Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CCDC77_chr12_396644_447642	419828	AAAATACA others(880): Show AAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp1 HG02647.hp1 HG01891.hp2 HG01952.hp1 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0003c0003t0004 a0001c0001t0004 a0003c0003t0002 a0003c0003t0004	a0001c0001t0004g0176 a0003c0003t0002g0372 a0003c0003t0004g0175 a0001c0001t0004g0176 a0003c0003t0002g0372 a0003c0003t0004g0175	3	429	0.0070	-887	c.413 others(17): Show c.413+1196_413+2082del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
CLASP1_chr2_121332776_121654462	121630898	GCCTGTAA others(880): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTC AGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAA AAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCCATAGTCCCAGCT ACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGGTT GCAGTGAGCCGAGATTGCGCCATTACGCTCCAGCCTGGGTGACAAAGCGA GACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGAAGAAAA GTGCTCAATTTGCTTTTGATCACTGAACTATAGTCATATTTTAATTCAAA AAATGACACATGACATGTTTCTACGCCATTTTAAAATTACTTTTTTTTTT TTTTTTTTTGAAATGGAGTCTCGCTCTGTCACCATGCTGGAGTGCACTGG TACGATCTTGGCTCACTGCAACTTCCGCCTCCTAGATTCAAGCAATTCTC CTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACACACCACCAGGCC CAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGACCA GGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCTCGACCTCCCAA AGTGCTGGGATTACAGGCGTAAGCCACCAAGCCCGGCCTGAAATTACATT TTTTAAACATATTTTTAAAATACATATTGCAGGCCAGGCACAGTGGCTCA CACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAG CTCATGAGTTTGAGAACAGCCTGGGCAACATAGTGAGACCCCATCTCTAC AAAAAATACAAAAATCGGGCCAGGCGCAGTGGGTCACA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0213 a0001c0002t0072g0213	1	212	0.0047	-887	c.-28 others(21): Show c.-286+17587_-286+18473del		CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40						chr2	TogoVar
CYP4F3_chr19_15635897_15667825	15666938	GTTGTTGC others(880): Show GTTGTTGCCTCCCTTTCTGCCCTTATCCTTCAGGAAGCCCAGTGAATATA TTGCCTCTGTCTTGGAGCTCAGTTCCCTTGTGGCAAAAAGAAACCAGCAG ATCCTCCTGCACATGGACTTCCTGTATTATCTCACCCATGATGGGCGGCA CTTCCACAGGGCCTGCCGCCTGGGGCATGACTTTGCAGACGCTGCCATCC AGGAGAAACGCCACACCCTCCCTAGCCAGGGTGTTGATGACTTCCTCCAA GCCAAAGCCAAGTCCAAGACCTTGGACTTCATTGATGTGCTCCTGATTAG CAAAGTGGGCTTCTCTGAGATTTGAATTCAAGAAGCAGAAGGGAGCTTAA TGTCAAATATCAGATCAAAGAACTTAGACTTGATCCAGAGGGCACTGGGG AGTCATGGCAGGTGCTTGAGGAAGGGAGAGACAGGTCAGAGATAGGTTTT AGAGATGACTTTGCTGAATGCACCTAGCAGGGGACTGCTAGATGTGAAAC TGACAAGTATAAGATTTTACTCTATTTATGCATTAATAAGCTAGTCTATA TAAGTATTAATATATCTATATCTATATCTATATCTATATCTATATCTATA TCTAATGTCTAGGTCATTGTCCATGCCTGAATTTGTGTCTGTGTCCATGA CTATGTCTGTGTCTTTGTCTTTGTCATTGCGAGTGTCTGTCTTTGTATCT GCTTCTTTTTCTTTCGTTGTGTCTATATCTATGTCTTTGTGTCTTTTCTA TGTCTGTGTCTGTCTTTTCTTTGTCTATATCTTTGTCAATGTCTATGTTT ATGTCTTTGTGTATGTCTGTTTATATCTTTATGTATGTCTTCATCTCAGT CTTTATGTCTATGTTTAGTGTCTTTTCTGTGTCAATGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0389 a0001c0001t0076g0389	1	422	0.0024	-887	c.75 others(11): Show c.7554_*8440del		CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding					4114		chr19	TogoVar
CLASP2_chr3_33491245_33723254	33511697	TAAGAACA others(879): Show TAAGAACACGTAAAAATAAAACAAACAACCCCATCAAAAAGTGGGCGAAG GACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACA CATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT ATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACT TAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(138): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0015 a0001c0017 a0002c0002 a0003c0009 a0005c0011 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0003t0007 a0001c0004t0002 a0001c0005t0008 a0001c0006t0002 a0001c0008t0001 a0001c0010t0001 a0001c0012t0003 a0001c0015t0002 a0001c0017t0003 a0002c0002t0009 a0003c0009t0003 a0005c0011t0002 a0006c0013t0003	a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 others(138): Show a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0134 a0001c0001t0002g0154 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0211 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0258 a0001c0001t0004g0015 a0001c0001t0004g0136 a0001c0001t0004g0144 a0001c0001t0004g0172 a0001c0001t0004g0213 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0236 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0010g0001 a0001c0001t0011g0062 a0001c0001t0015g0047 a0001c0003t0007g0233 a0001c0003t0007g0234 a0001c0003t0007g0235 a0001c0003t0007g0237 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0268 a0001c0005t0008g0262 a0001c0005t0008g0263 a0001c0005t0008g0264 a0001c0005t0008g0269 a0001c0006t0002g0208 a0001c0006t0002g0209 a0001c0006t0002g0210 a0001c0008t0001g0002 a0001c0010t0001g0003 a0001c0012t0003g0006 a0001c0015t0002g0224 a0001c0017t0003g0031 a0002c0002t0009g0182 a0002c0002t0009g0184 a0003c0009t0003g0048 a0003c0009t0003g0164 a0005c0011t0002g0005 a0006c0013t0003g0035	141	276	0.5109	-886	c.411 others(18): Show c.4111-1819_4111-934del		CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	36/38						chr3	TogoVar
PLXNA4_chr7_132118340_132581470	132562073	TTCCTCCT others(879): Show TTCCTCCTCCTCTCCCTCCTCCTTTCTCCTCCTCCTCCTTCTCTCCTTCT CCTCCTCCTTCTCTCCTTCTCCTCCTCCTTCTCTCCTTCTCCTCCTCCTC TTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCTT CCTCTTTCTCCTACTCCTCCTTCTCCTCCTCCTCCTCTTCTTTCTCTGCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCTCCTCTTCCTCCTCTTCCTC CTCCTCTCTCTCCTCCTCCTTCTTCTCCTTCCTCCTCCTCCTCTGCCTCC TCCTCCTTCTCCTCCTCCTTCTGCTGCTCCTCCTCCTTCTCCTCCTTCTC CTACTCCTTTTCCTCTTCATCCTCCTCCTCCTTCTCCTCCTCCTCCTTTC TCCTCCTCCTTCTCTTCCTCTTTCTCCTCCTCCTCCTTCTCCTCCTCTTC CTCCTCCTTCTCCTCTTTCTCCTCCTCCTCCTTCTCTTCCTCCTTTCTCC TCCTCCTTGTCTTCCTCTTTCTCCTCCTCCTCCTCCTTCTCCTCCTCTTC CTCCTCCTTCTCCTCCTCTTTCTCCTCCTCCTCCTCCTTCTCTTCCTCCT CCTCCTCCTCTCCTCCTTTTCCTCCTCCTCCTTCACCTCCTCCTCCTTTT CCTCGTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTTT TCCTCCCCCTCTTCTTTCTCCACCTCCTCCTTCTCCTCCTCCTTCTCCTC CTCCTTCTCCTCCTCCTTCTCTTCCTTTCTCCTCCTCCTCCTTCTCCTCC TCCTCTTCTTTCTCTGCCTCCTTCTCCCCCTCCTCCTCCTCTTCCTCCTC CTCCTCTCCCTCCTCCTCTCCCTCCTCCTCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03540.hp1 others(1): Show HG02809.hp1 HG02922.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0017 a0001c0001 a0001c0006 a0001c0017	a0001c0001t0003 a0001c0001t0013 a0001c0006t0007 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0006t0007 a0001c0017t0003	a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0006t0007g0085 others(1): Show a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0006t0007g0085 a0001c0017t0003g0088	4	85	0.0471	-886	c.-87 others(19): Show c.-87+13463_-87+14348del		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31						chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	AGAGCAGC others(878): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02809.hp1 others(4): Show HG01891.hp1 HG02109.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0020 a0001c0007t0003 a0001c0001t0003 a0001c0001t0020 a0001c0007t0003	a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0066 others(4): Show a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0020g0075 a0001c0007t0003g0085	7	151	0.0464	-885	c.298 others(17): Show c.2980+229_2981-321del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	AGAGCAGC others(878): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02809.hp1 others(4): Show HG01891.hp1 HG02109.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0057 a0001c0003t0004g0014 a0001c0003t0004g0057	7	241	0.0290	-885	c.-31 others(11): Show c.-3160_-2276del		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2081		chr8	TogoVar
FOXN3_chr14_89151177_89422233	89361615	ACCACCTC others(878): Show ACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCA GCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCC ACCACCACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCACCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCA CCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCACCTCCACCACCACCTCCACC ACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCA CCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACC ACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCAC CTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCA GCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCC TCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTC CTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACCT CCTCCTCCACCACCACCACCACCACCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0185 a0001c0001t0013g0185	1	222	0.0045	-885	c.544 others(19): Show c.544-11692_544-10808del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
MUC17_chr7_101015081_101063859	101038140	GCAACTCC others(878): Show GCAACTCCTGTTGACACCAGCACACCTGTGACCACTTCTACTGAAGCCAC TTCATCTCCTACAACTGCTGAAGGTACCAGCATACCAACTTCAACTCTTA GTGAAGGAACGACTCCATTAACAAGTATACCTGTCAGCCACACGCTGGTG GCCAATTCTGAGGTTAGCACCCTTTCAACAACTCCTGTTGACTCCAACAC TCCTTTCACTACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAG GTACCAGCATGCCAACCTCAACTTCTAGTGAAGGAAACACTCCATTAACA CGTATGCCTGTCAGCACCACAATGGTGGCCAGTTTTGAAACAAGCACACT TTCTACAACTCCTGCTGACACCAGCACACCTGTGACTACTTATTCTCAAG CCGGTTCATCTCCTACAACTGCTGACGATACTAGCATGCCAACCTCAACT TATAGTGAAGGAAGCACTCCACTAACAAGTGTGCCTGTCAGCACCATGCC GGTGGTCAGTTCTGAGGCTAGCACCCATTCCACAACTCCTGTTGACACCA GCACACCTGTCACCACTTCTACTGAAGCCAGTTCATCTCCTACAACTGCT GAAGGTACCAGCATACCAACCTCACCTCCTAGTGAAGGAACCACTCCGTT AGCAAGTATGCCTGTCAGCACCACGCCGGTGGTCAGTTCTGAGGCTGGCA CCCTTTCCACAACTCCTGTTGACACCAGCACACCTATGACCACTTCTACT GAAGCCAGTTCATCTCCTACAACTGCTGAAGATATCGTCGTGCCAATCTC AACTGCTAGTGAAGGAAGTACTCTATTAACAAGTATACCTGTCAGCACCA CGCCAGTGGCCAGTCCTGAGGCTAGCACCCTTTCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0034 a0034	a0034c0032 a0034c0032	a0034c0032t0003 a0034c0032t0003	a0034c0032t0003g0008 a0034c0032t0003g0008	1	364	0.0027	-885	c.673 others(9): Show c.6739_7623del	p.Thr others(15): Show p.Thr2247_Asp2541del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	6794/14352	6739/13482	2247/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMED2_chr12_123579552_123603582	123579878	GGAGGTTG others(878): Show GGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGAGTC AGAGCGAGACTCCATCTCAAGTTAAAAAAAAAAAAAAAGCCTGGGCGCAG TGGCTCTTACCTATAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGATC ACGACGTCAGGAGATCAAGACCACAAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAAC CCAGGAGGCAGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCAAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAG ATATTATCAGTTGAAAGAGACATCCGGGAAACAGGCGTATCAATGTGTTG TTAAGGATAGAGGAAGAGGCTCTAGGCTGTCTCCCTCCAGTGACGGCACT GGAGTCACATTACAGAACTGACCTGCCAGGGAAAGCAGGATGTCTGCCAG TCTGGAAGATGGGGAAGTAGGGGATCACCAGTAGAACTCTTCAGTTCAAT AATACAGTTAACCCTTGAACAACGCAGGTTTGAAATGCATGGGTCCGCTT ATATATGGATTTTTTTCACCTGGCTGGGCACCGTGGCTCACATCTGTAAT CCTGGCACTTTGGGAGGCGGAGGCAGGCGGATCAGTTGAGGCCAGGAGTT CGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATTCA AAAATTAGCCGGGCATAGTGGCCGGCGCCTGTAATCCCAGCCACTTGGGA GGCTGAGGCAGGAGAGTCTCTTGAGCCTGGGAGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0048 a0001c0001t0012g0049 a0001c0001t0012g0048 a0001c0001t0012g0049	2	282	0.0071	-885	c.-47 others(11): Show c.-4758_-3874del		TMED2	ENSG00000086598.11	transcript	ENST00000262225.8	protein_coding					4673		chr12	TogoVar
ZNF124_chr1_247149989_247177020	247176135	ATTTATAT others(878): Show ATTTATATATGTATCTATACTATATACATATGTATGCATGTATACTATAT ACATATGTATGCATATATACATATATACTATATATACACATATATAGTAT ATATACACTACATATATACTATACACTACATATATACATTACTATATATG CTATATATATACACTATATATATAATATATATAAACCTATGTATATAGGA CTAAATGACACTTGAAAGAATGAATCTCAAATACTTTTCCCTTCAAATCC ACTGTCTGTTTAAGTATACATTTTGCATATAATGAAAAAATACATAAAAA TTAAAATGTAAGGTTTATCTCACTATCCAGTGTATCAGTTGGACCAAAAA TGAGGAAAAAGAGGCATCTTGTCTGCAGGAAGTTCTCAATTCTCCTGGGA CCCCCGAACCACCTGCGCCCCCCAAGCAGACCCCGTTCTTGGCCTGTTGC CAGTGGCAGTGCATCCTGATGAGGCTTCCACGTCTTGGCCCAGGAGGCAC AGGGAGGGTAGGAGGTTGTCTGTCTCACAGCCAGGCCAATATCCCTGACC CAGGACCCTCTGGAAGAAGATTCCCAAGGTCCCCGTCAGCTTTTGGAAGG GTTATGCCATTCTAGAGAAATTATAAATGTTCTTGGGGGTTGACCCATAG GTGAGCTGGGCATCCCTGTGCTCTTGGGAGCTGGAGCAGGCAGGAGGCCC ATCCTCCTGGGCACAGCCGCCATGGCTGCAGACCCAGGCATCTCTGCACT CTGGAGGGCTCAGGAAGGTTCCCCCACCCCCACAGGCTTGGAAGTGCTCG CTCCCACTGTCTGGCTTCTCCTCACTCTTGGCATCCACTCCAATCACAGA GAAAAGGGGAGTCTGGGCCCACGCACCTATCAACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	396	0.0025	-885	c.-51 others(11): Show c.-5143_-4259del		ZNF124	ENSG00000196418.13	transcript	ENST00000543802.3	protein_coding					4116		chr1	TogoVar
CDX2_chr13_27955918_27974315	27957639	TGGGCATG others(877): Show TGGGCATGGTGGCGGGTGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGTCAGCCGGGATCG CCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAGACAGCAGGTGATTCTTTTGGCCCAGTGTCACACAGCTAGC CCCACAGACATCTCTAAAACCTGCTTGGTTTGTTAAAATCATAGTGCACC CACTCCAAGAAGAGCAGGAGGCAAAAGGAAAAAGGCAAAGGAAAACTGAC TGAATGTAGGAGTTGTGGGGTTGAAAATTTGTGCAGTCTAAGTGTGATTA AGAGGATAAGTTAAATATTTACAAATTAATCTACATTACTCAGATATGAA TGTTTTTGTTATACTCTGAACAAAACCAATTTAATGCAAGATCTGCTGCC ATAATTTTACTGTAAGGGAGAATTCTGGAGATGAGAGTAAAACATTTTTC TTAAAACAACATCTAAGGATGAATCAGCCTTAGAGAATTTAATCCTCAGC AGCCTGAGGTACAGGTTTAATATGTTAAACCTGTACCTCATATTAAATCT GTACTCTTGGGGTGGCTCCTGAAGAGTACAGAATTAATATTGAGGTGTTG AGGTAGAAATTATCTCAAAATAAAGAAACTTTTAATGCCATCTAGTTAGA GTATCTGCCTGTCTGCTCCTTTTGGGTTAAGAGTGTGCTGATGGCCAGGC ACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCA GATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGTTAACATGGTGAAAC CCCGTCTCTACTAAATATACAAAAAAAAATTAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	416	0.0024	-884	c.45 others(11): Show c.4592_*5475del		CDX2	ENSG00000165556.10	transcript	ENST00000381020.8	protein_coding					3278		chr13	TogoVar
DHRSX_chrX_2214506_2505976	2277749	AGAGGGAG others(877): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAA GAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0027 a0003c0003t0005g0027	1	44	0.0227	-884	c.389 others(19): Show c.389-11686_389-10803del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
MTMR3_chr22_29878174_30035868	29940321	GTGAGATC others(877): Show GTGAGATCCACCCCCTGCCCACAAAAATTTGTTCCTAATTCCACTGCCTA TCCCAAACCTGTAAGAACTAATGATAATCCTACCACCCTTTGCTGAATCT TTTCTTGGACTCAGCCCGCCTGCACCCAGGTGAAACAAACAGCCTTGTTG CTCACACAAAGCCTGTTTGGTGGACTCTCTTCACACGGATGCGTGTGACA ATGACTGTACTTTTAACAGATGAGAAGTTTGATGGGAGTTGAAACTAGAA CTTTTTTTTTTCCTCCTGAATAGGAAAAATCGGAACATTCTTTAAGGTCC AGCTTTTCTCACCCTGCCCCACCTTTTTAAAAAAATTGTTGCTTATTGCC AATAGACTAGCAAGTGGTTGAACAGTTTCCTTGGCAAGAGGTGCCAGGTG ACTGACTAATGCCATCGTAAAGCACATGCCCTTGATCACATCATATGGAC TTGATCTCCTTGGAGGCTAATTATATTTAGGGACATTTTAGTACTTTCAA GGAACCTCAGACTTTGCTGAGGTTGAAAACACTGGTGACCTCCCTTTGGT TATAAGAGAGACCAGGAGTTCATATGCATTCCTTCAGAAAAATATTTGAA AAATATAACACTGACCTTGGGAGATTAGTGCATATGATCTTGATTTTATG ATCTTTTCTAGAGACACTGCACCACTGCAGCCACTGCCTCAATCATGATA CAGAACTTTTACATCACATGAGAAAGTTCCTTTATGCACCGCTTCTAGTT AGTCTTTCTCTGCCCTAATCCAAACTACTATTCTCTTTCCTATCACTAAA AATTAGTTTCGTCCTTGAACTTCATGTAAATGGAATCATACAATATTCTT TTCTAACTTGTTGCTTTGAGTCAACATCATGCTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02055.hp2 others(18): Show HG01243.hp1 HG01496.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0009 a0001c0002t0011 a0001c0002t0050 others(3): Show a0001c0002t0009 a0001c0002t0011 a0001c0002t0050 a0001c0002t0051 a0003c0004t0009 a0003c0004t0011	a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0244 others(18): Show a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0244 a0001c0002t0009g0245 a0001c0002t0009g0246 a0001c0002t0009g0247 a0001c0002t0009g0248 a0001c0002t0011g0055 a0001c0002t0011g0236 a0001c0002t0011g0237 a0001c0002t0011g0240 a0001c0002t0011g0241 a0001c0002t0011g0250 a0001c0002t0050g0206 a0001c0002t0051g0205 a0003c0004t0009g0233 a0003c0004t0009g0235 a0003c0004t0009g0249 a0003c0004t0011g0234 a0003c0004t0011g0238 a0003c0004t0011g0239	21	332	0.0633	-884	c.-13 others(21): Show c.-137-16709_-137-15826del		MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr22	TogoVar
NCOR1_chr17_16024157_16220534	16176541	CTGCAGGT others(877): Show CTGCAGGTGTGAGCCACCACGCCCGGCCTCTTTCAGTTTTAGATGCTATA ATTGCTCAGTGCTTTCATGTCTAAGAAAATCTGCCTGTTGTTTTTATTGT TAAACTGTCTGGTATAATATTCTTGAATATCAATTTCTTTTACTCAGAAC TTTGTAGCTACTGCTTCACTATTTTCTGTCACTCAATTCTGCTATGTAGA AGTTTGTAGCCTGACTCTTCCACCTTGTGGAGCATTTATTTTGTTTCCTG AATTCCTAGTTCTTTTACTTATCCTTGAAATTTAATTCCTCAACCATGAT CTGTCTTGGTATGGATCATTCTTTCTGTATAAATTTTCCTGGAACAAGAT ATGTTTTATCAATCTGTAGAATCTATCAATTCTTCCTTAACTTTATGGGG AATTTCTGTATTATGAATATTATTACTGTTCCTTTACCAGGTTTTCCACC TCAAAAACATGTTCTTATAGTATACTGGATGATCTTTATTTGTCCTCCCT ACAAGTTCTTTCTAATTGTCTTAATCTTTGTCCTTTTCTTCTGCACTCAC TCTAATTATATCAAGACTTTGTTCTAAGACAAGGTTTACCTTAAGCCACA TCTACTTTATTCCTTTTCTTTCTAATTTTATATCTTCAGGGCACTCAAAT GTCTGAACTACATTTAGCCCATCTGGCTGTCTTATCATTTTGTTTTTGAA TACTTCATTATTTAAGTTCTTTTATAGAAGAAATATAGAAATATAGAACT TATTTATATTATTAAGTTCTTTTATAGTGCATAGCACTTACGAGGCATGC TCTTTATGTTTCTTACACGTGGCGATTTTATTTTTGGCATACTATGTTGC TTTAATTTTCTTTTCCAGGAATATATTCGCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 HG01891.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0175 a0001c0001t0013g0176 a0001c0001t0013g0175 a0001c0001t0013g0176	2	280	0.0071	-884	c.243 others(17): Show c.243-5430_243-4547del		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	3/45						chr17	TogoVar
SLC35F3_chr1_233899676_234329511	233951116	AGTATGCC others(877): Show AGTATGCCTGGACATGGTAAATCAGGGTTTTGAAAGAACATAGAGTCATG CACCATGTAACAATGTTTTGTTCCATGATGGACTGCATATGCAATGATGC TGCCATAAGATTATACTGAAGCTGAAACGTTTCTATCACCTAGTGACATC ATAACTGTTGTAGCATGATTAGTTAGTGTAGCCTAAGTGTACAGTGTTTA TAAAGTCTCCAGTAGTGTACAGTAATGTTCTAGGCCTTCACGTTCACCCA CCACCCACTCACTGACTCACCCAGAGCAACTTCTAGTCCTGCAAGCTCCA TTCATGGTAAGTGCCCTCTACAGGTGTACCTTTCTTTAAAAAAAAAATCC ATTATACCATATTTTTTTCTGTACCTTTTCTTTGTTTAGATATGTTTAGA TGCATAAATACTTTTGTGCTATAATTGCCTACAGCAGGGGTTCCCAACTC CTGGGCCATGGACCAGTTCATAGCCTGTTAGGAATGGGGGTGCACCAGCA GGAGCAGTATTTAACTAGGATGTCTCAGAGCTGACTCTTCTGTGTCAGTT TCTCCTGGGATATTTTGTAACCTTTCCACATGTAGATGATTCTTCTTCTT CTTTTTGTGTGTGTGTGTGTTTTGTTTTGTTTTTTTGTTTTGAGAGAGAG ATGGGGTCTCACTATGTTGCCCAGGCTGATTCCTGGGCTCAAGTGATCCT CTCCCTTGGGCCTCCCAAAGTGCTGAGATTATAGGCATGAACCACCATGC CCAGCTATCAAGACTTCTTTTATGTCAAATATATTTTAAAATATTTACTT TGTTCATTATTTGAGTTTCTGTCCTCTGGGATTTCAATTATATATATGTT GGTTCTCCTTTGCCTGTCTTTCACATCTATCATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0026 a0001c0002t0007g0025 a0001c0002t0007g0026	2	158	0.0127	-884	c.283 others(19): Show c.283+45359_283+46242del		SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7						chr1	TogoVar
SMOC2_chr6_168436184_168672992	168560493	GGCCCTGA others(877): Show GGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGA GGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCT TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	171	0.0058	-884	c.637 others(19): Show c.637+11300_637+12183del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560505	TGAGGCTC others(877): Show TGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACC CTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAG GTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCT TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	163	0.0061	-884	c.637 others(19): Show c.637+11317_637+12200del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(877): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	158	0.0063	-884	c.637 others(19): Show c.637+11421_637+12304del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC77_chr12_396644_447642	420646	TACACATA others(876): Show TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTG CTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCA GCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAG CACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01496.hp1 others(12): Show HG01167.hp2 HG01169.hp1 HG01496.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0008 a0003c0003t0004 others(1): Show a0001c0001t0004 a0001c0001t0008 a0003c0003t0004 a0003c0003t0008	a0001c0001t0004g0093 a0001c0001t0004g0159 a0001c0001t0004g0160 others(12): Show a0001c0001t0004g0093 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0244 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0381 a0001c0001t0004g0397 a0001c0001t0004g0415 a0001c0001t0008g0177 a0003c0003t0004g0369 a0003c0003t0008g0247	15	236	0.0636	-883	c.413 others(17): Show c.413+2016_413+2898del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM151B_chr5_80483100_80547563	80546680	TAGAAAAT others(876): Show TAGAAAATTTTTGCAAAGAAGTTCAAATGCACAACATAATAGTTAAGTGC CACCTATTTTTTCCCTCTAAGTTGATGTCTAATATAGTGGTGTTGAGATC ACATATCATCCAAAGGCTATTTCTCAAGAGTGGTAGAGTAATCCTAATTC CAGAAGAGACTTTAATAAGAAAATCAATTGTTCAAAAATTCAAAGGCTTC TAATAAAGGGTAGCTTATTGTCCTGTAAGAGTGGTATAATTTGTTAATTA GCCAGGTATGTACTTATCCAGTGGGAAATGATTAAAAGTAATTTGGAACA GTTTGTAATTTGCTTGTTTGTTGGAGTTGGGGTCATGGGTTGTTGTTGTT TTTCTGTAATTACAAAGAAAATTAAGTACCTAGTCAATATATAGACAAAT GCTGTATCTCCGACCTTGTTATTTAGGGCAAGATCCAAGGGAGCTCCCAG ACCTCAGCAGCAAGAGCTCGGGCTCCAGTGTCCTAGTGTTTCACATCAGT GCCACTGTTACTTTTCATAGTAATTACCTCTTTATACCCATCAGCTTTTG GTCTGGGGAACCAGCTTGTCCAGCCACCTGTATCTTTCATGAGGGAATCT CATGTCAAGACGTCACAGCTCAGTAGGAACTTGGGGGGCAGATGGGGAGA GAAGGGGCAGGCATCTAAGCAATGTCTGATGTGCTCAGGCTGCGTGAATA ATTCCAAAATTGTCCCTATATGATTCAGAAATGGAGCTTACAGTAATCTA GTCATGGGAGAGAGACCCGTAAGTGATAAGTTGAATATTTGCTAAAACTC CTATGATGGAATAACACATGGCTTGCGGTATAGTCCCCAAAGAGACAGCA GTCTATTTTAACTGGGAGGGAACACGAGCTGTGT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	354	0.0028	-883	c.48 others(11): Show c.4849_*5731del		FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding					4118		chr5	TogoVar
PLXNA4_chr7_132118340_132581470	132562089	TCCTCCTT others(876): Show TCCTCCTTTCTCCTCCTCCTCCTTCTCTCCTTCTCCTCCTCCTTCTCTCC TTCTCCTCCTCCTTCTCTCCTTCTCCTCCTCCTCTTTCTCCTCCTCCTCC TTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCTTCCTCTTTCTCCTACTC CTCCTTCTCCTCCTCCTCCTCTTCTTTCTCTGCCTCCTTCTCCTCCTCCT CCTTCTCCTCCTTCTCCTCTTCCTCCTCTTCCTCCTCCTCTCTCTCCTCC TCCTTCTTCTCCTTCCTCCTCCTCCTCTGCCTCCTCCTCCTTCTCCTCCT CCTTCTGCTGCTCCTCCTCCTTCTCCTCCTTCTCCTACTCCTTTTCCTCT TCATCCTCCTCCTCCTTCTCCTCCTCCTCCTTTCTCCTCCTCCTTCTCTT CCTCTTTCTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTTCTCCTCT TTCTCCTCCTCCTCCTTCTCTTCCTCCTTTCTCCTCCTCCTTGTCTTCCT CTTTCTCCTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTTCTCCTCC TCTTTCTCCTCCTCCTCCTCCTTCTCTTCCTCCTCCTCCTCCTCTCCTCC TTTTCCTCCTCCTCCTTCACCTCCTCCTCCTTTTCCTCGTCCTCCTCCTT CTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTTTTCCTCCCCCTCTTCTT TCTCCACCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TTCTCTTCCTTTCTCCTCCTCCTCCTTCTCCTCCTCCTCTTCTTTCTCTG CCTCCTTCTCCCCCTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCTCCTCC TCTCCCTCCTCCTCCTCTCCCTCCTCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03927.hp2 HG03831.hp2 HG03927.hp2	a0001 a0005 a0001 a0005	a0001c0031 a0005c0015 a0001c0031 a0005c0015	a0001c0031t0002 a0005c0015t0001 a0001c0031t0002 a0005c0015t0001	a0001c0031t0002g0083 a0005c0015t0001g0084 a0001c0031t0002g0083 a0005c0015t0001g0084	2	86	0.0233	-883	c.-87 others(19): Show c.-87+13450_-87+14332del		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31						chr7	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(876): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCT CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(57): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02080.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03927.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18959.hp2 NA18962.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA19000.hp1 NA19007.hp2 NA19068.hp2 NA19070.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0007 a0001c0008t0001 a0001c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0037 others(56): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0004g0093 a0001c0001t0004g0100 a0001c0003t0001g0046 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0067 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0007g0185 a0001c0008t0001g0027 a0001c0008t0001g0028 a0001c0008t0001g0032 a0001c0024t0001g0175	60	279	0.2151	-883	c.136 others(19): Show c.1360+5965_1360+6847del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	62057812	CGGGGGGC others(876): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCA CAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACG GACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAAC CTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACA GACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCA GCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACA ATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACA GGCCTACACACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	287	0.0035	-883	c.136 others(19): Show c.1360+5756_1360+6638del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
ACTN2_chr1_236681499_236769631	236755707	TGTTAGAA others(875): Show TGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAAC CGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACC CTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCC TGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCT GGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTG GTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGG TTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGT AATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0024 a0005c0017t0024	a0005c0017t0024g0100 a0005c0017t0024g0100	1	314	0.0032	-882	c.215 others(17): Show c.2154+524_2155-883del		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CPM_chr12_68846175_68938171	68854950	AGGTTCAA others(875): Show AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAG GCATGCACCACCACGCCCGACTAATTTTTTTTTTTTTTTTAGTAGAGATG GGGTTTCACCATGTTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTGA TCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACC ATGCCTGGCCAACACCAACCTTTAGTTACTTGCTGAATACACAGGATTAA GGAGGAAGAGAAAGTATCAAGGATGACTCCCAGGTTCCTAGCTTGGTGGT CCCAGTAATTGAGAGAGAGAATGCAGCAGGAAGAGCAGCTCTAGGGGGAA CAGGATGAGTATCTCCACATGATGGGTTGGAGGTACCTGTGAGTCACATC CAGGTGGATGTGTCCTGTGGGCAGTGGGACGCGAGTCTGAAGCTCAGGCA AGAGGCTAGAGTTACATCTTTGGAGTCATCAGCCTAATGGAGGACTGTGG CATCCAGGTGCCAAAAGCTAGGGAAACGGCTCTGGAGAGAGAGGGGCTTT CTTAATTGACCTGTATGCTTTGAAGCTCTATAGAGACACAATCTTATCCC TTCAGGCCTGTATTTTCTTGGGCCACTAAGATGTGGTTACATATTTTCTC TCACATCTCCTAGAACGTTTGCAAAACAATTCCCAGTCCTATGATCATTT CTCCCTTCTTCTGAGAACTAATTATATATGGCACTTAATATCTATTCACA TGTAGCACTCATGGTGAGGTGTTTTTTTTGTTTGTTTGTTTTTGTTTTTT TTTTTTTGAGACAGAGTCTTACTCTGTTGCCCAAGCTGGAGTACAATGGC ACTATCTCGGCTCACTGCAAACTCCGCCTCTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0043 a0001c0006t0043	a0001c0006t0043g0217 a0001c0006t0043g0217	1	338	0.0030	-882	c.60 others(10): Show c.605_*1486del		CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	9/9				605		chr12	TogoVar
GP1BB_chr22_19718539_19729771	19725632	GGCGGTGA others(875): Show GGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGA CATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACAC TGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCT GTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGG TGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCT GTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGG CGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCT GTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGG TGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGT GAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTC GGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGA GGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTC GGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGA GGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTG GACGCGATGAGGACGCTGTGGACGCTGTGAGGACGCTGTGGGGGCGGTGA GGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTG GGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGA GGGAGCTGTCAGGGCGGTGAGGACGCTGTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-882	c.11 others(11): Show c.1169_*2050del		GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding					862		chr22	TogoVar
IRS2_chr13_109747695_109791583	109765935	CTCCTCCC others(875): Show CTCCTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCC GACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCG ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAA CTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCGAC TCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACT CCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTC CCCACCAAACATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCC CCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCC CACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCC ACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCA CCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCAC CAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCGACTCCCCACC AAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCCACCA AGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAA GCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAA CATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGC ATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCA TGTAGATATCCCAGCCTCATCCACCTTGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01069.hp1 others(11): Show HG00438.hp2 HG00738.hp1 HG01069.hp1 HG02523.hp2 HG02735.hp1 NA18940.hp2 NA18950.hp1 NA18953.hp2 NA18963.hp2 NA18980.hp2 NA18984.hp1 NA19011.hp2 NA19057.hp1 NA19080.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0002c0002t0002 a0004c0006t0002	a0001c0001t0001g0118 a0001c0001t0002g0064 a0001c0001t0002g0065 others(9): Show a0001c0001t0001g0118 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0016g0097 a0002c0002t0002g0014 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0234 a0004c0006t0002g0184	14	396	0.0354	-882	c.401 others(20): Show c.4013-10509_4013-9628del		IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1						chr13	TogoVar
RCAN2_chr6_46215736_46496449	46444788	CACAGAGC others(875): Show CACAGAGCTAGGCTCCAGGACCACCCCTTGGACCCAGATACCAGGACAGC ACCTGTGGCCCCAAGACCCAGGCCTCCCTTCATGTACTTAGCCTCTAGGC CAACAGCTGCATATCCGGCCCCCAGGCTCCACACTTGTCCCAGGTTCCAC ACTTGTCCTAGCAACAGGGCAGCCCCAGGCCCTTGGCCAGTTCCAGTGTC CCCGGGCTCCAGTTGACACAGGGTCCAGGCCTACCACAGTGCCAGGCCAG TCCCTGTGGACTCAGACTTCAGCAATGTCCCAGTGAACCTAGAAACCAGG TCCATACCAGCACCTAGCCAGCCCCTAGAAAGCCTCTTCAGACTCAGACT CAAAGACCACCCCTGCACCAGGTCAGCCTCTATAAACCCAGGCTTCAGGC CAGCTTCTATAGACTCAGGCTCTAGGCCTGTCCTTATGGACATAGGCTCT AGGTCCACCCCCATAGAACCAATCAATACGTTTATCCCAGTAGATCCAGG CTCCAGGCCTAACCCTATGGACTCAAGCACCAGGCCTGCCCACCTGCTGA CCCAGGCACCAGGATAGCCTGCCCAAGGACTCAAGCAGCAAGTTCACCCA TGGACCATGCCAGACCAGCTGCTGAGAATCTCTAGATGAGCTGACTAGTA AAGGACTTCCCCAGACAAAGCCAGTCCAAAAAGACAGGAATAAGTCCCTA CTTCTTCAAATGCATAGAAACTAATACACAGTCACAAGAATTAGAAACAA TCAGGGAAACGTGACAGCATCAAAGGAATAAAATAAAGCACCAATAACCA CCCTCAAAATAAAGATTTGTAAGCTGCCTGACAAAGAATTCAAAATAATT GCTTTAAGAAAGCTCACAAAAATATAATAACAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	158	0.0063	-882	c.225 others(19): Show c.225+11082_225+11963del		RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4						chr6	TogoVar
SEPTIN5_chr22_19709503_19728319	19725632	GGCGGTGA others(875): Show GGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGA CATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACAC TGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCT GTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGG TGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCT GTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGG CGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCT GTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGG TGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGT GAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTC GGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGA GGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTC GGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGA GGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTG GACGCGATGAGGACGCTGTGGACGCTGTGAGGACGCTGTGGGGGCGGTGA GGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTG GGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGA GGGAGCTGTCAGGGCGGTGAGGACGCTGTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-882	c.31 others(11): Show c.3149_*4030del		SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding					2314		chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79920964	GGAACCGA others(875): Show GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAG ATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAA CCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGA GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGA GAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCA GTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	336	0.0030	-882	c.392 others(17): Show c.392-2446_392-1565del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TXNRD2_chr22_19870522_19946818	19925001	GGGGCCAG others(875): Show GGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGGGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGCGAAGCCCCGTTTCTACTAAAATCACAAAAAATTAGACGGGCATGGTG GCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGC GCAAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCAC TCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAACAAAACAAAAC AAAACAACAACAACAAAAAAGAAGGCAAAATAAAGACGTTTTCAGACATA CAAAAGCTGAGAGAATTCATTACCCCCAGAGCCATATTACAAGAAATGCT AAAGGATGCCCTTAAGGTAGAAGAAAAATACCAGATGGAAATGTGGATCC TCACAAAGGAATGAAGAGCACAGAAATACAATGGGTGAGTATGTGAGATT TTCTCACACGATTTAAGTATATTTTAAACAAAAATAATAATGATGTATCA TGGATTTATAACATGTAACAGTAAACACATGATATAATAACATAGAATGA AGGTTAGGAGGGGTGGAATAGATGTATGCTTTTTTAAGGGTAGACTGGCA AGTTAAGGTACATGCCATAAACCCTAAAGCAACTCAAAATAAATCAAAGA CCTAACTGTAAGAGCTTGAACTATAAAATGCTTAGAAGAAAACACAGGTG TAAATCTTTGTGATCTTGGATTTCTTAGCTATGATACCAAAATCATAAGC AACAAAGGAAAAAAATAGATAAATTAGGACTTCACCAAAATTTAAAACTT TTGTGGCACAAAGGATACCATCAAGAAAGTGCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0002 a0004c0035t0002	a0004c0035t0002g0273 a0004c0035t0002g0273	1	370	0.0027	-882	c.172 others(17): Show c.172+5147_173-5403del		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	2/17						chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19925007	AGGCATGG others(875): Show AGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGG GGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGCGAA GCCCCGTTTCTACTAAAATCACAAAAAATTAGACGGGCATGGTGGCATGC GCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGCAAAC CCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGC CTGGGCGACAGAGCAAGACTCCATCTCAAAAAACAAAACAAAACAAAACA ACAACAACAAAAAAGAAGGCAAAATAAAGACGTTTTCAGACATACAAAAG CTGAGAGAATTCATTACCCCCAGAGCCATATTACAAGAAATGCTAAAGGA TGCCCTTAAGGTAGAAGAAAAATACCAGATGGAAATGTGGATCCTCACAA AGGAATGAAGAGCACAGAAATACAATGGGTGAGTATGTGAGATTTTCTCA CACGATTTAAGTATATTTTAAACAAAAATAATAATGATGTATCATGGATT TATAACATGTAACAGTAAACACATGATATAATAACATAGAATGAAGGTTA GGAGGGGTGGAATAGATGTATGCTTTTTTAAGGGTAGACTGGCAAGTTAA GGTACATGCCATAAACCCTAAAGCAACTCAAAATAAATCAAAGACCTAAC TGTAAGAGCTTGAACTATAAAATGCTTAGAAGAAAACACAGGTGTAAATC TTTGTGATCTTGGATTTCTTAGCTATGATACCAAAATCATAAGCAACAAA GGAAAAAAATAGATAAATTAGGACTTCACCAAAATTTAAAACTTTTGTGG CACAAAGGATACCATCAAGAAAGTGCAGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02055.hp1 HG02717.hp1 others(3): Show HG01070.hp1 HG02055.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0018 a0003c0003 a0003c0006 a0003c0018	a0003c0003t0001 a0003c0006t0002 a0003c0006t0003 others(1): Show a0003c0003t0001 a0003c0006t0002 a0003c0006t0003 a0003c0018t0002	a0003c0003t0001g0318 a0003c0003t0001g0326 a0003c0006t0002g0296 others(3): Show a0003c0003t0001g0318 a0003c0003t0001g0326 a0003c0006t0002g0296 a0003c0006t0003g0315 a0003c0006t0003g0317 a0003c0018t0002g0325	6	370	0.0162	-882	c.172 others(17): Show c.172+5141_173-5409del		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	2/17						chr22	TogoVar
ULBP2_chr6_149937014_149954235	149943635	AGGCCTTC others(875): Show AGGCCTTCAGCAATAGGCATCCCTAAGCTTCATTCCATTCTGGTGCCTTG TCATGGGCCTTCTTTATATGCATGGCAAAAGGCCCCATCTCTGCCAAGGT GCAGTACTCTACAGGAGCCACTGCTTAATGTTGCGATTTCCTTGCTGTGA GTGGCATTGCCTTGTCTCTGAATATTCACATGGAATCTCTGTTGTGATTC TCCAATTAGACATTGTGACCACATGTACCTCTAGGGTCTTAGGGGGTCTT GGGTCATTGGGCACTTAAGGTAGGTCCAGCCTCGCTCATCATGCATGGAT TGTCTATGGCTGCTTTTGAACTTCAACAGCAGAGTTGAGTAGTTACAATG GAGAATATATTCCCTGCACACCTTTACATGTTTACAAAATTGCCCTTCAC AGCAAACTCTACTGGCCATAAATATCTTTGGAGAAGGCCACAAGGACTCA CTGTCCTGGCTGCAGGGTTAAAGGGTCCTTCCTCACTAGAAACTGGTGTC TTCTTCTAGTCATGGGTTCAGGGTCTGAGAAGTGGCTTCATTCTGCAAAT TAGGCAAAGCAGCCTCGTTCTTGATGGACTGGCTACTTTCAGCCTCCTGA TTTGGTTTATCTCTGTTTCTTGTAATTATTTAAATCCAGCAGTATCTGGG GTGGGTTTGCATCTCTTTTGGACCTTGGACCCCTTTGTTCTATGAGCCAT GGGCATAACTTTGTATAACTGAGGTCCCCAGCTGGCATTGTGACTTCTCT AATCATTTCCATCATTGCACCCTCCTTGCTCCTGACAGTTGACAGCCTCC ACCTGGAATTTGGAATTTCAGAATTGTTCATCCCATTACTCTGGGAGCAG ATTTCAGGAACAGCATCTCCTACCCCCAACCCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03471.hp1 HG02895.hp1 HG02896.hp2 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0059 a0001c0007t0001g0105 a0001c0007t0001g0106 a0001c0007t0001g0059 a0001c0007t0001g0105 a0001c0007t0001g0106	3	444	0.0068	-882	c.85+ others(14): Show c.85+1527_86-744del		ULBP2	ENSG00000131015.5	transcript	ENST00000367351.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
CHCHD3_chr7_132779870_133087090	132984898	TGGGGGGG others(874): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCC GGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGAAGGGAGGTGGGGGGGTTAGCCCCCCGTCCGGCC AGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCCGTCCGGAAGGGAG GTGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGG GAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCTCCCGGCCAGCCGCCCCATCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGAGGGGAGGTCAGCCCCCC ACCCGGCCAGCCACCCCGTCCGGGAGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(136): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(136): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0005g0308 a0001c0001t0006g0310 a0002c0002t0001g0248	139	306	0.4542	-881	c.252 others(18): Show c.252-10493_252-9613del		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
SRGAP2B_chr1_144882288_145100328	144883001	AGGGGGCA others(874): Show AGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGGGCGGGGGGCAAA AAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCAAAAAGCCGGGTC TGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCAGAAAGCCATGGC GGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCGGCGGGGGGGCAA AAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTGCAAAAAGCCGCT GCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGCCGGGTCGGG CAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCCACAGCGGCGCGGGGGAA AAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGGGAAAAAGCCGCGG CGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAAGCTGCGGTGGC GGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGGTGGCGGGGAACAA AAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGCGGGCAAAACCCCG AGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAAGCCGGGGCGGGCA AAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCGGGTAAAAAGCCGC GGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAAAAGCCGCGGTGGGCATA AACCCGAGGCGGCGGGGGGGGGGGGGTGCAAAAAACCGCCGTGGGGAAAA AGCCGCGGCGGTGGGGGGCAAAATCCCGCGGCGGGCAAAAAGCCGCGGCG GCGAGGGGGGTCACAACAAAGCCGCGGCGGGCAAAAAGCCGAGGCGGGGT GGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	53	0.0189	-881	c.82 others(11): Show c.8278_*9158del		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4286		chr1	TogoVar
CHCHD3_chr7_132779870_133087090	132984861	CCCCCCAC others(873): Show CCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCC GTCTGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGAAGGGAGGTGGGGGGGTTAGCCCCCCGTCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG TCCCTCTGCCCGGCCAGCCGCCCCGTCCGGAAGGGAGGTGGGGGGGTTAG CCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTA TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGT CAGCCCCCGGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCTCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGAGGGGAGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	308	0.0032	-880	c.252 others(18): Show c.252-10455_252-9576del		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHEK2_chr22_28682743_28746820	28691294	ACATGGTG others(873): Show ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGATGG TGGCAGGCACCTGTAATCCCAGCCACTTGGGAGGCTGATGCAGGAGAATC ACTTGAACCCAGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCATTGCA CTCCAGCCTGGTAGACAAAAGCAAGACTCCATCTCAAAAAAGGAAATAAA TAAATAAACATTGATTTTCTTCATGATGTCTACAATTATTCCAAAATATT AAATTAGCCAGGAACAGTGGCTCGTGCCTATTATCCAAGCACTTTGTGAG GCTGAGGCGGGAGGATCCCTTAAGGCCAGGAGATCAAGGCTGCAGTGAGC TATAATTGCACCAGTGCACTCCAGTTTAGGCAACAGAAGAAGACCTTGTC TCCAACAGTAAATAAAATAAAAATTAAATTGTAATATCCCTTGAAAGTAA ACAGAAGAAATCCTCTATTTCAGGCAGTAAATATGAGGCAGAGAGTAGAT GTAAGGGATGCTCCCAAAACTGGGCACTCTGTTAATGACAAAACAGAGAC CAGAATCCACATTCCCAACACTCAGTTCAGCGACAGACCCACAAAACCAT TTGGTTTTTTCAAAAACACTGAATTTTCCCAAAATAAAACCCAAACTATC ACTAACAGATGTTTTAGATGGTCAGTCTTCATCCTTGTCTTCATTCAATG CTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCC AGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAAT AAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTC ATAAATTTCAGGCAGATGCAAACCCTGTTCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	382	0.0026	-880	c.146 others(19): Show c.1461+1858_1462-2080del		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	13/14						chr22	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(873): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02630.hp2 others(11): Show HG01884.hp1 HG02280.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0002c0003t0003 a0002c0003t0005 a0004c0006t0003	a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0142 others(11): Show a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0003g0166 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0133 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0008 a0002c0002t0001g0141 a0002c0003t0003g0158 a0002c0003t0005g0066 a0004c0006t0003g0128	14	199	0.0704	-880	c.362 others(19): Show c.362-88807_362-87928del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395775	TGTCCTCC others(873): Show TGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCTGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCC GGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCT TGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCG CTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCC CGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTC GGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCC GAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTC CAAACGTCCAGGCTTGGTTCCGGCCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0061 a0003c0004t0002g0061	1	236	0.0042	-880	c.362 others(19): Show c.362-89736_362-88857del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL6A5_chr3_130340672_130489846	130413180	CTCCCATG others(873): Show CTCCCATGGGAAGGCTCTGATTAGCAGACAGTGCTTTTTGGGATTTGCCG GAGAGGGAAATACAGGAGACAGGATCTTCAGGATGATTTGATTCTCTAAA CAGCCTCCTGGATAATTGTTAGAGGCTGTCAGACTGGAGCTGGGTCTGTA ATGACTTTTAGATTAGTTTGCAATCAGTCCCCCAAATGTTAGTCTCTAAT TAAGTGCCCAGTGTGAAAGCTTGTCTATGGAAAATGCCTCAGGGAAACTG TTTCTGTGAGCTGCTCATTACTTATGTCTAGCAGAGAATGAAAGAGGCTG ATTTGCCTCAAGGAACCCCTCCATTCAGACATCCACATACTAACAGTTTG CCTTTTCTGTCCCAGGGAAGAGAAGGTCAAAGGGGACTCCGAGGTGTCTC AGTAAGTAACCTTGACTTCCTGTTCTCTGTGGTTGATGGGACCAAGGAGG TTTCTCCCATGTAGGTGGTGCTGGGAATCATATCAATGAGCATTTTACAA GGGTATAGGAAGTGCCCAGTACTGGACGTGATCCCCACTGACCCAATAAT CACTGCAGCTCCCGGGAACAGAACAGACCTAAGGAAAAGCCTCCCTGATA GATACCTGGCAGACAGGCAGAACCTGTGCAATTCCAAATATTGTGCATTT GACTGCTCTTCATGTGCTTTGGGAATCAACTTCAAGAGAGAGAAATTCCT TATTGGAGTAAGAAACAAGTTTATGTTCATTCCTTAGACAGTCTAGAACT GTAAAATCCTAGGCCAAGTAGAGGGTGAGCCACAAGTCAGACAAAATAGT ACCTATTTCTGATGTAAATAGTATGAAAAGAAAATCTATATGGAAACAAC GTGTAGAAATGCTTGACACTGGAAACTCTTG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp2 HG01515.hp1 HG00642.hp2 HG01515.hp1	a0026 a0026	a0026c0089 a0026c0090 a0026c0089 a0026c0090	a0026c0089t0002 a0026c0090t0002 a0026c0089t0002 a0026c0090t0002	a0026c0089t0002g0198 a0026c0090t0002g0276 a0026c0089t0002g0198 a0026c0090t0002g0276	2	290	0.0069	-880	c.466 others(15): Show c.4663-363_4699-8del		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41					INFO_REALIGN_3_PRIME	chr3	TogoVar
DHRSX_chrX_2214506_2505976	2279451	AGAGGAGG others(873): Show AGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAG GAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	48	0.0208	-880	c.388 others(19): Show c.388+11171_388+12050del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2713078	CCCTCACT others(873): Show CCCTCACTTTCTACACCCACCACCTCCTCCACCCTTCCTCCCATCCCTCA CTTCCTCCACCCATCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCT ACACCCATCGCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCC ATCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTT CATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTAATGCCATCTCT CACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCATCACTGT CTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCAC GCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTAC ACCCACCACCTCCTCCACCCTTCATCCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0085 a0001c0002t0048g0085	1	408	0.0025	-880	c.32 others(11): Show c.3252_*4131del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					1488		chr19	TogoVar
LMF1_chr16_848634_975984	953163	GCACGTCC others(873): Show GCACGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACAC GGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	252	0.0040	-880	c.503 others(16): Show c.503+314_503+1193del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
MXRA8_chr1_1347691_1363555	1349974	TGGGAGGA others(873): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	89	0.0112	-880	c.27 others(11): Show c.2750_*3629del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2716		chr1	TogoVar
PGLYRP2_chr19_15463645_15484501	15472355	CGAGGTGG others(873): Show CGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAA CATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATCAACCAGGCATGG TGGCACATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCATGAGACAA CTTGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCTAT TGCACACCAGCCTGGGTGACAGAGCAAGACTCTGTCCCCCCCAAAAAAAA ATTGGAGGTGGGGGCAGGCATGGTGGCTCACTCCTGTAATCAATCCCACA CTTTGGGAGGCGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCAAGACCA GCCTGGGCAACATAGTGAGACCTCATTTTCTAGAAAAAGAGAAATCAGAT TTCCCAAAGCAATCTACAGATTCAATGCAATCTCTATCAAAATATCAAAG TCATTTTTCACAGAATTAGACAAAACTATCCTGAAATTCGCAAGGAACCA AAAATGAGCCCAAATAGCAAAAGCAATTCTAAGCAAAACGAGCCTGGTAT CACATTACCTGACTTCAAATTATACTACAATACTATAGTAACCAAAACAG CATGGTACTGTTACAAAAATAGACACATAGACCAATGGAATGAAATAGAG AACCCAGAAGTAAAGCTGCACACCTACAAACAATAATTTTCAACTAAGTC GACAAAAATAAGCAATGGGAAAAGGACTGCCTATTCAGTAAATGGTGCTA ATGGTGCTGGGACAACTGGCCAACCATATGCAGAAGAATGAAACTGGACC CCTAACTCTTACCATATACAAAAATTAACTCAAGGACAGATGCGCTAGCT CACGCCTGTAATCCCAGCAATTTTGGAGGCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	380	0.0026	-880	c.113 others(18): Show c.1133-1135_1133-256del		PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	2/4						chr19	TogoVar
PLIN3_chr19_4833341_4872667	4835478	GCCCAGCT others(873): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGG CCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCTGTTT TCCACTTTTGCACACATATCCACAGATCCGTGATCATGATACTGAATATT CTTCGATCTGATTTTCCTTTTTAATTCGCATAGGCCAGAGTTCAGCAAAC TGTTTGTTGTAAAGGACCAGACAATAAATACTTTCGGCTGGGCGTGGTGG TTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACA GTGTCAGGAGATCGAAACCATCCTGGCTAAAGCGGTGAAACCCCGTCTCT ACTAAAAGTACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGAAGTCC CAGTTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGG TGCGGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCTA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTTACTGTATTCCATTGT CAATATATCTTTGACACTTTCACAAGTCAACATATGTGTCATGTATGATA TTCCAAAACAGGCATTGCTACCTTAAAATGTGGTGGTTATAAGCACCGTG GAGAGAACTTGACTCTTTGAGTCCAATTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGTTCAC TGCAACCTTTGCATCCTGGGCTAAGTGATTCTTGTGCCTCAGACTCCCCA GTAGCTGGGATTACAGGTGTGTGCCACCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA19001.hp1 NA18943.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0199 a0001c0003t0001g0229 a0001c0002t0001g0199 a0001c0003t0001g0229	2	444	0.0045	-880	c.28 others(11): Show c.2834_*3713del		PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding					2862		chr19	TogoVar
RPL27_chr17_42993419_43007959	43001380	CTTTGGGA others(873): Show CTTTGGGAGGCCGAGGCAGGTGGATCGCTTGAGGTCAGGAGTTCGAGACC AACCTGGCCAACGTGATGAAATCTCATCTCTACTAAAAAAAATTAGCTGG GCATGGTGGCTGGCACATGTAATCCCAGCTATTCCGGAGGCTGAGGTGGG AGAATCGCTTGAGTTTGGGAGGTGGAGGCTACAGTGAGCTGAGATGGCAC CACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAA AAATAATAATAAAAGGGCAGAGAGAGCTGTTTCTTGGGTGCTGGGATGTG GTGGGGTTGAGGCAGCTAGTGTTTGGGCTGTCATGAGAGTGACTGCATTG GCAGAACTTGAACAATAAGGAAATGATTTCAAGTAGAAAGTTAGCTAACT GTCATGATGAAAGTCAAGAAGGCCTAATTTGGCCGGGCACAGTGGCTCAG GCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACGAGATC AGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGA AAGTACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTAGTCCCA GCTACTCGCAAGGCTGAGGCAGGAGAAGGGCGTGAACCTAGGAGGCGGAG GTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGCG AGACTGTGTCTCAAAAAGTGGGGGAGGGCCTCATTTGATGATTCTTAGCT AGAAAAATAAAGTAGTTGTGGGAAATTGAGAATGAAACATTGAATTTTAC ATTTTATTGGCTTGAATCCAATAAATGTTAAAAGTGAATTTTCAGGCCGG ATGCGGTGACTCACGCCTATAATCCCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 NA18522.hp1 others(1): Show HG02615.hp1 HG03041.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	4	354	0.0113	-880	c.252 others(16): Show c.252-1281_252-402del		RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC7A1_chr13_29504414_29600688	29558318	TGAATGTG others(873): Show TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGA ATGAGGGGGAGAGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGA GTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGG AGAGAATGTGAATGAGGGGGAGAGAATGTGAGTGATGGGGAGAGAATGTG AGTGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGG AGTGAATGTGAATGAGGGGGAGAGAATGTGAGTGAGCGGGAGAGAATGTG AGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGG GAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAG TGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAG TGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGA ATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGAGAATGTGAGTGAGGGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	321	0.0031	-880	c.-11 others(19): Show c.-114-5338_-114-4459del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
TICAM1_chr19_4810932_4836712	4835478	GCCCAGCT others(873): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGG CCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCTGTTT TCCACTTTTGCACACATATCCACAGATCCGTGATCATGATACTGAATATT CTTCGATCTGATTTTCCTTTTTAATTCGCATAGGCCAGAGTTCAGCAAAC TGTTTGTTGTAAAGGACCAGACAATAAATACTTTCGGCTGGGCGTGGTGG TTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACA GTGTCAGGAGATCGAAACCATCCTGGCTAAAGCGGTGAAACCCCGTCTCT ACTAAAAGTACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGAAGTCC CAGTTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGG TGCGGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCTA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTTACTGTATTCCATTGT CAATATATCTTTGACACTTTCACAAGTCAACATATGTGTCATGTATGATA TTCCAAAACAGGCATTGCTACCTTAAAATGTGGTGGTTATAAGCACCGTG GAGAGAACTTGACTCTTTGAGTCCAATTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGTTCAC TGCAACCTTTGCATCCTGGGCTAAGTGATTCTTGTGCCTCAGACTCCCCA GTAGCTGGGATTACAGGTGTGTGCCACCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19003.hp1 NA19001.hp2 NA19003.hp1	a0002 a0002	a0002c0004 a0002c0010 a0002c0004 a0002c0010	a0002c0004t0003 a0002c0010t0003 a0002c0004t0003 a0002c0010t0003	a0002c0004t0003g0007 a0002c0010t0003g0187 a0002c0004t0003g0007 a0002c0010t0003g0187	2	410	0.0049	-880	c.-48 others(11): Show c.-4884_-4005del		TICAM1	ENSG00000127666.11	transcript	ENST00000248244.6	protein_coding					3767		chr19	TogoVar

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