAGCTACTTGGG AGCCTGAGGCAGGAGAATCGCTTGAATCTGGGAAGGCGGAGGTTGCAGTA AGCCGAGGTCACACCATTGCATGCTAGCCTGGGCAACAAGAGCGAAACGC TGTCTAAAAAAAAAAGAACTTACATACTTAAACATCGAATTGCTTTAAGT GTTTGGCATTCACTGTTCCCGTGCATGCCAGCAGCTTCTTACTGCAAACA CCTGAGACTTGCTATAGAGCAGCTGGACTATGTTCCGCCCACACACAGGA CAGGGAGCTGACAACCAAGGAGGGGGGCGGGATCAATACTCCAGCTTTCC CCCCTCCATTTCCCTGTATCTCAGCAGTATGGAGCTTGTTATCAATGAGA ACCTGCTCGCTGACTTTAAATTGCTTTTCTTACCTTCTCAGTTCAGTTTC TCCGTACCTCAATTGATGATTTCTGGTATGACCTAGCAAATACACTGCTT TCACTGAAATTTCAGTCTTGCAATCTGCTTTGGGTTCCCCAATCTAAGAC AGAAACATACTCATTTTCCCATCACTGGACTTCCAGGTTGTTTTCAATTT TCCACTGTTACAAACAAGGTGGCAACATTTATCTACAAACCTCTGGATAT ACACGTAGGAATCTTTTGGTATTTCCACTAGTGAAACTGCTCAGTTGAAG GGTATGTGGATCTTCATCTTTAATAAATATTACCAACATGTGAAAAGCCC GACAATGTCAAGGACTGGCAAGAGTGCCACATGTGATGGGTGTGGAATGG CAGCTCACTATAGCAGGTGCTGGGGACTCAGTTGGGGTCTTGGAGAAGCA CTTAGTTATAGCAAGAATGTCTCATAAATGGTATCTGATAGAGACAAGAG TAGTGGGGAATAAAAACTAGTTGCTTAGAAATAATTATAGATCTAAAGTC AACAAAAAACCTTTTCTAATGTAAAAATACATACTTTTTTCAGAGGGAGG GGGAACAACTTAAACTAGAAAACACCTTCATATTAATCATTCTTCTCATA TACTTCAAATTTGTACTTAATGCCTTTCTCCTCCTGGACATCAGAGAGAA CACCTGGGTATTCTGGCAGAAGTTTATATTTCTCCAAATCAATTTCTGGA AAAAACGTGTCACTTTCAAAGTCTTGCATGATCCTTGTCACAAATAGTTT AAGATGGCCTGGGTGATTCATGGCTTCCTTATAAACAGAACTGCCACCAA CTATCCAGACCATGTCTACTTTATTTGCTAATTCTGGTTGTTCAGTAAGT TTTAAGGCATCATCTAGACTTCTGGAAAGAAAATGAGCTCCTTGTGGAGG TTCCTTGAGTTCTCTGCTGAGAACTAAATTAATTCTACCCTTTAAAGGTC GATTCTTCTCAGGAATGGAGAACCAGGTCTTCTTACCCATAATCACCAGA TTCTGTTTACCTTCTACTGAAGAGGTTGTGGTCATTCTCTGGAAATATCT GAATTCATTCCTGAGCGGTGGCCAGGGCAGGTCCCCGTTCTTGCCGATGC CCATGTTCTGGGACACAGCGACGATGCAGTTTAGCGAACCAACCATGACA GCAGCGGGAGGACCTCCGAGCCCGCTCGTTACAGCAGAACGCGCGGTCAA GTTTGGCGCGAAATTGTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00673.hp2 others(140): Show HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0003g0003 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0005g0130 a0001c0001t0006g0085	143	268	0.5336	-3517	c.477 others(17): Show c.477+9606_478-7464del	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
FARS2_chr6_5256513_5776583	5606341	GTCACCAT others(3507): Show GTCACCATTGCTAATAGGCGGCAGGGAAGTTGTCAGAGTGCTTGGGGAAG ACAAACATGAAGCTAGAATTTTGTGTCCTACCAAATTATTAAAGTGTGAG GGGTTTCAGACATGTAAATACCGAGAGAGTTTGCCTCCTGTGGACTTTCA CTGCCAAAAAAAACTGTTGAATGATACTTATCTGAGAGAGCAGAAGTGAA AAAGAAGGAAAGGTGTTGGGACTAGGAAAGGCCTAAGATTTTACCTCACT TGCAGGTTAACAAGGTACCGCTGCACTTTCATAGATGCAGGCAGAAAGGC AAGAGACTCCTGCCTCAAAGACCAAGGACTTTGTTACTCAGCACAGAGGT GGCGTGAGTTCTCTTAGCATTGGCTCTTCTAGTCCCCCAGTTCAATAGCG GGGAGGTGGAGCAGCTCTGGATGCTGTACACACACTGGGCTGGAGCACAG CTGAAAACCCTCAAGCTTGGGCACCTTCCAGTATTTCATTTGTCCATTTG CGTGTGTTTGTTTTTAGCCCAGTCTTTTAAAGGGGCTATTAGTAAACCTG CCCAGTCTTTGTCCCTGAGGAAGACATTATGTTTATCATTCTGGTGAGGG AACAAACCAGCTTTCTGCTCCAGAGGGAGAGACTAACCATCTTCCAGTGC TATTTGGTGTACAAGCCACCACAAGTTTTATGAAAACTCCATAGAGCACT GTCCCCCAACAAAGAGGTGGAAAACAAGAAAAAATACGGAATTTAAAAAT ATTTTTAACTTAAAATTAGCTGTTGAGTTAATTTATTGTTTTACCTGTGA TTTTGTTTAGAAGATGAAACTCTAGACAAGAATAACCAGGAAGGAGGGCT GCTAGGGAAAATGAAGCTTCCTGTCTTTTTTAGTAGCTGAATAGAGACAC TAAATAACTTTGTGCTTGGAACAATTTATTAAAGAATAATATGTATGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTCTTAAA GAAGAGAAATACAATTTACTCCTTACACCAGGGGGAAAATATTAGAATAT TTTGAAAATCAAGCAATCCAATAGGCACAGAAAAGGAGAAAATTTATGAA AAGAGGAAGACTGGTTAGCAGAAAACACAAATGAAGATGGTATAAATAAA ATATATTGATAATCACAGTGAATATAAATAGATTAAAGTGACCTGTTAAA AATCTGAAGCCATTCAGTCATCATGACCTTGTTCCACCATCTCAAGCAGG AAGGAAGGGTGGAAAAGCTGTCCCCACTGAGGTCTGATGTTTTAGTCTCC ACAGAATTGCCACAACATCTCATTGGTGAAACTGAGGTCATGCCCCCTCC TCGCCTGGCCAATGGTGTAAATAACCATGACGCGTTTATACTAGTCTTGA TTAACAAGTCATGACTTTCATTCCCTGGGACTGAGGAGGGACCTTTCCCA GAGATCAAGTGGGAGATTTTATTATCTTTTTATTAGAAAGTGATAGATCA AGAAAATCAGCAGATAAAAGAAAGGATATAGAAGATTAGAATAATACAAT AAAGAATTGTGACCACACCAGAATGAGAGGTCATATACCTTTCAAACACC CCAAGAACATTGATTATATTGCTACTTTTTACTTGGGCATGTATTTTTTT TTTTTTTTTAGTTTCCAAATATATGAATTTTATGACTTTTAACAAATATC TTTTTATCGTGAACTTCAAATTTAATTGCATTGATGTCGGAAAACGTAGT ATTACTCATTCTTGGAACTTTGTTGTAACTTGCTTTTTAACCTCAAATAT AAGGATATCGTTTCAAGACCATTGGAAATAGCTGCAGTGTGATAAATGTA AGGGTAAGAAGAGAGTGTTACAGGAGTGTTTACCATCAGTTTGCGCATGT CCAAGTCATATGCCTGGTAGGAAAACTTTAAATTTGGGATCACACATTTT TGCCTATGCCATTTCTATTCATTAGGTTCATAGCTGTTTCTTGTTTACTG CCTTGGTTAGACCTGTGATGAGACAGAGCACTGCTGATGGTGGGTACCTA GTCATCAGTTTAAGTTTTCTGTTTTGAGTGAAATATCCATTTAATCAAAG TTTCCAAGTTCATTCTTACTAAATAGTTCAAAATATTCACCTATGACTTC TAAAGTCTCTACTGTATCTGTAGTTTTTTTTGAGTATTAAATCGTTTATT GATTACACATGATAATGAATGATACACAAACTTCATTTCCATCTATAATT TTATCTGGTTCCAGATTCAATTTAGATATATTGCATAGGATGGGCCAACA ATCATTTTTATAACCAATAATTCCATGATTTTGCTTGGGTAATCCCTTTT AATGGTGAACTTCAGATCGCAACAGTAACCATCAGTTCACCTACACCAAG GTTTCTGAAGACAATGGCTTCTCCACCCAAGCAGGTTGTATATAAACTCC AAAAAGAACCTGGCATCACCCTGAAGGAATTCTAACTTCACACTCTTGGG GAAAATTTACCAAGATGGCTTCAGAGCAGACTAACTTTATACAGCACATT AAAAAAAAAAGACATTTATTCAGTATCACAATCAGACTATTACATTTAGC AATCAACAGCATGGGTGCCAAAAAAAAAAATCTGTATTAAAACCCTTTGT TGGAATGCTTTACACTTTCCACAGAACAGAAACTAAAATAACCTGTTGTA CAGTTAGTCACAAATACAGTCCTCAGTTTTTTGCCCATACACATGAGTAT TTGTCTAAAATATGTCTTCTTTGTAGCAGCTAGGCCCTGCCACCACTGTG CTTGGCTGAGTTCACAAATCCGTTGTAACCTGTAGCTTCCCTGACACTTC TCTGGCTCTCCTCTCCGGCTAAGCTTTGTTTCCTAATTAAAATCTTCTGC CACTGCCTTAGCTACTGCTGCTACTGGAACTGCCCTAGCCACCTTGGTTT CATGGTTTGGCAAAGTATTGGCCTCTACCACCATAGGGACCAGAGCTTCT GCCTCCAAAGTTTCCTCCCTTCATGGGTCCAAAATTTGAAGACTGATTGT TGTAATTGCCAAAATCATTGTAGCTTCCACCACCTCCAAAATAGCTTCCA TCATTACCAAATCCATTATAGCCATCCGCCCTGCCACCATATCCACCACC ATCATGGCTGCCACCAAAGCCACCATGACCACTGAAGTTTCCTCCATGAC CAAAGTTGTCATTCCCACTGAAACCACCTCCACGACCACCACCAAAGTTT CCAGAACCACTTCACCTCTTTGGCTGAAAGAAGCACTCACCATCTCTTGC TTTGACAGGGCTTTCCTAACTTCACAGTTGTGGCCATTCACAGGATGGCA TTTCTGAATGACAGTCTTATCCACGGAGTCATGGTCGTCAAAAGTTACAA AGGCAAAGCCCCTTTTCTTGCCACTGCCTCGGTCAGTCATGATTTCAGTC ACTTCAGTTTTTCCAAACTGTTCAAAATAATCTCTTCAAAATAATCTCTT AGGTGATGTTCTTCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04115.hp2 HG03704.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0002c0002t0001g0047 a0001c0001t0001g0024 a0002c0002t0001g0047	2	170	0.0118	-3514	c.106 others(19): Show c.1066-6827_1066-3314del	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6			chr6	TogoVar
ZMYM4_chr1_35263709_35427058	35373636	ACCCACCT others(3507): Show ACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTGCACGGCTAATTTTTTATATGTTTAGTAGAGGCAGAGTTTC ACTGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTTGTGATCCACCCGC CTCAATCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCAGC CCAATGATCCTAACTTCTAAAAAAGCTATACTTACTACTTTATAGTTATA ACTTATGTAGTAAAATTATTTAGTAAAAAGAGACTTTATACTGCTTGAAT TGTAAAATGTACTTTTAAAAATGAGTACTTAGGTATATATCCTGTCTCTA ATTTCTGTATTCCAGTATGTTCATCATGGGATTCTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTG CAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCGGGGTTCAAGTG ATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCAC TATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCAT GTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGATGACCCACCCGCCTT GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCACT CATCATGGGATTGTAAGACTTAAATCAGTTTGAAGATTTTAATTTTTATA GTTTTTTTTCTGTTTATTTTGCCATGAAATCATTCACATAATAACTTCAT GTTTCTTTATTTAATTCTTACTCTAGGGATCAACAGTCTTTAAAATTTCA GTGATATTTATCCTTTTATAATCATAGCTATAGGCTGGGCATGGTGGCAT GCACTTGTAGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGA GCTCAGGAGTCTGAGACTCAGCCTGGGCAACATAGTGAGACCTGGTCCCC CCCAGCTCCTAAAAAAAGTCAGCCACATCTCCGTCTCAAAAAAAAAAAAA AGTCAGTCATAGATTTTTTTTTTTAAAGATTTATCAGTTATTTTCAAAAT GGCTATGGAAAACACGTAAGTTTTAAAATATGCCCTCTTTCTCGTTTTAA AAAATTATTACTATTGTCCATACATGTTACTCTTTTCATCTAGATTTATC ATGTTTCTTTGGCCTCCAGTCTCTGGTGTTTGCCTAAGCTTTATTAGAGA CAGGTCATTTCTACCTATGTGTCATTTTATCTATGTCTTGATCTTATGTA ATTCAATTGCTCTTTAAGATTATGTTCTCTTCTCATGTTTGGTTTATCCA TTATCCAAATTTTCCATTTCTTTAACCTGTTATCCCTTGACTCTTTACAG TTCTACCTTTTTATTCACTTAGTCTTTTACCCTTTTTTTATTCGTTCACC CCTTTTTGTTGTTTCAGGTACTCCTTACTTATCTCCTTAGCCTTTTCTTC TTCATCTTCTTTCTTACTTTTCTCCTACTTCTCATTTTACATAATACTTA CTTTTTGCTTCAGTCTTCAACCATTGTCAATCTTGTTTTTCCTTATATTC CATTTTACTTTCTGAACTACTCTTTAATCTCCTGTTCAACACTACCTTTC CTTCTTTTTTATCCCCTCTTATTTACACGGTGATTACAACAGTTTGGTAT AGTCTGATTTATCTGATTGTAAAATTGATGAGTTGGATGTACCAAAAATA TAAGGAAGCTAAATTCAAAGAAGGTAAAAGATTTGCTTGTGTCACCTAGC TGGTTAATTTTGGCATATGCATTGTTTCTCTACATAGTCTATGTAGTCAA ACAGGTTTCATTTAGAAATCATTCCCCATAAGAAGGGTTTCAATTTGATT TGAACAGGCAGAGATGGAAAAAATTTCCTCTCTGATAACTACTGCTACTG TTGTATACCAGTAGAAATATAACAGCAGCACTTAGGTTAGAAGAAGCTCA TTAGCTATTCAGAATAAATTTCATTTTTCTTAATTTTTGGTAATCATATC TCAGCCTGTTGAATTTAACTTAAACTCTGAAAGAATTTTGGTTGCCATTT AATTTTTAGGTTTCCTTAATGATAGGGACCTAATAATTTGTTTTAAAAAA TTTGTCTTGGCTGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTAG GAAGCCAACATTGGAGGATTGCATGAGCCCAGGATTTCGAGACCAGCCTG GGCAACACAGTGAAACCTCATCTCTACAAAAAGTTAAAAAATTAACCAAC TGTGGTGCCACATGCCTGTAATCCCAGCTGCTTGGGAGGATGAGGTGAGA GGATTTCTTGAGTCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACACT CCTGCTCTTCAGCCTAGGTGACACAGCAGGACACTATCTTTGAAAAAAAA AAAAAATCTCATATTTTGCAGAGAAGAGGTAATTTGGAGGATAATTTTGT TAATACTGTTAGATCAGATTCTTGTTATAATGATATTCAAAGAAGTAACA CCCAGATTGTCTGTACCATTTCTGAATTTTCACTAACTTGAATGAGATTG TTTCTTCTCATTCTGTCATAAGATATAATCCACTACCACAATAAGATGTA ATCTAATTGGACTCTAAGCATAGTGAGAGCAGTGAAAAAATACCTAATTT TATACTTCCATTTCCTTGATCCATGCTGCTCCCAATTCTTATCTCCTTAA CTTTCTGGAAAACTCCTATTTAAGGTCCAGCTAAAATATCACCCTTTGGG TTGCATTTCATGTTACATGTAGTCTGAAATAATTGTTTCTTCATTTATAT TTTTATGGCACGTTATTCGTGTCTTCTCCAAAAATTATTTATACTTCTTT TTTTTTTGAGACGGAGTCTCACTTTGTTGCCAGGCTGGAATGCAGTGGCG TGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGTGATTCTCCT GCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCACACGCCACCATGCCCA GCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTGGCCA GGATGGTCTTGATCTCTTGACCTCAGGTGATCTGCCCACCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCGGCCTATAGTATTT TAAGAATGCTTCTGTTACAGTATTTTATAAAATATTTGTCTATTTGTCAC AATAACTCTGAGCTCCTTAAGTACATACGTCTCTTTTTTGAGATGGAGTC TTGCCCTGTTGCCCAGGCTGAAGTACAGTGGTGCGATCTGGGCTCACTGC AACTTCCGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCTTCCCGAGT AGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTA TAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAAGTGATCTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	298	0.0034	-3514	c.118 others(19): Show c.1181+3045_1182-4074del	ZMYM4	ENSG00000146463.12	transcript	ENST00000314607.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPC6_chr11_101446564_101589007	101509445	TTGTATCT others(3506): Show TTGTATCTCAATTTTTAATCTGGTTTACAAAATTTTATTTTTTCATCCAA TACTAAGTTTACATTGAGCTAAATAGAATGTCTGAGTTGTGACATCTTTT ATTCTAAGATTTTAAAATAACAATCTATGACTTTCCTGCCCATTTATTTG AAAAATGACAAGTTCTATCTTGGCAAGCCACTAATCATAATGATGTATCT TATTTCCTTCTAAATTACTGTGGCTTTTGTACCTATAACTTCTTGAAGGA ACAGCAAAGATATTTCCGTAGAATTTTTTTTTTCAGTTTTAAAGCATCTT CTGTCTTAGTTGTTGTGACCACACATATTAATCATATGCAATGATATAAT TTTTAGATACATTTTTATAAAAAGGCCTAGATTATCATAATCTGTTTAGC ACTCTGTCAACTATATATGAGTCTGTGACAGAATTACAACTTGGTCATTC TGTATCTGAAAAGTCAGAATGTATCTGATACATTTTTGTTTGTTTTTGAT TACTTTAGGAATATTACAACAGCAGGCACAATGAATTTTTATTGTTTTAG GCATATTACAAATGCAGGCCCAATGGATTCAGCACCCCTTGCATGAGTAG TAAGACACAGTAAAAGCTGCTTGTATGTTGTTGACAGAACAAAACGCATG CTTTGCTGCTCTCCTTATCTTTCTTAACTGCAGCCTGGAGAAGCAATAAA AGATTCTACTTGTATTTTTATGTCACAAGTGGTGTTGCTTACTCCCTGCC TCTCCTATGCAAAAGCAAAATGTGTAAAACAACTTTTTAAGTAACAGATA TTTGAAAGCAATTCAGGAAAGATACTAGATGTTACTAGATTATATTACAA ACCTCTCTGCAAATGGTTTTTATAAAACTATGTTGTAGAATTTTACATTA ATAGCAAATGAAACCTAGCAAAATCATCTGTTAAAAAGAGGAACAACTCA GCCCATAGCTCCATAGCACTACTTCAACAAAAGACATTTTCATTTCAGCT AAAGGGCACACTTTTCAAATTCGGCTCTTCTATTTATGAAAATATTTATT AAGAAATTTTCTTCACCCATTTAGCCACATTTAGCATGGTTAAAAGATTA GTAACCTACATTTTCATGTCTGTATTTTTACAAGGTGTTTATCACAACAT ATAAATACTGGTTCTAAGAAAGAGTAATTAGCCACCACCCCTATGGCACT CAAATGTAGATTAGGTCATGAAAACCATGTTTTTACATACCTCATTTTCC TGGTCCTTTTAGTATTTGTTGCCCCAGATAGTGAGAGATGGAATAATCCA TCTCTATTGAAAATGCCAGCAATGCAAATTAGCTTCTGAGTAGAGTGGAT TGCATGCTAGAGTCCACAGCATGTGTAGTAATTCTCTCTACTTCCTGTTC AACTATGATACACTTTTATAACATGGAACTGCTTTTATACAAACTAAGCT CCATATTAAGTTCTTAGCTTAACTTTGACTTTGTGCTTTAAAAATCCTTA CAAATATTTTAAAGCGCAATTCTATTACAGCAGAAGTTCTAAAATTGTAA ATGGAATGTAACTATTCCAGGCAGTGTAGTCAGCCGTAAGCGTAATGTAG ATTCATCCTAGGAAAGTAGAAATAAAAGAAATTCCAGAATTTGCATTTTA TTACATGCACAATTATCAATGGGAATAATTAGACTCAGATATTTAGAGAT TAACATTATACACAACTAGCAAGTTTGCAAACCACTTTAGGGAGATGAAT GAAAGAAGTCATTTGTTCTCATTTTACAACACTGACACTGTTTTTGCCCT GACTACTTAATCTCTGGGCACATACCCTATGCTCTTCCTCTGGGGTTGAG GAAGCAATAAACAATTAAAGTGGTTTTCCTTAGTCCTATGAGAGCAATGA TGATTTTGCCTTATTCACACTGAATTCACCCCTCTTTGCAGAGGGACACA TTGTAAACTCTCAGTACATAACTGGAATACATTAATCCCTCCCGTTAAAG GAATAAAGTTTAGAGCTTGTTTGTTCCCTATTAACCTGACTGCAAACGAC TACAATGTACAACCCTACACAGAAAAAAAGGAACAAAATATAAAGGTTGA GCCACAGTGTGTTCTAGTGTAAATATAATATTTTATATTCATTTCAAATA AGTAGTGAGCTCAACAGGGGACAAAGGAAGTTGAAAGCCGTGTTTTTAAT GGCATCCTTGTGACTTGTTCATGATCCAGAAGCAGAGATTTTCTTGACTT TAAAGATGGAACTAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGC ACTCTGGGAGGCCTAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAT CGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAT TAGCCAGGCATGGTGGTGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTG AGGCGAGAGAATAGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAG ATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAA AAAACAAAACAAATAAAAATAAAAATAAAGGCAAAACTAATATTTTCTCA CCCTGTTCTCTCTCCCTCTTGTTTAGAGGGTGAGAGAGTGAGCACCCATC TTCACAGTGAACTCCCAAATCCCTTGAACTTCCAGATAGTCTTCTAGATA GCAATTCTTCATTTTGATTCAATTAGTTTCAATTCTCCTCACGAACTCTT CTCATTTCTTCAAATACTAACTTTCTGTTTGATCAGTCACACTACATCAC ACCCTGCCTTAGTATTCTATGAATGAAATGGTAAGAGCCTGAGCTACTTG TCACTTTCAGTTGGGAGCCAGCAAAAGTGTGACTGAAAAATCTCAGGTGC ATGTAACAAATTTTTGGTCATCATTTCATTTGTATCATCATTTCATTTGT ATCATCAATTGACATCTTGTTTGTGTAAATTAGAACTCAAACTGTGTGAG AGAATGAAATTGTGAGTAAATAACGGAAGTTATAGGAACTTGCCTTTTTA TAAAACAACATCTGACATGTCATTGTTCCCTTTTAGTTTCTCCTTGGTGG TTTAATTTATTTCATGTGTCATGTCTTCCTACTTTGAAATGCTCTTTGGA AGAGTTCTGGGGCCAGACATTTATGGTGAGAATAATTAAGGACAAGTTGA GGGAAACTGAGAACTGAGTCCTTGGGGATCTGAACTTGAGAAAACTTTGG GGAACTTCGCAAAATATTTGGAAGAACAAAGCTTTAAGAACAAAATAGAG TACTCTTGGGAATATTAAAAAGTTTCTTTGTAATACCAGCAAACTATATC CAAATTATCTCATCAAAGAAGAGGTTTAAATTCTTTGCTTCTATTACCAA TGACTGCCATAATCATGTGTATTACACAAGCACATTTTCCAATTCCTCTG CATAAGATAGATTCTGGGGAGGAAAAAACACACTTCAATTATAAGACAAT CTGAAAAAACTTAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0002 a0001c0003t0012g0002	2	252	0.0079	-3513	c.171 others(17): Show c.171-8160_171-4648del	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
PHLDB1_chr11_118602615_118663028	118617382	CCACTGTC others(3502): Show CCACTGTCTCCTTCTCTCCTCTTCATCCTCCTTAAGGCCTTTCAATGTCA CTTCCTTCACAGCTGATCCAGGAGACCTGACATTTCCCCCGTCTTTTTTT TTGATACGGAGTCTCACGCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAT CTCGGCTCACTACAACCTCCACCTCCTAGGCTCAAGCGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCGCCCGGCTAAT TTTTTTTTTTTGACCCCAGTCTTTTCTTCCTGCCCTCGGGTAGGGGGCAG GGCATGGACAATTGACTTCAGGGAGGCAGGTCCACCAGCAGCAGTACGTA GGCCCTTGCCTTCTCCAGGGATTCAAGGTCTCTGACTTTGGATGAGAGGA GGAACCCCCAAAAATTGGGGCTTGGCTATGATGGCAGTGGGTTCCTAACA GTCCTGTTCAGTCTCAGAGAGAGCATCTTCTCTAAGATTTGGGAGCATGG AGATGAGACAATAGAGCAGCAAGGAGAGGCAGGGCAAAGTTCAAAGAAGG CCCAGCACTTACCACCCCCGCCCCAAACCCATCACATTCATCGGTAAGAA CATTGTTCCCCTGCATGTTGTGAGCAGGGTATGCTTCTGTTGTCCAGTCT TTCCAATGCATCATTTAGCTCCCTGAGAAGGGGAGAGCCTAGGGCTAAGA TGGAATTCTGAAGCATTTCCTGTGGCCCCAGTGACCCTTCCCGACTCTTC TCCAGCCAGAGGCCTACCCAGCCAAGTATGTACCCTCCCACTCTCTTCTG ACCCTAAACCCCTTCCCATTTTCCCTCCCCAACCCCCATAGCCTTCTTGT CTGGGCTCGCCTGTCTCAGAAGCTTGGCAGCCTGTGGAGGGGTAGGCAGA GGCACAAAGGAATGGGTGTTCTTCTCCCCAGTCCTCCCCCTCCCCTGGGC TCCAGGAGCTGAGGGTTTCCTTGTCTCATCTCTGGAGCAAGGCACCAAGC CCAGCCCTGCCTGGCCCCACTCCGGACATTCTTGGGAGTGTGTTTCCCTG GAAACTGGGTGGCTCGGGGGTGCATGTGCTATCTCTGTGTGTCTGTGTAA CCGGAGTGTGTTTATGTAGCTCCGGATGTGTTTGTGACTCTGGGCTTACG AATCCTGTGTTTGTGTCTTTCCTTGTGTTTATCGATCAGTGTGTTCAAGT GGGCGGCAGGGGTGAACTCAGGACTGATGGTACCAAAATGTCTGTGTGTG TACTCCTATGTGTATATGAGACCCCACTAGTCATATGCCTATCTGTGAGC ATATATACAAGACGATCATTTTCCCTACCTTGTTCCCCTAATCTGGCCTT GTAGACGGGACCCTCCTCTTTCAAAAACAAGGGCTACTCTGGGAATAACA AGGAGTGTGCTTTGGCCTTAGATGCATCATTCTGGGCACTGTGCCCAGCC ATAGGCAACTTGGAGAGACACACTTCATGACAAGCAGAGATGGCAGTGAC AGGCTCTTCCAGCAGGAATATGCCTGGGCCAGGGGAAAGGGGAGGCAGGC AGAAAACAGATGCCAACCTTTAGCACAGAGCTATGAACATAGGAGCATGA AGTGAGGGAGCCAGGAAGGTCCTGATTCCACCCCCTGTACCCAGGCATCT CGGCACATCCCACATTGCCCTCTTCTCTACAGAGCAAGGGGTGGAGCTGG GAATAGGACCAAGGGAATGAGGAGGAATCTCAATCTGGGTCTAGGCTGCC CCACCCTGGGACCACAGCGCCAGACCACATGAAAGATCTGGGAGGGAACC AAGCAGGGGAGGACCCAGAAAGCCACCAGCTCAGGGCCCAGGCTGTCTAG ACAGTAGGTCCCCATCCACTCCTAGCATTTCCTCCGAGCCCTGGTCTCCA GTCTCCTTCATTCCCTAAGCCTCTCACTGGTGGGTAGGGGCTTGTGTGAG GGCCAGCAGAGGAGTGTGGCTGGGGAGCCGGATCTCTGGGTTATCCAGCT GCCTCTCTCTGGGATCTAGGACATTCAGCCTCTTTTTTTTCCCACCCAGT TATTCCATCTGTAAATTGGGAGTGAAGCCTTCAACCTTTTTCTGTTATGA GACTGATAACGATCTTGACTAATAAAGCTCAAAAGAAGGAGGGCAGAGCA AGGCTCCCAGCTTCCCACTTCTTTGTGTCTGCCTCCTGCCCTATTTCTCA TTGGCGGGCATCCTCTGTGTCTGCCTAGGTCTATCCAGCTGGCCCTCACA GTTTCCAGACCGATGAATCACTCTTCCTGAGGAGATTTTTTTTAAAGCCT CCCTTCATTTTGCATTTGACCCTATATGGTTCTTCCTTTTTCCTCAGAAG GGAATAAGATACGTGTGCACATGTGAGCGTGTGCATGTGTATGCATATAG TTGGCAGCATGGGTGAGTGGGCTAGTGGGCTGTTTAGCAAGAATGGAAAA CTTGCCTGATTATTCATCTAAGAGGTTGATTTTATTTCAGAGTTTCTCCA GGGACTAAGTGAAAGGAAAGCTATGCCTGGGTGAGTGTGTAACTAAAAGG AGTTGTCTGGGGGATGTGTGCATGAGAATAAAGGTGTGTGAGAGACAGTG TGTTTAATGAGGGTGTCTGTGTGACTCAGAGCATGCAGAGATGAAGTAGT GTCAGTGTGACTGAGCAAGTGTTGGTGTGTATCTGAGAGACACTGTGTCA GGCTGTGTGAGCTGCTGAGAGCATAAAACATTGTGTCCCGTAAGGCTCTG GTGTGCAGGGGCCAGGTCCCTGGAACAAGAGGAACTCTCTGGGGGACCTG GCTGGATGGTAGGTATTAATACCTGACTGGGCCGGGTGCAGTGGCTCACG CCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGT CGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTA AAAATACAAAATTTGCTGGGTGTGTGGTGGCGCATGCCTGTAGTCCCAGC TATGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCGGAGGTTG CAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAATGA AACTCCATCTCAAAAAAACAGAACAAAACAAAACAAAACACCTGCCTGAC TCAGAATCTCAGCCTGACTTTGCGGGCTCCAGATATCTGTTTCCCAAGTA GGATGGGTACCTTATTGGGGTCGGAGGGCTCTTTGCTGGGTCTAGCACAA CTGGATGTTGTGGCTGGGGTGCGGGCTGGCTCCCAGGGGCCCAGGAAGTG GGCTGGCCGGAAAGGGCAGTGCCTTGGTCCACTCTGGGTCATGAGTTGAG CTATGGGGAGTGGGGCCGGAAGAGGAGGTGTTTAGGGTGGAGACAGGAGG TGGGCTGAGTGCTTGCATTGTACAGAGCACTGCTTTGGCCTGAACTCCCA GCCCAGGGTGACCTTGTTACAGTGGCAGCCTGAGGGCCAGAGCAGGACCC AGTGACCTAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0203 a0001c0003t0003g0203	1	356	0.0028	-3509	c.355 others(17): Show c.355+1173_356-4042del	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIRT4_chr12_120297321_120318249	120307815	ACCATTGC others(3490): Show ACCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCTTCTCAAAAAA CAACCAAGCAAACAAACAAAGAAAAGCACATAATTAATGATAAATGACAA CGCATGATTGTGAAATTGTGTGGTTCTTGATTTATATGCTGTGCATGTTC AAATAAACAGATTTAGTAAAGATTGGAATAATCAGTTGAGAAAGCTTTTT AAAAAAAAAATTTTTTTTTTTAAATAGAGACAGGATCTTGCTGTGTTGCC TAGTCTGGTCTCGAACTCCTAAGCTCAAGCCCTCCTCCTGCCTTGATCTT CCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCAAGAAAG CTTTTTTTTTTTTTTTTTTTTTGAAACACAGTCTTGTTCTTGTTGCCCAG GCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCCGCCTCCTGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGT GCCTGCCACCACCCCCAGCTAATTTTTTGTATTTGTAGTAGAGGTAGGGT TTCATCATGTTGGCCAGGCTGGTCTCGAACTCACTCCTGACCTCGTGATC CGCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACAGC GCCTGCCCCAAGAAAGCTTTTATGGGTACAGGGGGCTTGAGATTGGCTCA GGTTTGTCTAGGCAAGAGCGGGAAACAGGGCTTTCCAAATGAAGGGAAGT TGTAGATCCCAGAGGAGTCTGGCCTGGCCTCTGTAGAGGTTTGGACCTGG GACTTGCAGAAACCAGATTGTCTGGGAAAGTTAGGCCCAAATCATGGTTA CATTTGAAAATCAGGCAGTGCAGTTGGGTCTGCTGTGAGACACCAAAGGG GTTTATTAGTGGTTTCTGAGCAAGCAAGCAACATGATAAAAATAGCATTT GAGGAAGGCTAAACAGGATTAAAAAGAGCAGGTCAGGGAGGTCAGCCTGA AAGACCTAGACTAAGGTGGTATCCAGGGAATTTGAGTTAATGATGCTTAT GGATTCATTAAAACAATTTTTTCCGCCGGGCGTGGTGGCTCATGCCTGTC ATCTCAGCACTTTGGGATGCCGAAGCGGGTGGATAACCTGAGGTCGGGAG TCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCACTACTAAAAGTAC AAGAACAACAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAG GTTGCGGTGAGCCAAGACTGTTGTGCCATTGCCCTCCAGCCTGGGCGACA AGAGTGAAACTCTGTCTCAAAAAAAACTCACAATTTTTTTCATGAAGAAA ATCTGTTCTTTTAATAATGAAAATTTCAAACTTCACAAAAGTAAAGAGAA TTGTATAATGAATTCTCATATACCATCACCCAGATTCCAAGGTTTTATCA AGATTTTGTCATGTCTACTTTATCCATTCTGTCTCTTCTTAAGCATTTTA AAACAATCCAGGACTTCTTGACATTTCACAGGGGCCTTTTTTTCTTTTCT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCTGGAGA GCAGTGGTGAGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAACC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCA CCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCGTG TTGGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTT GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGCTTTC TTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCACCTAGGCTG GAGTACAATGGCATGATCTTGGCTCACTGTAACCTCTACATCCTGGGTTC AAGCAATTCTCCTGTCTCAACCTCCTGAGTAGCTGGAATTACAGGTGTGC ACCACCACACCCGGCTAATTTTTTTGTATTTTTGTAGAGACAGGGTATCA CCATGTTGGCCAGGCGGGTCTCAAACTCCTGACCTCAACTGATCCACCCA TCTTGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGTCACCGTGCCCGG CCTGGCCTTTTTTTCTTTTTTAGACAGGGTCTGGTTCTGACACCCAGGCT AGAGTGCAATGGTGCCATCATAACTCCCTGTAACCTAGAACTCCTGGGTA ATTAGAACTCCAGCTAATTAAAAAATTTTTTTTGGCTAGGCGTGGTGGCT CACGTCTGTAGTCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAA AATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTGCTCGGGAGG CTGAGGCAGGAGAATCGCTTAAGCCCAGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACCCCGTCT CAAAAAACAAAGACAAGCCAAAAAAATTTTTTTTGTAGAGAGAGCGTCTT GCTGTCTACCCAGACTGGTCTGGAACTCCTGAGCTCAAGCGATTCTCTTG CTTTACGCTCCCAAAGTGCTGGGATTACAAGGTGTGAGCCACCATGCCTG GCCACAGGGGTTCTTTTAAGAGAAGAAAATCAACATAATCTGATGGCTGA CTAGAACTAAAAGGAGAAAAATGAGGCTGGTTGTGGTGGCTCACACCTGT AGTCCCAGCACTTTGGAAGACTAAGGCAGGAGGATTGCTTGAGCCTAGGA GTTCGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGGTAAGAG CCACCACGCCTGGCCAAGACCCTGTCTCTTTTTTTTTTTTGAGACGGAGT CTCGCTCGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGGCCGGCTAATTTTTTGTATTT TTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGC GTGAGCCACCACGCCCAGCCTGACCCTGTCTCTTAAAAAAAAAAAAAAAA AAAAAAAAAATAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCATT TTGGGAGGCCAAGGCGGGCAGACCACCTGAGGTCAAGAGTTCGAGACCAG CCTCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGG CGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCAAGATCGCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	380	0.0026	-3497	c.497 others(17): Show c.497+3786_498-1116del	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATA31C2_chr9_88124305_88143475	88137247	GGTTCAAT others(3487): Show GGTTCAATAGTACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACA ATAACCTCAATCTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCC GGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCA GGTGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGC CTGTAATCCCCAGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACT CTGGAAGCAAAGGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCC TGCACAAAAAACAAAATAAATAAAAATAACACACAAACACACACGCACAC ACACAGGGATTTTCAATATGAGGTCCACCATGGACGCCATCAGTCCCTGT TCCTCTGCTCCAGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCT GTCAGGTAGCATTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCG GTGGGAGGCCCTCGGGGGCCCAGCACAGGCCCCATATCACCCCACACAGA AGAGGCTGGGTCCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGG GCTCAGGGCCTGGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGACC TCCCCCGTCTCATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGC CGCTGAGCCCACGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCA CAGATGGACTGAGAGCTTGGGATGGAAATCCCAGTACACGATCTACCCCT ACCAACCCCTGGCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCT CTCCTGAGACTTCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGA ACTAATAATAAAAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGA GAGCTCCTTACCTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACA ACGGAGGTAAGAGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAA ACACCAAGGTGAGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTG TTTAGTGATGAGGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCAT GTGAATAGGCGCATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGG AGACTAGGGACTGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACAT CACAAAGGGCTCCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAG CACAGCCCCTCCCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCT TCCAGATCCCTCCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAG TTTTCTATTCTTTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTATC TGTTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCT GTAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGA ATCTCGTTCGTCCTCAACTCCAGCTTTCCCACACAATGTTTTTGTCTTCT GTGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGC AAATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTT TTTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCGCCTCCCGG GTTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGA TCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACT GCGCCCATCCTTCTATCTCACTTTCAATCAAAGGGACCTACCCACATACA ATTAAGATTTTTTAAAAATTCTATTTATGTACTTATGTAATTTTATTTTA AGTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGAT GGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCT CACGGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTT GTATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGT TCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTC TGGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGATGAAAGTTATTTT ATTTTCTCATTTTCCATCAATATATCCTGTTCAGTGAAATATCGGTTCAT GCCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTG ACTTTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATA CGGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTT TTTATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACAT CCAATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTGTCATGTCTA ATAATTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCA TATTTTTACATTGAGATGTGATCTTTTTTTTTTTTTTTGAGATGGAGTCT TCCTCCATCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTAT TGTCTACCATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAA GAATTCTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCC ATACACTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCA GAGGGAAACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTG CAGTAATCTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTT ACTATTTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAA CAAAACAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCA ATTTTTTAACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGG CAGGGGGACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTT CCATACAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCA	G G	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG01346.hp1 HG02004.hp1 HG01346.hp1 HG02004.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0084 a0005c0006t0003g0085 a0005c0006t0003g0084 a0005c0006t0003g0085	2	446	0.0045	-3494	c.-22 others(14): Show c.-2295_189+1010del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
NEK1_chr4_169387809_169617583	169441694	CTGCTAGT others(3486): Show CTGCTAGTGCCTGTATAAGCTTTCCAGGGGCTTGGGAAAGGGCCCACCCA GCCTGCCAGCACCCACACACATCATCTAGGGTCTAGAGATCAACCAGTCC TGCCCAACATAAACTGCCTGCACATGCACCACACAGGGGCCCAAGTATAG GCCTGCTCTACCTGGCGATGCCCCCAATAGTGCTATGTGTATTGTCCAGA GGTCTGGAGATCTACCCACCTCTGTCCGCCACCACAGACACCCAAACATA CCTTCCAGAGGGCCCTGAGACCCAACCTGCAGCCACTGCCACCATCCACC TGCACTAAAGGCCTGGAGACTAGCCCTCTCAGTTCACCACCACCACTGCT GGTGCCCATGAGTGCTGATGATGGACCCAGGGACTAGCCCTGCCCACCTG GCCCACCACTGCTACTGCTGGCACCCAAGTAAGCCATGTGGAGGCCCAAG GATTACCTGGACCCACTATCACCAGTGCCTGAACACCATCTGGGGGGCCA AGTACCTGCATTCTCAGCATGCTGCCAAGACTGGGGCCTGAGGACTGGCT CAACTGGCTCCCTGTCCACGGTAAATCCTTACCAGAGTCTCCACTAACAA TCATAACCTAAGACACACAGGAATTCACAGATACCACTGACACTGATTAC AGCCAAAGAAATCATATGAAGACTGCACTACTCTGCCCACCCAGAATCAA AGCCAAAACACCCTACTCAACCAACACTATGGATACATATACGGGAAAAA GTCTTTGCCTACGAAAGTCAATCCGTAAAATCGGAAGAAGTGATTATTAC AATAGATGCACAGATATCAATATAAGGACACAAGAAACATGAAAAGTAAG GAAACATGATACCTCCAAAAGAACACGGTAATTCTCCAACAAGATTCCAA CAAAAATAAATCTACAAAATGCCTAAAACAATTCAAAGTAAAATTAAAGC TAAGTGAGGTATAGGAGAACACAGATAAATAATACAAAGAAATCAGAAAA ACAATTCATGGTCTCAATGAGAAATTCAACATAGATATCATTAAAGATAA CCAAACAGGGCCAGATGCTATGACTCACAAATGTAATCCTAGTGTTTTAG AAAAGGAAGGCAGAAGGACCGCTTGCAGCCAGGAGTTGGAGACCAGCCTG GGCAACACAGTGAGATACTGTCTCTACAGGAAATTCTTTAAAAAGTAAGT CAGGTGTGGTGGCATGTGCCTATAGCCATAGCTAGTCTGGAAGATAAGGT GGAAGGATCTCCTGAGTCCAGGATTTGAGGCTGTAGTGAGCTATGATTGC ACCAATGTACTCTAGCCTGGATGGCAGACAGCCTGTCTCTAACCAAGTAA AAATATTTTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTATCTATCTCATAATTTGAGACCAGCCTGGGCAACATGGCAAAACTCT GTCTCTACACAAAATAAACAAAATTAGCCAAGCATGGTGTCAAAAGCCTG TAGTCCCATCTACTTGGGAGGCTGAGATGGGAGGATCCCTTGAACCCAGG AGGTCAAGGCTGCAGTAAGCTGTGATCACAGCACTGCCACTGCACTCCAG CCTGGGTGACAGAGCCCTGTCTCAAAAACAAACAAATTAACTAACAAATA AAACCCCAAACCCCCCCACCCACCACAAAATTCAATGAATTAAATAAAAT TACAACTGAGAGCTTCAACAATAGACTAAACAGAAAAAAGAGTTTCTGAA TGAAAACAGTTCTTTCGAAATAATCCACTCAGAAAATAAAGAAAAGGATA AAAGAAAAAAAAAGAATGGAAGTCTATGTGACATAAGAGAAATTGTAAAG TGCCCAAATATTCAAATTTTGGGTGTTTCAGAAAAAAAAAGAGATGGGCA AGGACATAGAAAATTTCTCTAACGAAATAACAGCTGAAAATTTCCCAAGC CTTGTAAGAGATATAGACATTCAGATACAGGAAACTTAAAGACACAAAAA TATTCAACCCAAAAAGATCTTCCCAAGGCACATTACAATCAGACAGTTAA AAGTCAAAGAGAATTCTAAAAACAGAAAGAAAAGAGCATCAAATTACATA TAAGGGCACCCCCAACAGACTAACAATGGCTTTCTCAGCAGAAAACTTAT AAGATAGGAGAAAACGGGATGATATATTCAAAGTGCTGAGAAAACAAAAA CAAAACCAAAAACAAACCAACAACAAACTGTCAGCCAAGAATACTATACC CACCAAAGCTATCCTTCAAAAATGAAGGAGAAATAAAGTCTTTCCCAAAG AAGCAAAAACTGGGAGAATTCAACAGCAGACTGATCCTATAAGAAATGCT TAAGAGAGCACTACATGTGGAAATAAAAGGACAGTATCTAACACCATGCA AGCACATTAAAGTATAAAACCTGACAGAGCACATTCACAAACAAAAGAGA AAAAGGAGTCAAATGTTATAGAAAATAACCAAACTGCAATGAAACAATAA AAGAGAAAGAAAAGAACAACAAATATACAAAACATCCAAAAACCAATTAA CAAAATGACTAGAGTTAAGTCCTCACCTATCAATAATAACCTCTAATATA AATGAAATAAATTAATCATTTAGAAGATACAGGTTGGCTGAATGGTTAAA AAAAAATGACCAAACTACATGCTGCCTACAATAAACTCATTACATATATA GACTGAAAATGAAGAAACAGAAAAAGATATTCCATGCAAATGGAAACAAA AAAAGAGTGGGAGAAGGCATACACTTATATCAGATAAGACATATTTTAAC CCAAAAGCTGTAAAAAAAGACAAAGAAGGTCATTACATAATGATGAAGGG AAAAATTAAATGAGCAGATCTAACAATTATAAATAGATGTGCACTCAACA GCAGAACCCCTAGATATATAAAGCAACTACAGGGAGAGATAGACTCCAAT ATAATAAGAGTTGTGGACTTCAACGCCCCATGGACAGCACTGGACAGATA ATCTAGACTGAAAATTAACAAAGAAACATTTGATTTAAACTGCACTTTAG ACCAAATGGACGTAACAGACATCTACAGAACACATCCAACAGCAGCAGAA TATACATTCTTCTCATCAGCACATGCAACATTCTCCAGGACAGGCCACAT GGTAGGCTACAAAACAAATCTCAACAAATTAAAACGTAACTACTTCATAT CAAGTACCTTCTCAGACCACAACTGAAGAAAACTAGAAATCAATCACGAG AGGAACTTTGGAAACTGTACATATACATGGAATTTAAGCAACATGCTCCT GAGCAAACATTGAGTCAACGAAGAAATTAAGAAGGAAATAAATGGATTTC ATGAAACAAATGGGGACAGAAACACAACAAACCAAAATCTATGGGAAACA GCAAAAGCAGTGCTGAGAGTTTATAGCAATAAACACCCATATCACAAAAG GGCCAGAAGCTCATGGCTGTAATTTCAATATTTTGGGAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01981.hp1 HG01192.hp2 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0091 a0002c0002t0003g0085 a0002c0002t0003g0091	2	260	0.0077	-3493	c.258 others(19): Show c.2588-6928_2588-3436del	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	27/35			chr4	TogoVar
BRSK2_chr11_1384934_1467689	1429523	GCTGTGCC others(3485): Show GCTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0052 a0002c0017t0052	a0002c0017t0052g0008 a0002c0017t0052g0008	1	360	0.0028	-3492	c.92- others(15): Show c.92-6510_92-3019del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPATA31C2_chr9_88124305_88143475	88135895	AATTTTAT others(3485): Show AATTTTATTTTAAGTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTT TCTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGC ACGCTCTTGGCTCACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCC GGCTAATTTTTTGTATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCA GGATGGTCTTGTTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATT TTAATGTCTCTCTGGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGAT AAAAGTTATTTTATTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAA ATATCGGTTCGTGCCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTG TTGTCGTTGTTGACTTTTGAAAACTTTAAACAATATTCTAGATATGAGCT CCTTGTCAGATATGGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTT TTACCCTGTCTTTATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATT TTGATAACATCCAATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGT TCATGTCTAATAATTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCAT TAAATTTCATATTTTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGA TGGAGTCTTCCTCCATCTTCATATCTGACCACCATTGGTATCTAATTGGT TTTCTTATTGTCTACCATCCCCAGGTGATATCTGATCACTCTGGCATGGC TTCAGCAAGAATTCTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGT AATTTTCCATACACTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATT TCTATTCAGAGGGAAACCTGAATATATGGAAACTGGAGATTACTGCAAGA CCCTATTGCAGTAATCTCTATATCTATTGCAATAATCCCTCTGAATAACG TTTGTCTTACTATTTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATA CAGCTCAACAAAACAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTAT TCTACCCAATTTTTTAACTTTTTACATAGCTACAGAAATCAAGACAGTGT GGTATTGGCAGGGGGACAGACAGTTCAATAAAACAGAATTGAGAACTCAG AAATAGTTCCATACAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATA TCGGTTCAATAGTACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAA CAATAACCTCAATCTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAG CCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGG CAGGTGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGA AACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGC GCCTGTAATCCCCAGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAA CTCTGGAAGCAAAGGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAG CCTGCACAAAAAACAAAATAAATAAAAATAACACACAAACACACACGCAC ACACACAGGGATTTTCAATATGAGGTCCACCATGGACGCCATCAGTCCCT GTTCCTCTGCTCCAGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAG CTGTCAGGTAGCATTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCC CGGTGGGAGGCCCTCGGGGGCCCAGCACAGGCCCCATATCACCCCACACA GAAGAGGCTGGGTCCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCA GGGCTCAGGGCCTGGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGA CCTCCCCCGTCTCATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTG GCCGCTGAGCCCACGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCC CACAGATGGACTGAGAGCTTGGGATGGAAATCCCAGTACACGATCTACCC CTACCAACCCCTGGCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGT CTCTCCTGAGACTTCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTG GAACTAATAATAAAAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACT GAGAGCTCCTTACCTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCA CAACGGAGGTAAGAGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGC AAACACCAAGGTGAGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGG TGTTTAGTGATGAGGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCC ATGTGAATAGGCGCATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGT GGAGACTAGGGACTGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCAC ATCACAAAGGGCTCCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGA AGCACAGCCCCTCCCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGC CTTCCAGATCCCTCCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCC AGTTTTCTATTCTTTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTA TCTGTTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAAT CTGTAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCA GAATCTCGTTCGTCCTCAACTCCAGCTTTCCCACACAATGTTTTTGTCTT CTGTGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTT GCAAATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCT TTTTTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCGCCTCCC GGGTTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAG GCGCCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGT GATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCCATCCTTCTATCTCACTTTCAATCAAAGGGACCTACCCACATA CAATTAAGATTTTTTAAAAATTCTATTTATGTACTTATGTAAT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG01192.hp2 NA19002.hp2 HG01192.hp2 NA19002.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0005 a0005c0006t0003 a0005c0006t0005	a0005c0006t0003g0313 a0005c0006t0005g0312 a0005c0006t0003g0313 a0005c0006t0005g0312	2	446	0.0045	-3492	c.-94 others(13): Show c.-941_190-2227del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88134448	ACAGAGAC others(3483): Show ACAGAGACCTCCCCCGTCTCATGACCAGAGACCTCCCCCGTCTCATGACC GGTCCTGGCCGCTGAGCCCACGGGTTTGATTTTGCCTTCATGCCTCCTGC GCTCCCCCACAGATGGACTGAGAGCTTGGGATGGAAATCCCAGTACACGA TCTACCCCTACCAACCCCTGGCTGCCCTGCCTCTCCCTGGAAGCATGCTG TTCTGGTCTCTCCTGAGACTTCCCATCGCAGAAGTCTCCACTGGATTTGG AAAGGTGGAACTAATAATAAAAAGAAAGAAGAGAATCAAGCTCTGTGGGT CTGGACTGAGAGCTCCTTACCTTTCTCTTCTTAGGCGATGGTGAGGGTGG GTTGTCACAACGGAGGTAAGAGAAGTAGGGGAGTAATAGGAAGAAGAACC CCAGGGCAAACACCAAGGTGAGGAAGATATCCAACACCCATGGTGTGGAG CTGGGGGTGTTTAGTGATGAGGCACTAAGTAATTTTAGAGGAAAGGGAAG ATTCTCCATGTGAATAGGCGCATTGCTTTCTAGCAACTGAGCTCTGGGCA TCCTCGTGGAGACTAGGGACTGGGGCCCAGGCCCGCATCACAGAGCTGGG GCTTCACATCACAAAGGGCTCCTTTGTTGGGGAGGGGCAGTAGGAGGGGG AGGCCGAAGCACAGCCCCTCCCCACCCTCCAAGCCGGGGATCCCTTCACC CTCCCGCCTTCCAGATCCTTCCTTCGCACTAAGTTTTGTCAGTGATAGAA CTCAGCCAGTTTTCTATTCTTTCTCCCTGGAACACAGATATTACCTGGTT CCTTTTATCTATTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTT TGAAAATCTGTAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTT ATTTTCAGAATCTCGTTCGTCCTCAACTCCGGCTTTCCCACACAATGTTT TTGTCTTCTGTGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATT TAGTTTTGCAAATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCA CTTTCCTTTTTTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCT GTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCC GCCTCCCGGGTTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGG ACTACAGGCGCCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGG ACCTTGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCCATCCTTCTATCTCACTTTGAATCAAAGGGACCTAC CCACATACAATTAAGATTTTTTTAAAATTCTATTTATGTACTTATGTAAT TTTATTTTAAGTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCT TTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACG CTCTTGGCTCACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGC TAATTTTTTGTATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGA TGGTCTTGTTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTA ATGTCTCTCTGGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAA AGTTATTTTATTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATA TCGGTTCGTGCCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTG TCGTTGTTGACTTTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCT TGTCAGATATGGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTA CCCTGTCTTTATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTG ATAACATCCAATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCA TGTCTAATAATTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAA ATTTCATATTTTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGG AGTCTTCCTCCATCTTCATATCTGACCACCATTGGTATCTAATTGGTTTT CTTATTGTCTACCATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTC AGCAAGAATTCTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAAT TTTCCATACACTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCT ATTCAGAGGGAAACCTGAATATATGGAAACTGGAGATTACTGCAAGACCC TATTGCAGTAATCTCTATATCTATTGCAATAATCCCTCTGAATAACGTTT GTCTTACTATTTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAG CTCAACAAAACAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCT ACCCAATTTTTTAACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGT ATTGGCAGGGGGACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAA TAGTTCCATACAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCG GTTCAATAGTACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAA TAACCTCAATCTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCG GGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAG GTGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAAC CCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCC TGTAATCCCCAGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTC TGGAAGCAAAGGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCT GCACAAAAAACAAAATAAATAAAAATAACACACAAACACACACGCACACA CACAGGGATTTTCAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTT CCTCTGCTCCAGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTG TCAGGTAGCATTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGG TGGGAGGCCCTCGGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAA GAGGCTGGGTCCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGG CTCAGGGCCTGGCCTCGGACAGAGACCTCCCATCTCATGAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01516.hp1 HG02145.hp2 others(2): Show HG00544.hp1 HG01516.hp1 HG02145.hp2 HG02735.hp2 NA18969.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0068 a0002c0002t0001g0244 a0002c0002t0001g0307 others(1): Show a0002c0002t0001g0068 a0002c0002t0001g0244 a0002c0002t0001g0307 a0004c0005t0001g0306	5	446	0.0112	-3490	c.189 others(15): Show c.189+320_190-780del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135166	TTCCTTCG others(3483): Show TTCCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATT CTTTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTATTGGAGT CGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTGTAGTTGAC TCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAATCTCGTTC GTCCTCAACTCCGGCTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCA GGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGA ATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTTTTTTTATT TTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCTCAGGCTGGAGTG CAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCAGCC ATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCAC CACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGC CTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCATC CTTCTATCTCACTTTGAATCAAAGGGACCTACCCACATACAATTAAGATT TTTTTAAAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGG GTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCA CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACTGCAAC CTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTGTATTTTTG GTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTTCTCCTGAC CTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCTGGGCTTGA TAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTATTTTCTCA TTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTGCCTTTAGC CCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGACTTTTGAA AACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATATGGTTTATC AGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTTATTAACAG GCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCAATTAATAA ATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAATTATTCAT CAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATTTTTACATT GAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCCATCTTCA TATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCTACCATCCC CAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATTCTGTGAGG TCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACACTACCACC CCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGGAAACCTGA ATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTAATCTCTAT ATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTATTTTTTAAC AGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAACAAGTCTG AAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTTTTAACTTT TTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGGGGACAGAC AGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATACAAGTACA ACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGTACAGTGGT TCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAATCTAACCTC ATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAAGTCA AGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTACTAAAAAT ACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCCAGCTACTC AGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAAGGTGGCAC TGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAACAAAATAA ATAAAAATAACACACAAACACACACGCACACACACAGGGATTTTCAATAT GAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCCAGGAACAC CCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCATTCTGCTT GCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCCTCGGGGGC CCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGTCCCGAGCC ACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCTGGCCTCGG ACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGACCAG AGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCACGGGTTTG ATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTGAGAGCTTG GGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTGGCTGCCCT GCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACTTCCCATCG CAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAAAAAGAAAG AAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTACCTTTCTCT TCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAGAGAAGTAG GGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTGAGGAAGAT ATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGAGGCACTAA GTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCGCATTGCTT TCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGACTGGGGCCC AGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCTCCTTTGTT GGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTCCCCACCCT CCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCC	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG02738.hp2 NA18955.hp1 HG02738.hp2 NA18955.hp1	a0005 a0043 a0005 a0043	a0005c0006 a0043c0061 a0005c0006 a0043c0061	a0005c0006t0003 a0043c0061t0003 a0005c0006t0003 a0043c0061t0003	a0005c0006t0003g0077 a0043c0061t0003g0078 a0005c0006t0003g0077 a0043c0061t0003g0078	2	446	0.0045	-3490	c.-21 others(13): Show c.-210_190-1498del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135258	ATTGGAGT others(3483): Show ATTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTG TAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAA TCTCGTTCGTCCTCAACTCCGGCTTTCCCACACAATGTTTTTGTCTTCTG TGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCA AATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTT TTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCTCAGG CTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGG TTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCG CCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGAT CTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTG CGCCCATCCTTCTATCTCACTTTGAATCAAAGGGACCTACCCACATACAA TTAAGATTTTTTTAAAATTCTATTTATGTACTTATGTAATTTTATTTTAA GTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATG GAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTC ACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTG TATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTT CTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCT GGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTA TTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTG CCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGA CTTTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATAT GGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTT ATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCA ATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAA TTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATT TTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTC CATCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCT ACCATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATT CTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACA CTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGG AAACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTA ATCTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTAT TTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAA CAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTT TTAACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGG GGACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATA CAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGT ACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAAT CTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACC TGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCC AGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAA GGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAA CAAAATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATT TTCAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCC AGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCA TTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCC TCGGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGT CCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCT GGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTC ATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCA CGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTG AGAGCTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTG GCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACT TCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAA AAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTAC CTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAG AGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTG AGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGA GGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCG CATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGAC TGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCT CCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTC CCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCT CCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCT TTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTG	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00099.hp2 HG01070.hp1 HG01123.hp2 others(8): Show HG00099.hp2 HG01070.hp1 HG01123.hp2 HG01358.hp2 HG03139.hp2 HG03927.hp2 NA18940.hp1 NA18993.hp1 NA19000.hp2 NA19068.hp1 NA20805.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0069 a0005c0006t0003g0070 a0005c0006t0003g0071 others(5): Show a0005c0006t0003g0069 a0005c0006t0003g0070 a0005c0006t0003g0071 a0005c0006t0003g0314 a0005c0006t0003g0315 a0005c0006t0003g0316 a0005c0006t0003g0317 a0005c0006t0003g0318	11	446	0.0247	-3490	c.-30 others(13): Show c.-302_190-1590del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135870	TAAAATTC others(3483): Show TAAAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTAC ATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACTGCAACCTGT GCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTGTATTTTTGGTAG AGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTTCTCCTGACCTTG TGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCTGGGCTTGATAAT TTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTATTTTCTCATTTT CCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTGCCTTTAGCCCAT TTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGACTTTTGAAAACT TTAAACAATATTCTAGATATGAGCTCCTTGTCAGATATGGTTTATCAGGT GTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTTATTAACAGGCTC TTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCAATTAATAAATTC TTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAATTATTCATCAAG TCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATTTTTACATTGAGA TGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCCATCTTCATATC TGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCTACCATCCCCAGG TGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATTCTGTGAGGTCAG TTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACACTACCACCCCTC CACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGGAAACCTGAATAT ATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTAATCTCTATATCT ATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTATTTTTTAACAGGT GTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAACAAGTCTGAAAT AGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTTTTAACTTTTTAC ATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGGGGACAGACAGTT CAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATACAAGTACAACCA ACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGTACAGTGGTTCTG GAGCAGTTAGATACCATAGACAAAACAATAACCTCAATCTAACCTCATGT CTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAAGTCAAGAG TTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTACTAAAAATACAA AAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCCAGCTACTCAGGA CGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAAGGTGGCACTGAG CCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAACAAAATAAATAA AAATAACACACAAACACACACGCACACACACAGGGATTTTCAATATGAGG TCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCCAGGAACACCCAG GCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCATTCTGCTTGCCA GGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCCTCGGGGGCCCAG CACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGTCCCGAGCCACCT GCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCTGGCCTCGGACAG AGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGACCAGAGAC CTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCACGGGTTTGATTT TGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTGAGAGCTTGGGAT GGAAATCCCAGTACACGATCTACCCCTACCAACCCCTGGCTGCCCTGCCT CTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACTTCCCATCGCAGA AGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAAAAAGAAAGAAGA GAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTACCTTTCTCTTCCT AGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAGAGAAGTAGGGGA GTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTGAGGAAGATATCC AACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGAGGCACTAAGTAA TTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCGCATTGCTTTCTA GCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGACTGGGGCCCAGGC CCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCTCCTTTGTTGGGG AGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTCCCCACCCTCCAA GCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCTCCTTCGCACTAA GTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCTTTCTCCCTGGAA CACAGATATTACCTGGTTCCTTTTATCTGTTGGAGTCGGTGGCTTGAGGT TACCTATTTCATAGCCTTTGAAAATCTGTAGTTGACTCTGAAATTTTGGC TATGTACCAGGGATTTTTATTTTCAGAATCTCGTTCGTCCTCAACTCCAG CTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCAGGGACAAAATGTAA ATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGAATAGTAAGTTTTAA AAAATTATTTCTATCTCACTTTCCTTTTTTTTTATTTTTTTTATTTTTTT GAGACGGAGTCCCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCT TGGCTCACTGCAAACTCCGCCTCCCGGGTTCCAGCCATTCTCCTGTCTCA GCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACCACGCCCTGCT AATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCTGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTCTATCTCACTT TCAATCAAAGGGACCTACCCACATACAATTAAGATTTTTTA	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	NA18945.hp2 NA18951.hp1 NA18953.hp1 others(1): Show NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18982.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0072 a0005c0006t0003g0073 a0005c0006t0003g0074 others(1): Show a0005c0006t0003g0072 a0005c0006t0003g0073 a0005c0006t0003g0074 a0005c0006t0003g0075	4	446	0.0090	-3490	c.-91 others(13): Show c.-914_190-2202del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88136010	TGCAACCT others(3483): Show TGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTGTA TTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTTCT CCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCTGG GCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTATT TTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTGCC TTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGACT TTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATATGG TTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTTAT TAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCAAT TAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAATT ATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATTTT TACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCCA TCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCTAC CATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATTCT GTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACACT ACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGGAA ACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTAAT CTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTATTT TTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAACA AGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTTTT AACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGGGG ACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATACA AGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGTAC AGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAATCT AACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTG AAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTACT AAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCCAG CTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAAGG TGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAACA AAATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATTTT CAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCCAG GAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCATT CTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCCTC GGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGTCC CGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCTGG CCTCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCAT GACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCACG GGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTGAG AGCTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTGGC TGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACTTC CCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAAAA AGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTACCT TTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAGAG AAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTGAG GAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGAGG CACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCGCA TTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGACTG GGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCTCC TTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTCCC CACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCTCC TTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCTTT CTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTGTTGGAGTCGGT GGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTGTAGTTGACTCTG AAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAATCTCGTTCGTCC TCAACTCCAGCTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCAGGGA CAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGAATAG TAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTTTTTTTATTTTTT TTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGTGATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCCAGCCATTC TCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACC ACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCT GCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTC TATCTCACTTTCAATCAAAGGGACCTACCCACATACAATTAAGATTTTTT AAAAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTAC ATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACG	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00423.hp2 HG01106.hp2 HG01928.hp1 others(12): Show HG00423.hp2 HG01106.hp2 HG01928.hp1 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02717.hp2 HG04184.hp2 NA18952.hp2 NA18967.hp1 NA18990.hp1 NA19078.hp1 NA19090.hp2	a0007 a0042 a0007 a0042	a0007c0009 a0007c0014 a0042c0062 a0007c0009 a0007c0014 a0042c0062	a0007c0009t0003 a0007c0009t0006 a0007c0014t0003 others(1): Show a0007c0009t0003 a0007c0009t0006 a0007c0014t0003 a0042c0062t0003	a0007c0009t0003g0002 a0007c0009t0003g0079 a0007c0009t0003g0080 others(5): Show a0007c0009t0003g0002 a0007c0009t0003g0079 a0007c0009t0003g0080 a0007c0009t0006g0002 a0007c0014t0003g0003 a0007c0014t0003g0082 a0007c0014t0003g0083 a0042c0062t0003g0081	15	446	0.0336	-3490	c.-10 others(14): Show c.-1054_189+2247del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135330	TATGTACC others(3482): Show TATGTACCAGGGATTTTTATTTTCAGAATCTCGTTCGTCCTCAACTCCGG CTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCAGGGACAAAATGTAA ATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGAATAGTAAGTTTTAA AAAATTATTTCTATCTCACTTTCCTTTTTTTTTATTTTTTTTATTTTTTT GAGACGGAGTCCCTCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCT TGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCAGCCATTCTCCTGTCTCA GCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACCACGCCCTGCT AATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCTGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTCTATCTCACTT TGAATCAAAGGGACCTACCCACATACAATTAAGATTTTTTTAAAATTCTA TTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTACATGTGCAGGA CCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGG CTGGAGTGCAGTGGCACGCTCTTGGCTCACTGCAACCTGTGCCTCCTGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA TGTGCTACCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACTGGGTT TCACCGTGTTGGCCAGGATGGTCTTGTTCTCCTGACCTTGTGATCCGCCC GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCGG GCCTGCTGTCTTATTTTAATGTCTCTCTGGGCTTGATAATTTAAAAGGAC TGGCATTCCTCTGATAAAAGTTATTTTATTTTCTCATTTTCCATCAATCT ATCCTGTTCAGTGAAATATCGGTTCGTGCCTTTAGCCCATTTTCTAATTG GCTTGTTTTTTCTTGTTGTCGTTGTTGACTTTTGAAAACTTTAAACAATA TTCTAGATATGAGCTCCTTGTCAGATATGGTTTATCAGGTGTGGTTTGCA CTTTTCTTCCAGTTTTTACCCTGTCTTTATTAACAGGCTCTTATGCAGGG CAAAAGTTTTAAATTTTGATAACATCCAATTAATAAATTCTTAGAATTGA TTGTGCTTTTCTGGTTCATGTCTAATAATTATTCATCAAGTCCTAGGACC TGAAGAATTTCTCATTAAATTTCATATTTTTACATTGAGATGTGATCTTT TTTTTTTTTTTGAGATGGAGTCTTCCTCCATCTTCATATCTGACCACCAT TGGTATCTAATTGGTTTTCTTATTGTCTACCATCCCCAGGTGATATCTGA TCACTCTGGCATGGCTTCAGCAAGAATTCTGTGAGGTCAGTTTAGCCAGA TTCCCTCCTATTAGTAATTTTCCATACACTACCACCCCTCCACCCTGCTC TGTGGCTATAAAATTTCTATTCAGAGGGAAACCTGAATATATGGAAACTG GAGATTACTGCAAGACCCTATTGCAGTAATCTCTATATCTATTGCAATAA TCCCTCTGAATAACGTTTGTCTTACTATTTTTTAACAGGTGTCACGAATA GTTTTTTCTATAATACAGCTCAACAAAACAAGTCTGAAATAGAAGAATAA AGTGGGAGGAATTATTCTACCCAATTTTTTAACTTTTTACATAGCTACAG AAATCAAGACAGTGTGGTATTGGCAGGGGGACAGACAGTTCAATAAAACA GAATTGAGAACTCAGAAATAGTTCCATACAAGTACAACCAACTGACTTTT GAAAAAAGTGCAATATCGGTTCAATAGTACAGTGGTTCTGGAGCAGTTAG ATACCATAGACAAAACAATAACCTCAATCTAACCTCATGTCTTTATTAAA AAAAAAAAGGATCAGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCAC TTTGGGAGGCTGAGGCAGGTGGATCACCTGAAGTCAAGAGTTTGAGACCA GCCTGGCCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCA GGCGTGGTGGCGGGCGCCTGTAATCCCCAGCTACTCAGGACGCTAAGACA GGAGAATAGCTTGAACTCTGGAAGCAAAGGTGGCACTGAGCCGGTATCGC TCCATTTCACTGCAGCCTGCACAAAAAACAAAATAAATAAAAATAACACA CAAACACACACGCACACACACAGGGATTTTCAATATGAGGTCCACCATGG ACGCCATCAGTCCCTGTTCCTCTGCTCCAGGAACACCCAGGCTCAGGCCC GCAGGCACCACTGAGCTGTCAGGTAGCATTCTGCTTGCCAGGAGACCAGA GGAGATGCCAGGCCCCGGTGGGAGGCCCTCGGGGGCCCAGCACAGGCCCC ATATCACCCCACACAGAAGAGGCTGGGTCCCGAGCCACCTGCCCCAGGAA GGGACTGATGAGCCAGGGCTCAGGGCCTGGCCTCGGACAGAGACCTCCCA TCTCATGACCAGAGACCTCCCCCGTCTCATGACCAGAGACCTCCCCCGTC TCATGACCGGTCCTGGCCGCTGAGCCCACGGGTTTGATTTTGCCTTCATG CCTCCTGCGCTCCCCCACAGATGGACTGAGAGCTTGGGATGGAAATCCCA GTACACGATCTACCCCTACCAACCCCTGGCTGCCCTGCCTCTCCCTGGAA GCATGCTGTTCTGGTCTCTCCTGAGACTTCCCATCGCAGAAGTCTCCACT GGATTTGGAAAGGTGGAACTAATAATAAAAAGAAAGAAGAGAATCAAGCT CTGTGGGTCTGGACTGAGAGCTCCTTACCTTTCTCTTCCTAGGCGATGGT GAGGGTGGGTTGTCACAACGGAGGTAAGAGAAGTAGGGGAGTAATAGGAA GAAGAACCCCAGGGCAAACACCAAGGTGAGGAAGATATCCAACACCCATG GTGTGGAGCTGGGGGTGTTTAGTGATGAGGCACTAAGTAATTTTAGAGGA AAGGGAAGATTCTCCATGTGAATAGGCGCATTGCTTTCTAGCAACTGAGC TCTGGGCATCCTCGTGGAGACTAGGGACTGGGGCCCAGGCCCGCATCACA GAGCTGGGGCTTCACATCACAAAGGGCTCCTTTGTTGGGGAGGGGCAGTA GGAGGGGGAGGCCGAAGCACAGCCCCTCCCCACCCTCCAAGCCGGGGATC CCTTCACCCTCCCGCCTTCCAGATCCCTCCTTCGCACTAAGTTTTGTCAG TGATAGAACTCAGCCAGTTTTCTATTCTTTCTCCCTGGAACACAGATATT ACCTGGTTCCTTTTATCTGTTGGAGTCGGTGGCTTGAGGTTACCTATTTC ATAGCCTTTGAAAATCTGTAGTTGACTCTGAAATTTTGGC	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00639.hp2 HG00639.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0076 a0005c0006t0003g0076	1	446	0.0022	-3489	c.-37 others(13): Show c.-373_190-1662del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
PSME4_chr2_53859069_53975993	53950570	AGTGGCTC others(3481): Show AGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGA TTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCC CGTCTCTACTAAAAACACAAAATTAGCCAGGCGTGGTGGCACATGCCTGT AATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGCGGAGGTTGCGGTGAGCCAAGAGTGTGCCGTTGCACTCCAGCCTGGGC AACAAGAGAGAAACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAG GTGTCCCAAAACCCAAGAACAACAAATCAGAGTATATTTAAGAATTCAGA AGTAACTGATCCAAATAAATTACTGTAGACTTAAAATCATAAAACCCCTG GAGGAGGGTCATTTTATTAAATATGTAAGTCAACGGGAAAAAGAGCATTA GTATTCCTCGTAAGATCTTTAACACTCCCCCAGTACCTGAGATCAAATAA AACTTACATTTAACTTCTTTTTTTTCCCCCCAAGACACAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGCCTGATCTCAGCTCACCGCAACCTCTG CCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA TTACAGGCGCCCAACACCACGCCCGGCTAATTTTTGTAATTTTAGTAGAG ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGAG ATCCCCCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCA CTGCGCCCAGCACTTACATTTAATTTCTAAAGTTAGGGCATCTAACTGCT TTTTTATCTTCCAGAAATTCTTCAAAATTCTTGGTTCATTAACTCATTTT TATTTTCTCAAGCTGGTCTGAATTTATTCAGCTCTTTTCTGTCATTTCAA GGTATAATCCCATGATCTCACATTAGTACTATGAGACCAGCAAATATAGA GGGAGGAGCAATGAGACGTGAGATCTTGTTTTGGTTCTGCCAGTACAGGT TGAATACCTTTAATCCGAAAATCCGAAACCCTCCAAAATCCAAAACTTTT TGAGCAACAACATGACACTCAAAGGAAATGCTCATGGAGTTTTCCAATTT CTAATTTTTGGATTTGAGATGCTCAATCGGTAAGAACATAATGCAGATAT TATAAAACCTCAAAAAATCCAAAATCCTAAACATTTCTGGTCCCAGAATT TCAAATAAGGGATACTCAAAATAATTATTATGAAAGTTTCTTAAACACCC TAAAATGGTAACGCACGTAGATTAGTGAAGACAAAAGATCCTACACCCAA ATATATTATTATTTTGGGCTGTTGAATAAGCATAATGATAGAGCCTTCTG ATGCCTCCCTCAATTTCACTCTAAATTTAGGAGCAAAAGCTAGAATCATT AAAATGTTATTTTAAATGAACACAAACATCTCCCTAAAAACTGGAACACA TTTTTAAGATAAAGACAGAAGACATCAAAGAAAAATTCCCTGCTTTCAGT GGCTGCTTCAGGCCTTGTCAATATTCCAGATACCAGCCAGGCGTGGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGT GAGATTAGGAGTTCGAGACCACCAGCCTGGCCAATATGGTGAAACTTTGT CTCTACTACACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACGG ATCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGATGAAACCCC TGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGCGCCTC TAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGG AGGCGGAGGTTGCAGCTGAGCCGAGATGGTGCTAGAGTTCTCCAGCCTGG GCAACAGAGAGAGACTCAGTCTCAAACAAACAAACAGAAAGATTCCAGAT GCCCCTGGAGTCATGCATTCATTCTCCCCTGTGGTTAGGATACTTCTGCA GAAAAACTAGAGAAACACTGTACTCTAAGCCAGCAGTCCCCAACCTTTTT GGTACCAGGGAGAATCTCATAAGGAGTACACAACCTAGATCCCTTGCACG GGCAGTTCACAATAGGATATGAGCTCCTATGAGAATCTAACATCATGGCT AATCTGACAGGAGGTGGACCTCAGGCGGTAATGCCCAATCGCCTGTCCAC TGCTCACCTCCTGCTGTGCAGCCCGGTTCCTAACAGGCCACAGACCCATA CCAGTCCCTGAGCTGGGGGTTGGGGGACCCCCTGCTCCAAGCCACTGAAG TAACTTAGCTACAGCCCATTGTTTTCATTGCAGTAGACAGACAACTGTAT ATTTAACATTAGTTAGGGACATAAAATTAACAAAGCTCAAATTTTAATAC TATAAAAAGAGACCAACAGGGGGATTCCTGGAAAGCCTAGGGCTGCTGAC AAATCTAAAGATTCTGGAGGGACTCCTCAGAAAGCTTCTATTTCCCCCAG TTCCTCGCCAACCAGCAAGTGGTTCTTATCTCAGCATTTATCAAAATATG GTGCAAGAGATTTGTTTTAAAAGGGCACAAAAGTTCTAACTATAAAAAGA AAATTAATAAATTGGTCTTTATCATAAATAACTTCTAGTCACTATAAGAC ACCATTAAAAGTAAAAAGCCCAGAAATACATATATTTGACAAAGAACTCA TATCCAAATTACTAGTAAGAAAAAGACATAATCCAATTAAAAATGGGCAA AAAGGCTGGGCGTAGTATACCTGTAATCCCAGCACTTTGGGAGGCGAAGG CAGGAGGATCAATTGAGATCAGGAGTTCAAGACCAACCTGAGCAACATGG TGAAACCCCATGTCTATTAAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAA CTATGCAGGGTAACTTTTAAAATGCATTATTCTTGGGATCCAAAAATCCT AGGAATATTAAATCTCAGTAAAGCTGTTTGTCTTTTTTTTTTTTTAAGGT GAATGAAAAATAAATTCCTGGAGTGCTAGAGTGCAGACTACCAATCTTCA TTTTTTAGACTACTCTGGTTTGACTTTCCTGTAAGCTTAAGTTCAAAAAC CCTACTTTAGACTGTATCTACAGATGGTGCATTCCCTCTTTCCAGTTAAT TTTCACATTAGGTTTTAGGACTAATGATTACTATTAGGTGTCCCAAAATA ACTGAAAACCCTGGTAAACAGTCACGATTGAACGTGATTGATATAGAATA TTTCTTTCAACCATCCAGAATATATGGATAACAAGTCATTTTGTTCCATC CTCCCACAGGGGAAGAACAAAAAAGAGTAAAAGATAATACAATAGCATTT CCAGCCGCTTCCTCCTCACAGCCCTACAGTGTATTAATCAAATGATTTAA TTTTTAATCATAAGAAAGACAGTGGGCTGGCCGGGCGCG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0194 a0003c0004t0001g0194	1	384	0.0026	-3488	c.243 others(17): Show c.243-4775_243-1288del	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar

Search by Variant

Search

Search Results