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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
P2RX5_chr17_3668227_3701155	3686766	TCCCCCGC others(727): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAAC GTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACAC ACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTC CCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACA GCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	356	0.0028	-734	c.981 others(16): Show c.981+512_981+1245del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
TNNI3K_chr1_74230387_74549428	74518835	ACCTTACT others(727): Show ACCTTACTTTATTTTTTATTTTATTTTATTTTTTTTCCCCTTTTTTTTTT TTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGTGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATATTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGGTTGGTTCTAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTTAATGATTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01261.hp1 others(40): Show HG00639.hp1 HG01109.hp2 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02083.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18972.hp2 NA18993.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0003 a0004c0005 others(3): Show a0001c0001 a0001c0003 a0004c0005 a0005c0006 a0009c0011 a0010c0007	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0004c0005t0001 a0005c0006t0001 a0009c0011t0001 a0010c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0033 others(40): Show a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0004g0190 a0001c0003t0002g0181 a0004c0005t0001g0127 a0004c0005t0001g0139 a0005c0006t0001g0112 a0009c0011t0001g0174 a0010c0007t0001g0110	43	192	0.2240	-734	c.235 others(21): Show c.2352-21388_2352-20655del		TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
UMAD1_chr7_7635752_7884223	7784162	ACTGGGAA others(727): Show ACTGGGAACTTTTTAAACTCTCTTTTGTTATTTGCTTCACTTATTAAATC AGCAAAATCATTCCTACTTAATAAAGTTATTGGAAAGAGCTTATTATAAG GAGTTTGTCCCCTTTCATGAAATTTTCAAGGAAATTGTGATTTCCATGAC TTAAAATTTTCTACTTAAAATCTCTGTTTTTTTTTTTTTTTTGAGACAGA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTACCTTGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCCTTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGGCTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTGTA TTTTTTTTTTTTTTAAGTAGAGATGAGGTTTCACTGTGTTAGCCAGGATG GTCTCGATCTTCTGACCTCGTGATCCGCCCTCCTCGGCGTCCCAGAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTACTTAAAATCTTTTGA GGAAAAGTGCTATATCAGAAAATAAACAAGACCAACCCAGTTACATATTA CCATATCATCTGAATATGTTTTACATTAGCTTCTGCCCTTCCTTCTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATCTCGGCTCGCTGCAGGCTCCGCCCCCTGGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0051 a0001c0001t0069g0051	1	248	0.0040	-734	c.83- others(17): Show c.83-17507_83-16774del		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3						chr7	TogoVar
P2RX5_chr17_3668227_3701155	3686243	CCCCCCGC others(726): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	356	0.0028	-733	c.981 others(17): Show c.981+1036_981+1768del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SKI_chr1_2223319_2315213	2281059	CGGCGGCG others(726): Show CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG AGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGAC GCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGG TGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	167	0.0060	-733	c.970 others(19): Show c.970-21913_970-21181del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
TLCD2_chr17_1697816_1715377	1700878	TCAGCACT others(726): Show TCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGTTTGA AACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAA AAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCTGCTACTCAGGAG GCTGAGGCAGGAGAATCTCTTGAAATCGTAAGGCAGAGGTTGCAGTGAGC TGAGATCACGCCACTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCGT CTCAAAAATAAATAAATAAAATTAAATAAATAAATAAATAAATAAAAGGT GCCTGACATGGGGAAGGGGCACGACAAATGTTCGGCCGAGGATGCTCCTA AATAAATATTCATTTCAACACAAGAGCTCCTCTCTAAAGAGTAACTTCCC TTACATAGTTTTTTGCAAAATGAGGACTTCTAATTTTCAGCCCAACAAAA TCCAGATTTTATGTGATAAAGTTTTGACAGTTCAGTTATGAAGTTTTCTG TTGACTCAGGATTAATTTGGCTACAAGATTCTTTTGGTTTCAACCCTTGG CACTGAAAATCATTCTGCAGGCCCGGCGCAGTGCCTCACGCCTGTAATCC CAGCACTTTGGGAGGTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAA ATTAGCAGGGCGTGGTGGCTCACGCCTGTAATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG06807.hp1 others(1): Show HG03130.hp2 HG03471.hp1 HG06807.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0036 a0002c0005t0021 a0001c0001t0036 a0002c0005t0021	a0001c0001t0036g0166 a0002c0005t0021g0058 a0002c0005t0021g0139 a0001c0001t0036g0166 a0002c0005t0021g0058 a0002c0005t0021g0139	4	450	0.0089	-733	c.61 others(11): Show c.6159_*6891del		TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding					1937		chr17	TogoVar
VSTM2B_chr19_29520994_29569551	29566896	AGGGAGGG others(726): Show AGGGAGGGGCTGGTGTGATGGGCACAGGGGAGGTGCTGGTGTGATGGACA CAGAGAGGGGCTGGTGTGATGGGTACAGGGGAGGGGGCAGGTGTAATGGC TACAGGGGAAGGGCAGGTGTAATCGGCACAGAAGAGAAGCTGGTGTGATG GGCACAGAGGAGGGGCTGGTGTGATGGGCACAGGGGAGGGACTGCTGTGA TGGGCACAGGGGAGGGTCAGGTGTGATGGGCATAGGGGAGGGGCTGGTGT GACAGGCACAGGGAAGGGGGTCATGTGTGATGGCATGGGGAAGGGGACAG GTGTGATAGGTACAGGGGAGGGGCTGGTGTAATGGGCACAGGGGAGGAAC TGCTGTGATAGGCACAGGGGAGTGGGCAGGTGAGATGGGTACAGGGGAGG GGCAGGTGTGATGGCTACAGTGGAGGGGACAGGTGTGATGGGCACAGGGG AGGGGCTGGTGTGATGGACACAGGGTAGGGGCTGGTGTGATGGGTACAGG GGAGGGGGCAGGTGTAATGGCTACAGGGGAGGGGCAGGTGTAATGGGCAC AGAGGAGAAGCTGGTGTGATGGGCACAGGGGAGGTGCTGGTGTGATGGGC ACAGGGGAGGGGCAGATGTGATGGGCACAGGAGAGGGGCAGGTGTGATGG GCATAGGGGAAGGGCTGGTGTGATGGGCACAGGGGAGGGACTTCTGTGAT AGGCACAGGGGAGAAGCTGGTGTGATGGGCACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02145.hp1 others(7): Show HG01167.hp2 HG01169.hp1 HG02145.hp1 HG02572.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03225.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0003t0001g0057 a0001c0004t0001g0030	10	406	0.0246	-733	c.29 others(11): Show c.2963_*3695del		VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding					2346		chr19	TogoVar
C12orf40_chr12_39621183_39726914	39700537	CCAATCTA others(725): Show CCAATCTAGCAAGGCAGGCCAACATTCAGATTCAGGAAACAGAGATAATG CCACAAAAGATACTCCTCAAGAAGAGCAACACCAAGACACATAATTGTCA GATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAG AAAGGTCGGGTTACCCTCAAAGGGAAGCCCATCAGACTAACAGTGGATCT CTCAGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACA TTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTA AGCTTCATAAGTGAAGGAGAAATCAAATCCTTTACAGACAAGCAAATGCT GAGAGATTTTGTCACCACCAGGCCTGCCCTAAAGGAGCTCCTGAAGGAAG CACTAAACATGGAAAGGAACAACCGGTACCAGCCACTGCAAAATCATGCC AAAATGTAAAGACCATCGAGACTAGGAAGAAACTGCATCAACTAACGAGC AAAATCACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAA TATTAACTTTAAATGTAAATGGACTAAATGCTCCAATTAAAAGACACAGA TTGGCAAATTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGA ATCCCATACCACGTGCGGAGACACACATAGGCTCAAAATAAAAGGATGGA GGAAGATCTACCAAGCAAATGGAAAACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0102 a0002c0002t0001g0103	2	358	0.0056	-732	c.141 others(19): Show c.1411+8426_1411+9157del		C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12						chr12	TogoVar
HEXB_chr5_74680233_74726288	74699369	AGTTCAAG others(725): Show AGTTCAAGCAATTCTCTTGCCTCTGTCTCTCGAGTAGCTGGGATTACAGG TGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGT TTCACCATGTTGGTCAGGCTGATCTTGAACTCCTGACCTCAAGTGATTTG CCTGCCTTGGCCTCCCAAAATGATGGGATTACAGATGTGAGCCACCACAC CTGGCCTTTGCTACTCTTTTAACAGTTGAATATTTCATTTTATTTAGTCT CATGCTGATGGACATCTAAGTTAATTAACTATTATCATAAATACTACTGC AGTGTTTTATACATATATATTTGTACACTTGATAAGATTATTTCTGGAGG ATAAATTCTTAGAAGTGAATTTCTGGGCTTAAGATGTATATATTTTATTT TTTGGTACATTTTAACTTTTGGTATATACTGTCAGGCTGCCTTCTAGACA GGTCGGTCATAGCCACATATGCTTGGCCAACAGTGTGGTACATCTTTGCC ATGTTTGTTGCTGATCTAATGATAAAATATATCTCCTTGTTTTAATGTGC ACTTCCTTGCTTTTTAGTGAATATAAGCCTTTTTTTTACATATTAATTAT TTGTATATTTTATATTATAAACTGTAAGTTTCCTTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGTCTTGTTCTGTTGCCCAGACTGGAGTGCAGTGGCA CAATCTTGGCTCACTGTAATCTCTGCCTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	394	0.0025	-732	c.669 others(17): Show c.669+2272_669+3003del		HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
NHS_chrX_17370200_17740994	17619311	ATCTCAGC others(725): Show ATCTCAGCTGAACTGTGTGTGTGCTCAGCTCCAGTGTGACAGAAGCAGGA AACTGACCTCTGTTGCCTAAAGCCAGTGAAATATGAGAATTGTTTGTTAC ACTAGTTAGCCCACCCTAACTAATCTTGTATATGTGGCCAAAAATCAGTA CTGTCCTCATACACATTCTACAAGTTTCAGAGGGGCATGTAGAACACACT TCTCTGTAATTTGCACTGAACAGTAGGTCGTGAAAATGCATAACCAATGA GCCATGTGGCTCTTTGATCACCATGTCCAATTAAGCCACATGGTTATGTG ATTTTCTGGTTTGAGTCAGCTTTTTATCTGGGGCAGATGCAACTGTGGAC AGTTTCTTGTAGTAAAAACTGATCATTTCAGTAAGTGGCTTCTCCAGAGG ATGGAGAGGAAGGTACAGAAATTCATGTTAATTACCAAACACTTCAGGCT TTAGCTTCAGATTTTTTTTCTCTGAGAAACCTTTTCTAACCCCACTCATG TCTGGGTTGCTTGCCTCCCATGCCTCCCACCCTGTGTTCTTGCCACTGCC CATGCACCTACAGCGACTTCTTACCTCACTGGCTGGTAATGTCTAGCTCT TGATCTTGACTCTCTTTCTTTGTAGACCATATGTCTCAGAGGGTAGGGGC CATTTAAACTTGGCTCAGTGTTGTGTCCCCAGCATTCTGCCCAGTGCCTG ACACATACACATTGTTGACTGAATGATTAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG06807.hp2 HG01243.hp1 HG02723.hp2 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0002 a0010c0010t0003 a0001c0001t0002 a0010c0010t0003	a0001c0001t0002g0100 a0001c0001t0002g0143 a0010c0010t0003g0158 a0001c0001t0002g0100 a0001c0001t0002g0143 a0010c0010t0003g0158	3	164	0.0183	-732	c.566 others(19): Show c.566-68430_566-67699del		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8						chrX	TogoVar
PRDM16_chr1_3064203_3443621	3299544	GTGATGTT others(725): Show GTGATGTTTCCGATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGCC GTGCTGTGGCTGTGATGTTTCAGATCCCAGTCATGGTGACTCTGCCCTTG TTGAAGATGCTATGCTGTGGCCGTGATGTTTCCGATCCCAGTCGTGGTGA CTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCATGATGTTTCCGATCCC AGTCGTGGTGACTCTGCCCTGGTTGAAGATGCTATGCTGTGGCTGTGATG TTTCAGATCCCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTATGCTG TGGCCGTGATGTTTCCAATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAG ATGCCGTGCTGTGGCTGTGATGTTTCAGATCCCAGTCATGGTGACTCTGC CCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCAGATCCCAGTCAT GGTGGCTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCCG ATCCCAGTCATGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCTG TGATGTTTCAGATCCCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTA TGCTGTGGCCGTGATGTTTCAGATCCCAGTCGTGGTGACTCTGCCCTTGT TGAAGATGCTATGCTGTGGCAGTGATGTTTCCGATCCCAGTCGTGGTGGC TCTGCCCTTGTTGAAGATGCTATGCTGTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01361.hp1 others(2): Show HG00280.hp1 HG00438.hp2 HG01361.hp1 NA18939.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0088 a0001c0002t0016 others(2): Show a0001c0001t0001 a0001c0001t0088 a0001c0002t0016 a0001c0009t0074 a0002c0003t0001	a0001c0001t0001g0175 a0001c0001t0088g0090 a0001c0002t0016g0195 others(2): Show a0001c0001t0001g0175 a0001c0001t0088g0090 a0001c0002t0016g0195 a0001c0009t0074g0117 a0002c0003t0001g0019	5	179	0.0279	-732	c.438 others(19): Show c.438+55444_438+56175del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	260384	AGCTCCGC others(725): Show AGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCC CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGAC AGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAG CTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAG CATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCC GCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0064 a0003c0006t0001g0064	1	264	0.0038	-732	c.39 others(11): Show c.3965_*4696del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3303		chr5	TogoVar
TAF11L10_chr5_17592232_17602828	17597848	TCCGTGAC others(725): Show TCCGTGACAGCAGCTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATT GTGGATCTGCGATGAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGC TGAGCCAGTTTCGCCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCAC ACACAAACACACACACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTT GTGGAAGGAGAGTATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACC AATTTTGGGTATTTAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCT AGGCCAAGTGACTGCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGAT GGGTCTGGCTGTGCGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGA TCCGATTCGAGTTGGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCC CCAGGCCCACTTTTTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTC CTACCCGTGCTGCCCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACA ATCCAGTGCTGGGGAATCTCACTCTGAGCTCACTTCCTGATCCTGGGGTG CTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTGCTGCCC TTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGTTTGCCT GCCGGTCTCCATGGGTGAGATTCAAGTCTGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	352	0.0028	-732	c.-75 others(8): Show c.-752_-21del		TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding					21		chr5	TogoVar
FLT4_chr5_180596506_180654600	180635077	GGAGGGTG others(724): Show GGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGG TGGATGGATGCATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAG TATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGA TGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGATGCATGGA TGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATG GAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTA TGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGTATGGATGGATGGATGGATGGATGGGTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGG GTGGGTGGATGGATGGATGCATGGATGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0284 a0002c0004t0005g0284	1	379	0.0026	-731	c.59- others(15): Show c.59-4030_59-3300del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
LMF1_chr16_848634_975984	949507	GACAATGA others(724): Show GACAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCA GAGACAATGACAGAGTCAGAGACAACGACAGAGTCAGAGACGACAGAGTC AGAGACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAATGACAGAGTCA GAGCCAACGACAGAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGT CAGAGACAACGACAGAGTCAGAGACGACAGAGTCAGAGACGACAGAGTCA GAGCCAATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGT CAGCCAATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGA GTCAGCCAAGGACAGCGTCAGCCAACGACAGAATCAGAGACAACGACAGA GTCAGCCAACGACAGAGTCAGAGCCAATGAGAGTCAGAGCCAACGACAGA GTCAGAGACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAG TCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAG AGTCAGCCAACGACAGAGTCAGAGACAACGACAGAGTCAGAGCCAACGAC AGAGTCAGAGACGAAAGACTCAGAGCCAATGACAGAGTCAGAGCCAATGA CAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGA CAGAGTCAGAGACAGCGACAGAGTTAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	292	0.0034	-731	c.503 others(17): Show c.503+4119_503+4849del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	949509	CAATGACA others(724): Show CAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGA GACAATGACAGAGTCAGAGACAACGACAGAGTCAGAGACGACAGAGTCAG AGACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAATGACAGAGTCAGA GCCAACGACAGAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGTCA GAGACAACGACAGAGTCAGAGACGACAGAGTCAGAGACGACAGAGTCAGA GCCAATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCA GCCAATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAGT CAGCCAAGGACAGCGTCAGCCAACGACAGAATCAGAGACAACGACAGAGT CAGCCAACGACAGAGTCAGAGCCAATGAGAGTCAGAGCCAACGACAGAGT CAGAGACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTC AGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAG TCAGCCAACGACAGAGTCAGAGACAACGACAGAGTCAGAGCCAACGACAG AGTCAGAGACGAAAGACTCAGAGCCAATGACAGAGTCAGAGCCAATGACA GAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACA GAGTCAGAGACAGCGACAGAGTTAGAGACAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(104): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0014 a0020	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0018 a0001c0020 a0001c0023 a0001c0041 a0001c0044 a0001c0060 a0001c0067 a0002c0016 a0002c0017 a0002c0052 a0003c0009 a0003c0030 a0003c0032 a0005c0025 a0005c0043 a0006c0021 a0006c0048 a0006c0049 a0007c0046 a0008c0045 a0011c0047 a0014c0062 a0020c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0012t0018 a0001c0013t0001 a0001c0013t0014 a0001c0018t0001 a0001c0020t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0001 a0001c0060t0002 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0002c0052t0001 a0003c0009t0001 a0003c0030t0002 a0003c0032t0001 a0005c0025t0007 a0005c0043t0003 a0006c0021t0001 a0006c0021t0006 a0006c0048t0006 a0006c0049t0001 a0007c0046t0004 a0008c0045t0003 a0011c0047t0010 a0014c0062t0008 a0020c0040t0004	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 others(104): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0266 a0001c0001t0019g0255 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0284 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0006g0048 a0001c0002t0011g0292 a0001c0003t0001g0248 a0001c0004t0001g0049 a0001c0004t0001g0054 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0072 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0005g0071 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0068 a0001c0005t0001g0258 a0001c0006t0001g0073 a0001c0006t0001g0283 a0001c0006t0001g0286 a0001c0006t0001g0289 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0002g0287 a0001c0006t0002g0288 a0001c0008t0001g0023 a0001c0008t0001g0055 a0001c0008t0001g0056 a0001c0008t0001g0065 a0001c0008t0001g0074 a0001c0008t0001g0089 a0001c0008t0002g0057 a0001c0012t0001g0084 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0012t0018g0035 a0001c0013t0001g0042 a0001c0013t0014g0022 a0001c0018t0001g0242 a0001c0020t0001g0097 a0001c0020t0001g0100 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0060t0002g0128 a0001c0067t0001g0075 a0002c0016t0001g0062 a0002c0016t0001g0063 a0002c0017t0001g0080 a0002c0017t0001g0096 a0002c0052t0001g0018 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0006 a0003c0030t0002g0008 a0003c0032t0001g0007 a0005c0025t0007g0259 a0005c0025t0007g0294 a0005c0043t0003g0119 a0006c0021t0001g0019 a0006c0021t0006g0020 a0006c0048t0006g0108 a0006c0049t0001g0243 a0007c0046t0004g0036 a0008c0045t0003g0066 a0011c0047t0010g0281 a0014c0062t0008g0214 a0020c0040t0004g0270	107	258	0.4147	-731	c.503 others(17): Show c.503+4117_503+4847del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(724): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0229 a0001c0001t0001g0246	2	274	0.0073	-731	c.24 others(11): Show c.2433_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
TAF11L10_chr5_17592232_17602828	17597711	TGGGTGCT others(724): Show TGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTG CTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGT TTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAG CTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGAT GAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCG CCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACA CACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGT ATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTATT TAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACT GCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTG CGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTT GGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTT TTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGC CCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCAGTGCTGGG GAATCTCACTCTGAGCTCACTTCCTGATCCTG	T T	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0007 a0002c0002 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0006t0001 a0002c0007t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000	150	352	0.4261	-731	c.-61 others(8): Show c.-614_117del	p.Met others(10): Show p.Met1_Pro39del	TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding	1/1	117/597	1/597	1/198			chr5	TogoVar
TAF11L10_chr5_17592232_17602828	17598103	TGGGTATT others(724): Show TGGGTATTTAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCC AAGTGACTGCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTC TGGCTGTGCGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGA TTCGAGTTGGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGG CCCACTTTTTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACC CGTGCTGCCCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCA GTGCTGGGGAATCTCACTCTGAGCTCACTTCCTGATCCTGGGGTGCTTCC AAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTGCTGCCCTTCAG ACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGTTTGCCTGCCGG TCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAGCTGTACAGGCA GAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGATGAGAACCTTTC AAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCGCCGTAACCGGA CACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACACACTGAATTTT CTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGTATGTTAGTTTT AGGTCAATGCAGAACGAATTCTCACCAATTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG02717.hp2 others(8): Show HG00423.hp2 HG00438.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG06807.hp2 NA18964.hp2 NA18983.hp2 NA19080.hp2 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0006c0014t0001 a0001c0001t0001 a0006c0014t0001	a0001c0001t0001g0000 a0006c0014t0001g0000 a0001c0001t0001g0000 a0006c0014t0001g0000	11	198	0.0556	-731	c.-10 others(10): Show c.-1006_-276del		TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding					276		chr5	TogoVar
TAF11L9_chr5_17588798_17599394	17597711	TGGGTGCT others(724): Show TGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTG CTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGT TTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAG CTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGAT GAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCG CCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACA CACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGT ATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTATT TAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACT GCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTG CGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTT GGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTT TTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGC CCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCAGTGCTGGG GAATCTCACTCTGAGCTCACTTCCTGATCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01978.hp2 HG01981.hp2 others(30): Show HG00438.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp2 HG02622.hp2 HG02922.hp1 HG03710.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	33	112	0.2946	-731	c.-40 others(11): Show c.-4048_-3318del		TAF11L9	ENSG00000283988.1	transcript	ENST00000639969.1	protein_coding					3318		chr5	TogoVar
TAF11L9_chr5_17588798_17599394	17598103	TGGGTATT others(724): Show TGGGTATTTAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCC AAGTGACTGCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTC TGGCTGTGCGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGA TTCGAGTTGGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGG CCCACTTTTTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACC CGTGCTGCCCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCA GTGCTGGGGAATCTCACTCTGAGCTCACTTCCTGATCCTGGGGTGCTTCC AAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTGCTGCCCTTCAG ACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGTTTGCCTGCCGG TCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAGCTGTACAGGCA GAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGATGAGAACCTTTC AAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCGCCGTAACCGGA CACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACACACTGAATTTT CTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGTATGTTAGTTTT AGGTCAATGCAGAACGAATTCTCACCAATTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG03098.hp2 NA19068.hp2 HG00438.hp2 HG03098.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	48	0.0625	-731	c.-44 others(11): Show c.-4440_-3710del		TAF11L9	ENSG00000283988.1	transcript	ENST00000639969.1	protein_coding					3710		chr5	TogoVar
TEX29_chr13_111315642_111349248	111340358	GTGTTTAG others(724): Show GTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTGATGAAAA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAG CACCTGTGCTTGTTGATGAAAATCATAACCCC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02896.hp2 others(4): Show HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0012 a0001c0002t0003g0049 a0001c0002t0003g0279 a0001c0002t0001g0012 a0001c0002t0003g0049 a0001c0002t0003g0279	7	406	0.0172	-731	c.239 others(16): Show c.239+501_239+1231del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340691	CATCATAA others(724): Show CATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCA TAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	404	0.0025	-731	c.239 others(16): Show c.239+956_240-1138del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129088815	GGGTGTCC others(724): Show GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCC TGACCGGGATGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGATGTCC TCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTG TCCTCTATGACCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGG GGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCA TGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCT CTATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGG TGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGG GTGTCCTCCATGACCGGGTGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG03239.hp1 others(3): Show HG02040.hp2 HG02083.hp1 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0005 a0001c0001t0016 a0001c0002t0011 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0002t0011 a0007c0008t0004	a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0005g0071 others(3): Show a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0005g0071 a0001c0001t0016g0072 a0001c0002t0011g0001 a0007c0008t0004g0043	6	91	0.0659	-731	c.144 others(19): Show c.1444-4844_1444-4114del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TPO_chr2_1408463_1548673	1444977	CCTTCTTG others(724): Show CCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGA AGGGAATGGAGCTGGCTCCTTCTTGTTTGTATGATGCAGTCATTGCTGCA GGAGGTACTGTGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATG ATCCAGTCATTGCTGCAGGAGGCACCATGTTGGAAGGAAATGGGGCAGGC TCCTTCCTGTTTGTATGATCCAGTCACTGCTGCAGGAGTCACCATGTTGG AAGGGAATGGGCAGGCTCCTTCTTGTTTGTATGATCCAATCACTGCTGCA GGAGGCACCATGTTGGAAGGGAATGGGCAGGCTCCTTCCTGTTTGTATGA TCCAGTCATTGCTGCAGGAGGCACTGTGTTGGAAGGGAATGAGCAGGCTC CTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCCTGTTGGAA GGTAATGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGG AGGCACCATGCTGGAAGGGAATGGGCAGGCTCCTTCTTGTTTGTATGATC CAGTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAATGGGGCAGGCTCC TTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGAAG GGAATGGGGCAGGCTCCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGG TACCGTGTTGGAAGGGAATGGGCAGGCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0053 a0002c0002t0003g0053	1	128	0.0078	-731	c.482 others(17): Show c.482+8597_483-7983del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1191141	CTGACTCA others(723): Show CTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTC TCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACT CGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAG GCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGC CTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGT GGCCTCAGGCACACTCGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTG TGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGT GTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGT TGTGTGGCCTCAGGCACACTCAGGGTTTTGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp1 HG02257.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0218 a0001c0031t0001g0217 a0001c0001t0001g0218 a0001c0031t0001g0217	2	335	0.0060	-730	c.300 others(17): Show c.300-3826_300-3097del		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC200_chr17_43216420_43233623	43232893	CCCGTTAC others(723): Show CCCGTTACTTAGCAGAATTACTACGCAGCCATAAAAAAGGATGAGTTCAT GACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACT GACACAGGAAGCGAAAACAAACACCGCATGTTCTCGCTCCTAAGTGGGAG TTGAACAGCGAGAACACATGGGACACAGGGAGGGGAACATCACACGCCGG GCCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATA GCCAACGCATGCGGGGCTTCAAACCTAGACGACTGGTGGATAGGTGCAGC AAAGCACCGTGGCACACGTGTACCTATGTTCCAAACCTGCACGTCCTGCA CATGTACCCCAGAACTTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGG AGAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACA GAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAC AGAGAGAGAGACAGAGAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCC GGGTGGGTCCCATTCCTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCT GAGATCCTAAGGACCTCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCG CAGTAGCCACGGTGGAAACGACAGCGTGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	332	0.0030	-730	c.-50 others(11): Show c.-5069_-4340del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4271		chr17	TogoVar
DISC1_chr1_231621790_232046272	231832888	CATGCTGT others(723): Show CATGCTGTAACAGGTGAGTGATAACAGGCTTTAATCATTTTAAAGAGTGC TGTGGGATGGGATATTGGCATTGAGCAGGCTAAGGGTGATTAGGTTTTAA TGAGATGGTAAGGGGTGCATGATCGGTCACCAAGGAGGGAGTAGAGGTAT CTTATACTTGTGGGTTAAGGTGGGGGGATACAAGAGGAGGACGCAAAGGA GGCTTTGGATTGGGAAGAAGGGCGGCAATGAGATTCAGCTGTAGTCCAGG AATAGTCAGGGAAGCAGATAATTTAGTTAAAGTGTCTCAGCCTAATAAGG GAACTGGACAGGTGGGGACAATTAAAAAGGAGTGCTTAAAAGAGTATTGT CAAAGTTGGCACCAGAGTTGGGGAGTTTTAAGAGGTTTAGAAGCCTGGCC GTCAATATCTACAACAGTTATGGAGGCAAGGGAAACAGGCCCTTGAAAAG AAGGTAATGTGGAGTGGGTAGCCTCCATATTGATTAAGAAGGGGAAGGAC TTACCCTCCACTGTGAGAGTTACCCAAATCTCGGCATCCATGATGGTCTA GGGGGCTTCCAAGGCGATTTGGCAGTGTCAGTCTTCAGCTGCTAAGCTGA GAAGATCTGGGAAGGAGTCAGTCAGAGAGCCTTGGGCCAGAGTTCCAGGG GCTCTGGGAGTGGCTGCCAGGTGAGTTGAACAGTCCGATTTTCAGTGGAG TCCCGCACAGATGAGACGCGGCTTAGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0021 a0003c0007t0006g0021	1	38	0.0263	-730	c.198 others(21): Show c.1981+14374_1981+15103del		DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF180_chr5_64160843_64377869	64324627	TCCCATAA others(723): Show TCCCATAATTACTCTCAGTTTCTTTGCTTTGCTTTCCTCCTGACACCCCT TAGGCTTTGGCTCTTTCTTTGAGGTCCAGGAAGACACAAAATATAGAATA GAGAATGTTCCACACGCAGTATGAGAATGAAGTATGACGTCTTCTGCCTT CACTTTTCATCATGCATGGATGCTCATATTAAAACTCTATAACCTTGTGA CAACCAGTTTATTTGCTGTGGTAGGAATGGGGTAGATAGAGAATCTACAT AATTCTGGGACTGGTACACCTAACACCTATCTAGTGTTGATTAAGCCAAA ATACAGGTATACTTAATAGGTTTAGGTATATTTTAGCACTTAGCACTATG TCACAATACTAAAAAGAAAAATAGGCTTCTGGGTTTTCATGTATATTTTT AGTTTCTTGACTTTGAAAGGTAGCATTTCTGGCACTTTGAATATGCCACA GTTTATATGCTTCTCAAATATTTTTGTTCATTTTAACAAAATATAAAGGC TATCTTAAGGAAACCAATCTCATACTAAATTAAGAAAAAAGTTTTCTTAT GTTTTGCAGACTTTGAATAATGAGATGAGTACAGATGAAGACAATGAATA TGCAGAAGAAAAGGATAGCTACATCTGTGCAGTGTGTCTGGACGTTTATT TCAACCCTTATATGTGTTACCCTTGCCATCACATCTTCTGTGAGCCCTGC TTACGGACTCTGGCCAAAGACAATCCTTCAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0093 a0004c0004t0004g0093	1	248	0.0040	-730	c.122 others(13): Show c.1228-558_1399del	p.Thr others(5): Show p.Thr410fs	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	6/8		1228/1779	410/592			chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291739	CCGTGTCC others(723): Show CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATG TCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCT CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGT GTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCC GTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	274	0.0036	-730	c.121 others(16): Show c.1214+30_1214+759del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775391	AGGTGAGA others(722): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18612.hp1 NA18953.hp1 HG03486.hp1 NA18612.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 a0001c0001t0001 a0001c0001t0002 a0001c0001t0047	a0001c0001t0001g0056 a0001c0001t0002g0139 a0001c0001t0047g0066 a0001c0001t0001g0056 a0001c0001t0002g0139 a0001c0001t0047g0066	3	214	0.0140	-729	c.565 others(17): Show c.565+5594_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
DMRT1_chr9_836697_974090	871436	CATTCTCC others(722): Show CATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGCGCCA CCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGACGCGAGCCACCGCGCC GGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCAATCTCCTGACCTCGTGATTCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCGGCCTAGTCTTT GAACTCTTAAAGCTGCATTTCTTTTGGAAGATGGCCCAGCATTTTTGTCT GATTCTTCAAGGAGTCTGTGACCTAAAAAGTATTAAGAACCACTGCTTTG AGTTTAAAACGATGGCCCTTTTCCAACAACTACCATTTCTTGTTATATTT TCTTCATCTCTCTATATACCTATTTACATTTTTCTATTGATTTCTGAGTA AATAGGAAGCAGACTTTATATTATTTGAGACCCTTCTAAAAATAACTTAC TGAGGTATAATTTACATGCCATAAAACTCACCATCTTTTTTTTTGTGATG GCATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATTTCGGCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0081 a0002c0002t0003g0081	1	304	0.0033	-729	c.539 others(19): Show c.539-22463_539-21735del		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	320708	CACTCACG others(722): Show CACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGA GATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTT CTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAA AAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAAC ACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAA CCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGC TGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGA CCAGAGATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0004 a0001c0049t0004	a0001c0049t0004g0057 a0001c0049t0004g0057	1	254	0.0039	-729	c.827 others(17): Show c.827+3582_828-4233del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHHADH_chr3_185185624_185259049	185230945	ATAAACAA others(722): Show ATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGT CACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACA AAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGA AATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGA GACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAAA ACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATT CTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAG CCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATCC AGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACA TATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGAT AAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGATTCTGTTTA TATGAAATATCCAGAATAGGCAAAACATGC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0009 a0013c0015t0009	a0013c0015t0009g0017 a0013c0015t0009g0017	1	346	0.0029	-729	c.352 others(17): Show c.352-2131_352-1403del		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6						chr3	TogoVar
LPP_chr3_188149157_188895671	188784723	TTCCATCA others(722): Show TTCCATCATATATATATTCCATCATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATATTCCATCATATATATATATTCCATCATATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TTCCATCATCATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATAT ATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATAT ATATATATTCCATCATATATATATATTCCATCATATATATATATTCCATC ATATATATATTCCATCATATATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0025 a0001c0002t0011g0025	1	74	0.0135	-729	c.141 others(21): Show c.1410+24442_1410+25170del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11						chr3	TogoVar
MYRIP_chr3_39804609_40265321	39956677	TCAGAGCA others(722): Show TCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATC AATGAATCCAGGAGCTTGTATTTTGAAAAGATCAACAAAATTGATAGACC GCTAGCAAGACTAAGAAAGAAGAAAAGAGAGAAGAATCAAATAGATGGAA TAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAATT ACCATCAGAGAATACTATAAACACCCCTACACAAATAAACTAGAAAATCT AGAAGAAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACC AGGAAGAAGTTGAATCCCTGAATAGACCAATAACAGGCTCTGTAATTCAG GCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCAGATGGATT CACAGCCGAATTCTACCAGAGGTACAAAGAGAAGCTGGTACCATTCCTTC TGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTT TATGAGGCCAGCATCATCCTGATACCAAAGCCTGACAGGGACACACCAAA AAAGAGAATTTTAGACCAATATCCCTGATGAACATTGATGCAAAAATCCC CAATAAAATACTGGCAAACCGAATCCAGCAGCATATCAAAAAGCTTATCT ACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGCTCAACATA TGCAAATCAATAAACGTAATCCATCATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03540.hp2 NA19030.hp2 HG03041.hp1 HG03540.hp2 NA19030.hp2	a0002 a0006 a0002 a0006	a0002c0008 a0006c0016 a0002c0008 a0006c0016	a0002c0008t0001 a0006c0016t0008 a0002c0008t0001 a0006c0016t0008	a0002c0008t0001g0027 a0002c0008t0001g0061 a0006c0016t0008g0138 a0002c0008t0001g0027 a0002c0008t0001g0061 a0006c0016t0008g0138	3	168	0.0179	-729	c.110 others(19): Show c.110+55752_110+56480del		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	2/16						chr3	TogoVar
SNED1_chr2_240993618_241100568	241078122	CGCCTGTA others(722): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCAGGT CAGGCGTTCGAGACAAGTCTGGCCAACGCGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCT CCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGTTT GCAGTGAGGTGAGATCGCGCCACTGCACTGCAGCCTGGGAGACAGAACTA GACTCCGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAGAAAGGATAA GCAAAACATGGTATATCCACTCAATGGAACACGATTCAACCATAAAACAA GGACGCATGCTGCATGCTACAACATGGATGAATCTTGAAAACATGCTAAG TGGAAGAAGCCAGACACAGAAGACTCTATGTACTATGATTCCATTCATAT GAAAGTCCAGCAGAGGGAGCTCTCTAGTGACAGAAAGTACATTAGCGGTT GCTCAGGACTGGAGGGTGGAGGGGATGGGGAAGGCAGTAACAGCTAAAAG GTACAAGGTTTCTTTCTGAGGTCACGAAAATGTTCTAAAATTGTGCTGAT GGATGCCTGTATCTGTGAATATGCTTAAAACCAATAAATTGTACACTTTG GGTGAATTTTATGTTATATGAATTATCTCAATAATGCCTGCTTTAAAAAA GTTATGTGCAGGCCAGGCACGGTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp2 HG03471.hp1 others(2): Show HG02451.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2	a0009 a0009	a0009c0030 a0009c0031 a0009c0067 a0009c0030 a0009c0031 a0009c0067	a0009c0030t0027 a0009c0031t0028 a0009c0031t0036 others(1): Show a0009c0030t0027 a0009c0031t0028 a0009c0031t0036 a0009c0067t0028	a0009c0030t0027g0127 a0009c0030t0027g0208 a0009c0031t0028g0224 others(2): Show a0009c0030t0027g0127 a0009c0030t0027g0208 a0009c0031t0028g0224 a0009c0031t0036g0027 a0009c0067t0028g0039	5	342	0.0146	-729	c.391 others(19): Show c.3917-3527_3917-2799del		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79745570	CGCGTCCC others(721): Show CGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTC TGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGC GCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTC CCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGT TCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGT GCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCC TCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTG TGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGC GTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCC GTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTC CCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGTGCC CGCGTCCCTCCCGTGCGCGTTCTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02970.hp1 NA18940.hp2 others(12): Show HG02132.hp1 HG02970.hp1 NA18940.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18988.hp2 NA18990.hp2 NA18999.hp2 NA19004.hp1 NA19066.hp2 NA19080.hp2 NA19088.hp1	a0001 a0018 a0001 a0018	a0001c0003 a0001c0016 a0001c0020 others(1): Show a0001c0003 a0001c0016 a0001c0020 a0018c0025	a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 others(1): Show a0001c0003t0001 a0001c0016t0001 a0001c0020t0001 a0018c0025t0001	a0001c0003t0001g0002 a0001c0003t0001g0029 a0001c0003t0001g0037 others(11): Show a0001c0003t0001g0002 a0001c0003t0001g0029 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0046 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0016t0001g0065 a0001c0020t0001g0343 a0018c0025t0001g0071	15	351	0.0427	-728	c.274 others(19): Show c.2748-8057_2748-7330del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CXCL16_chr17_4728533_4744928	4737312	TCACACCT others(721): Show TCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCT GAGGTCAGGAGTTTGAGACCAGCCTGACCAACACGGTGAAACCCCATCTC TACTAAAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAAT CCCAGCTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGC GGAGGCTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAG AGCAAGACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAA GAAATAAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAA TAAAGCAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATG TTTATGTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTA GGTGGAGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATG TGTAAATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGG TGGCTCACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATC ACAAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAAATTAGCCAGGCTTGGTGGTGCGCGCCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01070.hp1 others(6): Show HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01952.hp1 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	9	436	0.0206	-728	c.301 others(16): Show c.301+368_301+1095del		CXCL16	ENSG00000161921.17	transcript	ENST00000293778.12	protein_coding	3/5						chr17	TogoVar
FLRT2_chr14_85525144_85659428	85598657	AGCTGAAG others(721): Show AGCTGAAGGAAACCTTAGATGTTATAAAATTCCTCTTCTTCCTGTTACGG TTTTAATATGCAATCCTAGATAAATGAAGTGACAACACTTCCCGTTAGTG ACAGAACTAAGACAAAGATGTAGGTCTTCGGAATTCAATTTACCTCCTTC TCCTATTCAGACAGCCTCTCTTTAAAAAGCTGTGTTGTGTGATAGGTTTG ATGATGTGCAACTTATTTTATATAGCTATACATTAAGATGAAATAAGAGA AATGGGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAAGCTCCGCC TCCTGGATTCAACCCATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCTCCCGTCATCATGCCCGGCTAATTTCTTTTTGTATTTTTAGTAG AGACAGGTTTTCACTGTGTTAGCCAGGATGATCTTGATCTCCTGACCTCG TGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC GCTGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTCAAGGTGACAAGTATT GCAAACAGCTTTTGATCCTATGAATCACTATTAACTCAATAGGCTAAAAG TATTTGCAAGGTCAGAAATGGCCATATTTTGGCTGCTGCCTCTGTAAACC ACTGTGAAGAACAATCTTATAAGTAGGGC	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0052 a0001c0001t0044g0052	1	336	0.0030	-728	c.-37 others(21): Show c.-376-22478_-376-21751del		FLRT2	ENSG00000185070.12	transcript	ENST00000330753.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(721): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG CGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCA CCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp1 NA18944.hp1 others(2): Show HG02280.hp2 HG04228.hp1 NA18944.hp1 NA18990.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0014 others(1): Show a0001c0001 a0001c0003 a0003c0014 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0003c0014t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0003c0014t0001 a0004c0008t0001	a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0003t0001g0042 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0003t0001g0042 a0003c0014t0001g0067 a0004c0008t0001g0194	5	128	0.0391	-728	c.141 others(21): Show c.1416+10052_1417-10745del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MED11_chr17_4726428_4738607	4737312	TCACACCT others(721): Show TCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCT GAGGTCAGGAGTTTGAGACCAGCCTGACCAACACGGTGAAACCCCATCTC TACTAAAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAAT CCCAGCTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGC GGAGGCTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAG AGCAAGACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAA GAAATAAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAA TAAAGCAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATG TTTATGTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTA GGTGGAGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATG TGTAAATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGG TGGCTCACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATC ACAAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAAATTAGCCAGGCTTGGTGGTGCGCGCCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01070.hp1 others(6): Show HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01952.hp2 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006	9	430	0.0209	-728	c.41 others(11): Show c.4126_*4853del		MED11	ENSG00000161920.11	transcript	ENST00000293777.6	protein_coding					3706		chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(721): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACAC ATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0071 a0001c0004t0018 a0001c0001t0071 a0001c0004t0018	a0001c0001t0071g0216 a0001c0004t0018g0086 a0001c0001t0071g0216 a0001c0004t0018g0086	2	236	0.0085	-728	c.894 others(17): Show c.894-7748_894-7021del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
SAMD11_chr1_918923_949574	934008	AGGGGAGG others(721): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	424	0.0024	-728	c.843 others(16): Show c.843-1680_843-953del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934148	AGGGGAGG others(721): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	299	0.0067	-728	c.843 others(16): Show c.843-1596_843-869del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(721): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18990.hp1 HG01081.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0073 a0001c0003t0004g0102 a0001c0001t0001g0073 a0001c0003t0004g0102	2	165	0.0121	-728	c.637 others(19): Show c.637+11369_637+12096del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560572	ATTCTTGG others(721): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	92	0.0109	-728	c.637 others(19): Show c.637+11420_637+12147del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560629	TGGAGGAG others(721): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	143	0.0070	-728	c.637 others(19): Show c.637+11445_637+12172del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560884	ATTCTTGG others(721): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	128	0.0078	-728	c.637 others(19): Show c.637+11705_637+12432del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561300	GTTCTTGG others(721): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGC CCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACAAGGCTCTCACTGCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	146	0.0068	-728	c.637 others(19): Show c.637+12135_637+12862del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results