Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF346_chr5_177017696_177072985	177068042	AATGGAGA others(1223): Show AATGGAGAGTAGAATCCAGTTCTCTAGACTTCCTCTGGAACCCTTTATGA GTGAGGACCAGAGTACCTCCCACATGGCCCCTGCAGCCTGCCTCACCCAT CTCCTGTCAGTGCCATGGTCTCACAGGGTGAGCAGCCACTCAGGGCAGGG GCAGCACCCACAAAACAGATGAGACAAGGCTCAATGTTTATATTCCAAGT CCCTCCATTTTTCTCATAATTTTGTCCATTCCCATGATCCCAGTGTAGTA GACTCTAATTATTAAAGTGTTAGAAACCCAAATCAAAGCGATTAGCTAAA AAGGTAAATGTATTGATTCACTTAATGAAAAATCCACATACAATGATAGC TGGACCCAGACTCGGAGATGGTCTCATCAGGAAGAATTGTCTATCCCTCT GCTTTCCTCTGTGTGCCCTTTCTCAGGCAAGCTCTCTCCAAGAGGTGCCA AGGTGGCCACTGGCAGCCCCAGGCTTCTATCCTGATACGTTAGTAACAAC AGTGGAAAGAACACCTTTCTCCACTAGTTCCAACAAAATATCTGGGATTG CCTCAACTGGTTTAGTCCTGTTCTCATCCCTGAATTAATCATTGTGGCTA GGGGAAAAGGCACTCTGATTTGGGGCCTGGGTCATGTGCCTAAAGCTGAG TCAGCTCCACCTAAAACATTGAGAGAGGGAGTGATACAACCCCAAAAGAA GAAGGTTGTAGGGCTCTTTCCAGATTAAGGGGGAATGGATGCAGGGGGAG GGGGACAAAAACAACTGTGCACTATACCCAGAAATTGTTTAACTGTTTCC TTTTTTTCTCTAACTTTTTGAGGTACACCATACATTCAGTAATGTGCACC AATTTTAGACTTCAGTTTGATGAATCCTCACTTACATGTATACATTGGGG CAGTCACCCTCCAGATCAAGATACAGAACATTGCCAGGTCCCTAAAACAT TCCCTCATTTCCCCTCCTAGTCAGTATCCCCCAGAAGCAACCACTATTTT GACCTCGATCATTATAGATTAGTTTTGCTTGCTCTTGAGTTTTATAAAAA TGGAATCATACATTTTGCACAATATTAGTTTGTGGAATTCACCCATGTTA CTGTATGTCTCAGAAGTTCAGTTTTTTTTTTTCAGCCAGGCGCAGTGGCT CATGCCTGTAATCCCAGCTCTTTGGGAGGCCGAGGCGGGCGCATCACTTG AGGTCAGGAGTTCCAGACCAGCCTAGCCAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG01099.hp2 others(47): Show HG00673.hp1 HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18971.hp2 NA18982.hp1 NA18994.hp1 NA19012.hp1 NA19030.hp2 NA19088.hp1 NA19089.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0284 others(45): Show a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0315 a0001c0001t0004g0322 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0215 a0001c0001t0005g0299 a0001c0001t0020g0289 a0001c0001t0032g0139 a0001c0001t0033g0316 a0001c0001t0034g0140 a0001c0001t0035g0303 a0001c0001t0036g0314 a0001c0001t0037g0309 a0001c0001t0038g0301	50	348	0.1437	-1230	c.34 others(11): Show c.3444_*4673del	ZNF346	ENSG00000113761.12	transcript	ENST00000358149.8	protein_coding		58		chr5	TogoVar
BOK_chr2_241553745_241579131	241566688	AGCTGGCC others(1221): Show AGCTGGCCCCTGGCAGACTCCAGCCCTTTTCCTGCCACCTCAACCTGTGA AATACGCCAGACACAAAATGAACAAGCCGTGTGATTACACTTATGTGAAA TTTTCAGGGTAGGTAAATCTACAGAGACAGAAAGTAAGATGAGTGGCTGC CAGGGGCTGTCGGTGAAATAGGGAGTGACTGCTAGTGGGCATGGGGTTTC TCGTGGGATGATGAAAATGTTCTAGAATTAGATAGAGGTGATGGTTGCAC AGCTTTGTGAATATGCTCAAAGATATCCCACTTTTAAAAGATTAATTTTA TGGTAATGGAATTATATCAGTTAAAAAGACACAGAAGAGCTGGAAGGACA CAGTGGACGCCGAGGCTGGTGCCTCCGGACTCCTGTCTTCCTGTCTTTCT TTCCCATCCACCCCTCTGGAGTGGAAATGTTGCCATCACTCGGAACATAG TATGTTCTTTTTTTTTTTTTTAATTTTTGCTCTTTTGCCGAGGCTGGAAT GAAGAGTTGTGATCTTGCAACCTCCGCCACCCGGGTTCAAGCGATTCTCC TGCTTCACCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCTT GGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG GCTGATCTTGAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCCCC AAGTGCTAGGATTATAGGCATGAGCCACCGCACCCAGCGTGGAATGCACT GTTCTGATGGAACCGGACACCTCAGAACAGGTTGTCCCGCAAGCCACACG CAGTGCTGACATCAGGCTCCGCTCCCCGCATGGCCGTGCCCTTGAAGGAG GAACAGCCCCACGTGCTGGGGAAGTGCAGCGGGTAGAGCAGGGGCTGTGC CGGGTGTGCGCATCCCACCAATGACAAGGGCACCTTCGAGGTTGGGGTGG CAGGAAAAGGGCTGGAGTCTGCCAGGGGCCAGCTCAGCTGGGAATTCAAA CTTGGGTTTACTTTGAAGGACACGGGAAGTCACAGCAACACGAGAGCTTT ATGCAGGGGAGTGACATGGTCTGAGTTGTGTTTTTCCCCATTTCTTTTAA TTGACGTTAAACTCACATGACATAATTATCCACTTAAAAGTGTGCAATTC AGCAGCATCTGCCACATTCCCAGTGTGGAGCAGCCACCAGCTACTAGTCT CAGGAGGTCTTTATCACCCCAGAATGCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(184): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19059.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0007t0030 a0005c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0003g0201 a0001c0001t0003g0214 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0030 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0005g0044 a0001c0001t0005g0049 a0001c0001t0005g0200 a0001c0001t0006g0004 a0001c0001t0006g0203 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0236 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0007g0008 a0001c0001t0007g0056 a0001c0001t0007g0165 a0001c0001t0007g0217 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0008g0018 a0001c0001t0008g0166 a0001c0001t0008g0167 a0001c0001t0008g0168 a0001c0001t0009g0235 a0001c0001t0011g0080 a0001c0001t0012g0084 a0001c0001t0012g0095 a0001c0001t0012g0098 a0001c0001t0012g0100 a0001c0001t0012g0108 a0001c0001t0015g0162 a0001c0001t0015g0241 a0001c0001t0015g0242 a0001c0001t0016g0009 a0001c0001t0017g0086 a0001c0001t0017g0090 a0001c0001t0017g0106 a0001c0001t0022g0052 a0001c0001t0023g0206 a0001c0001t0027g0153 a0001c0001t0028g0051 a0001c0001t0033g0041 a0001c0001t0037g0210 a0001c0001t0040g0008 a0001c0001t0041g0239 a0001c0001t0042g0030 a0001c0001t0043g0099 a0001c0001t0044g0096 a0001c0001t0045g0085 a0001c0001t0046g0092 a0001c0007t0030g0115 a0005c0006t0003g0163	187	432	0.4329	-1228	c.350 others(17): Show c.350-3435_350-2208del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2278904	AGAGGGAG others(1221): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA GGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp1 HG02572.hp1 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0012 a0002c0002 a0003c0012	a0002c0002t0004 a0003c0012t0005 a0002c0002t0004 a0003c0012t0005	a0002c0002t0004g0035 a0003c0012t0005g0004 a0002c0002t0004g0035 a0003c0012t0005g0004	2	48	0.0417	-1228	c.388 others(19): Show c.388+11370_389-11958del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
FAM149A_chr4_186099704_186180337	186172333	CTAGGAAT others(1221): Show CTAGGAATATGTCATTTGTAACTTTGTACTCTGACGTATTTTCTAGTCTC ACCCTATTAGTAATTCTGTCAAAATCCTAGACGCTAGTAGATATTAGTAT TTGAGACAATATGTCAGAGTCTGAATAAGACTCAGCTTGTTCTAGTCATG CTGAGTTTCTCATATATTTTTTAAAAGTGCTTCCGCCATGAACCTCTTTG AGAAATGTCAGTGGCAAAATCTCCCAAGCTAATTTTCTTTTTCTATGTTC CATCTTCAAATTCAGACAGTTCACGTGAAGTACCCCACATTTATTGATCT TAGGGTTGAATATAAACGCAATTAAAAGCTATGGCAGGTGATGTCATCTT TATTGTTTACAGTCGAAGCTCCTCCATGGGAGGGGAGCCTCCCACCCTCC ACGTGCCATCAGGAGCTGGCCTTTGCCCAGACGCCACCACTGCAATGACA CCTTCCCAGAGCCCTCGTCTCCTCGCGCTCTGTCCTGCTCTGCCTGGCTT TTCTTCAGAGTGTGTTTCCCCATCTGACATTACTGTAGAAAATGGAGCAG AGAACAGGAAGGGGAATTAGCAGAGATGAGGCTCCAGGCATGTCTTCCTC TTGTCCCTCTCCCCACTGTTTCTCTTGATTGTGATTCAAGTCCTTACACT CATTTTTACATTCTCAAATCTCAAATCAGCTAATTTCCTCTTTTCTATCA GATAATTGCATTTCATCAGTCTAATTTTTACTAATCCAAACTGTAACTTT ATAAGGCTATATATATGAGCATATTTATAAACTTAGATTTATAAACTATA TACACACATATATGTATCATATAAATGCATAATAAATTACTTTCAGACTA TTTCTGGCTGTAAGGAGAAGGGATCATTGCCTACTAGTAGATGTCTGAAA TTTTAAAAGATGTGTTGAGACTAACATTAATGTTGTCCTTTATCACAGGG TGACAAAAATGACCCAGAGCCTTGCCTCTGTTTGAAAATTTCTCCTTGAC TTTGCTGACTCCATTTCTTTTTTCTTTTCTTTTTTTTTGAAACGGAGTCT GGCTCTGTGGCCCCGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACA ACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCTTCAGCCTCCTGGGTA GCTAGGATTACAGGTGCATGCCACCACACCCAGCTAAATTTTTTTTGTAT TTTTAGTAGAGGCAGGGTTTCACCATGTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0053 a0006c0023t0053	a0006c0023t0053g0129 a0006c0023t0053g0129	1	290	0.0034	-1228	c.34 others(10): Show c.347_*1574del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14	347		chr4	TogoVar
CDH4_chr20_61247261_61945617	61943484	CTCTCACC others(1220): Show CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCAT TGCGACTGTATGCACCGTGGCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	96	0.0104	-1227	c.65 others(11): Show c.6542_*7768del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2868		chr20	TogoVar
CNN2_chr19_1021608_1044065	1033716	GGGTGGGA others(1220): Show GGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGG GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGG TGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACG GTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0133 a0001c0004t0003g0133	1	388	0.0026	-1227	c.390 others(17): Show c.390+1023_391-1185del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1220): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18941.hp2 NA18612.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0035 a0002c0002 a0002c0035	a0002c0002t0001 a0002c0035t0001 a0002c0002t0001 a0002c0035t0001	a0002c0002t0001g0171 a0002c0035t0001g0067 a0002c0002t0001g0171 a0002c0035t0001g0067	2	244	0.0082	-1227	c.901 others(14): Show c.901+62_902-798del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
OR6J1_chr14_22625929_22649352	22638776	TAAAAAAT others(1220): Show TAAAAAATTTACACTGCTAGGTGAGGAGCCCCTCTGCCTGGCTGCCCAGT CTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTG AGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCT CTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCG CCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGG GAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGAC CCTCTGCCTGGCAACCACCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGTGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCT GGGAGGTGTGCCCAACAGCTCATTGAGAACGGGTCAGGATGACAATGGCG GCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCG GATGGTTGCCGTGTCTGTGTAGAAGGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGTACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCGGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCTCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(60): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18906.hp2 NA18953.hp2 NA18972.hp2 NA18975.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19078.hp1 NA19082.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0005c0006 a0007c0007 a0009c0010	a0001c0001t0055 a0003c0003t0003 a0003c0003t0005 others(15): Show a0001c0001t0055 a0003c0003t0003 a0003c0003t0005 a0003c0003t0010 a0003c0003t0011 a0003c0003t0015 a0003c0003t0016 a0003c0003t0019 a0003c0003t0024 a0003c0003t0056 a0003c0003t0058 a0004c0004t0009 a0004c0004t0028 a0004c0004t0052 a0005c0006t0003 a0005c0006t0011 a0007c0007t0005 a0009c0010t0023	a0001c0001t0055g0242 a0003c0003t0003g0024 a0003c0003t0003g0025 others(50): Show a0001c0001t0055g0242 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0255 a0003c0003t0003g0256 a0003c0003t0003g0257 a0003c0003t0003g0259 a0003c0003t0003g0260 a0003c0003t0003g0262 a0003c0003t0003g0263 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0269 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0005g0028 a0003c0003t0005g0287 a0003c0003t0005g0294 a0003c0003t0005g0295 a0003c0003t0010g0304 a0003c0003t0010g0305 a0003c0003t0010g0306 a0003c0003t0010g0307 a0003c0003t0010g0308 a0003c0003t0011g0011 a0003c0003t0011g0076 a0003c0003t0015g0021 a0003c0003t0015g0239 a0003c0003t0016g0077 a0003c0003t0016g0078 a0003c0003t0016g0079 a0003c0003t0019g0301 a0003c0003t0019g0302 a0003c0003t0019g0303 a0003c0003t0024g0282 a0003c0003t0024g0284 a0003c0003t0056g0261 a0003c0003t0058g0285 a0004c0004t0009g0008 a0004c0004t0009g0022 a0004c0004t0028g0086 a0004c0004t0052g0240 a0005c0006t0003g0258 a0005c0006t0003g0267 a0005c0006t0003g0268 a0005c0006t0011g0080 a0007c0007t0005g0279 a0007c0007t0005g0281 a0007c0007t0005g0283 a0007c0007t0005g0286 a0009c0010t0023g0027	63	360	0.1750	-1227	c.-28 others(17): Show c.-28+4095_-27-3939del	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	GCCCCAGT others(1220): Show GCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATG CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0021 a0001c0017t0004g0021	1	74	0.0135	-1227	c.224 others(18): Show c.2241+415_2241+1641del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
ARHGAP42_chr11_100682288_100998941	100805737	ATGTAGGG others(1219): Show ATGTAGGGTAACTTCCTGACATTGCCATAGCATTTATAAACTGTCATGGT GCTGGTGGGAGTGCCTTTTAGCATGCTAATGCATTATAATTAATGTATAA TGAACAATGAGGATGACCAGAGGTCCCTTTTGATGCCATCTTGGTATTGG TGGGTTTTGGCTGGTTTCTTTACTGCATCCTGTTTTATCAGCAAGGTCTT TATGACCAGCATCTTGTGCCAACCTTCACTCCTCATCCTGTGACTAAGAA TCCCCAACCTCCTGGGAAAGTAGCCCAGTTAAGTCTCAGCCTTATTTTAC TCCACCCCTATTCAAGATGGACTTGCTGTGGTTCAAATGCCTCTGATAAT ACTTAGTCATATATTTCTATGAAAACTTTATCCATCAATCCTTTGACAGT TCCCACATTAAATTTTTGACATGTAAGATCTAAAAATGTTCAGTGAATCT GATAAACCTATTTAAGTCTTTCCCCCATTCTTGAACCCAGAATTTATGAA GTAGTAGAATATTTTAAATATCGAAAGAATTACGTATCCCCATTTCTCTT GATGAAAGATTTCCCTTTATTTATTATTTTTGCCGTACATCTTTGCTTTG CGGATATGCCCTCGATAGGTGATACTGATTAATCTTAAGTTTCTGGCTTT GGTGCTGTTATATGCTTAAGTGCGATTATCTGTGAAGTAATACAGTTTCT TTTATTGTCTCAGATAAATGAGGCACAGTATGCCAAAATTCCACATGTAT GAAAACGGATTATGTTTCTGGTATGTCTTAGGTTAACTTTAATTAGAAAC AAATTTTAGGTATGTTGGCCTCCATAGCAACATTCTTCTACAGTGATTTC ACCTGAAATTAAAAAAAATAATAATAAATCATCTCAGTGTCCTACATGCA TAAAGTTCTGATTTTCACATTTACTGAATTGTGGATGCTTTCCATCTCCT GATTTCCAGTTTTCTGGTGAAATATTAAGGTAAGAGTGAGAGGTGGTAGA TCATATACAGTTTATCATAACTGCAATAATAGTGGCTTTTATATTTTAGT GCTAATAATCATAAAATTCATTTTTAAATTTTTTATTTGTTTGTTTGTTT GTTTATTTATTTATTTATTTATTTATTTTTGGGACAAGTCTCACTTTGTT GCCCAGGCTGGAGTGCGTTGGCACCGTCTTGGCTCACTGCAACCTCTGCC TTCCGAGCTCAAGTGATTCTTGTGCCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	284	0.0035	-1226	c.312 others(19): Show c.312+10574_312+11799del	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
RBMS3_chr3_29276071_30015386	29360168	TCTCTTGT others(1219): Show TCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTAA ATGTGTCCCAGAGATTCTGGTACATTGTGTCTTTGTTCTCGTTGGTTTCA AAGAATATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATT CAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGTGGTTTTGAGTGAGTT TCTTAATCCTGAGTTCTAATTTGATTGCACTGTGGTCTGAGAGACAGTTT GTTGTGCTTTCTGTTCTTTTACATTTGCTGAGGAATGCTTTACTTCCAAC TATGTGGTCAATTTTGCAATAGCTGTGGTGTCGTGCTGAGAAGAATGTAT ATTCTGTTGATTTGGGGTGAAGAGTTCTGTAGATGTCTATTAGGTCTGCT TGGTGCAGAGCTGAGTTCAATTCCTGGATATCCTTGTTAATTTTCTGTCT CATTGATCTGTCTAATGTTGACAGTGGAGTGTTAAAGTCTGCCATTATTA TTGTGTGGGAGTCTAAGTCTCTTTGTTGGTCTCTAAGGACTTGCTTTATG AATCTGGGTGCTCCTGTATTAGGTGTATATATATTTAGGATAGTTAGCTC TTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTC TTTTGATCTTTGTTTGTTTAAAGTGTGTTTCATCAGAGACTAGGATTGCA ACCCCTGCCTTTTTTTGGTTTCCATTTGCTTAGTGGATCTTCCCCCATCC CTTTATTTTGAGCCTATGTGTGTCTCTGCATGTGAGATGGGTTTCCTGAA TACAGCACACTGATGGGTCTTGACTCTTTATCCAGGTTGACAGTCTGTGT CTTTTAATTGGAGCACTTAGCCCATTTCCATTTAAGGTTAATATTGTTAT GTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTCGTT ACTTGAAGCAGTTTCTTCCTAGCATCAATAGTCTTTACAATTTAGCATGT TTTTGCAGTGGCTGGTGCGCTTTGTTCCTTTCCATGTTTAGTGCTTCCTT CAGGAGCTCTTGTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTT GCTTGTCTGTAAAGGATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTG GCTGGATATGAAATTCTGGGTTGAAAATTCTTTTATTTAAGAATGTTGAA TATTGACCCCCACTCTCTTCTGGCTTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0011 a0002c0005t0055 a0001c0001t0011 a0002c0005t0055	a0001c0001t0011g0033 a0002c0005t0055g0085 a0001c0001t0011g0033 a0002c0005t0055g0085	2	114	0.0175	-1226	c.76- others(17): Show c.76-74574_76-73349del	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(1218): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	285	0.0035	-1225	c.35 others(11): Show c.3582_*4806del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
DLGAP2_chr8_732628_1713476	1016324	CGCCTCCA others(1218): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTC CACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	37	0.0270	-1225	c.73+ others(19): Show c.73+108408_73+109632del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
SFMBT1_chr3_52898572_53051073	53012592	CGGGGTTT others(1218): Show CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGTGCTCTTAATCCTTTGCTTATTTTAGTAATAGGAAAA CACTGGCCAACAAACCCAAAAGTCAAAGGTTAGGGCCTACATATCATATG ATTCAAGGTAATGCAATTATGGGAAAATGGAAGACACAATTTAGTTTTTG CAGGCTAAATTTCCATCACCAGCAAATCTAGTTCAGCTATAAATATAACA AATTAACATACACTGATTGGAGCATATTTCACCTGCTTTATAGTTGAAAA GCTAACATCTCTCAAAACTCAATGCTAAAGAGACTAATAACAAAAATACA AAAAAACCCATAAAAAATTATAAATATTTTATACTACCTTTCCCAAACCG TAAACCATATTTTGAAAAAGCATCTAAAAGACCAATCACAATCATCTGAA AATCTGCTTTAGGAATTGTGGAGCTACTGGATTTGATTATAATGTTGGCA AAAACACTTGCTGCTTCAATGGAAAATATTTTCATCAATATTTCCAGTGA TGGGCTCTAAGTTGAGATAGTACAATTCATTCATGAAACTTGCTAAGTTA CAATTTATGCACTAGTTTCTACTCAAAATGGTAAGGGTAATCATTCTTCA ATCTTTCACCTAAAGAGTAAAACTCTTCTAGGTGGACAACAGGGAACAGG TAAACTTAGAATTGCCAAAGAATATTACGTCTTGAGTATAACTCTTAGTG GTATTGTATGGCTAAGTTGTTCAAAACAGACCAGAGGTGAGTTTCTGCTA AATTCACTTTTCTATCCACTGCTAGCTGGAATCAACTTTTTTCACATTCT AGGAAATGATTACTATATTTGCTCTTGCCAAAATGCTCTCACCATTTTGT TACTATTAGATAATAATCCATTAATAGTAAATTTAATTACTTCAAGAAGG AACACAGTTTATTTATAAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCCGGAGTGCAATGGCGC AATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTG TCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCCCACCACCACACCCAG CTAATTTTTGTATTTTTAGTAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02257.hp1 others(3): Show HG01074.hp1 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 others(3): Show a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327	6	326	0.0184	-1225	c.-13 others(21): Show c.-131+31999_-131+33223del	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
ARHGAP39_chr8_144524179_144690846	144624711	GGCGGCCC others(1217): Show GGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCC CCGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGT CCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCC TGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGC CCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAG CCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCA GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGC GGCATCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACT GCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACAC TGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACA CTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCAC ACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCA CACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGC ACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTG CACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACT GCACACTGCGGCAGCCCCTGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0019 a0001c0001t0018g0019	1	243	0.0041	-1224	c.-81 others(19): Show c.-81-20240_-81-19017del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
BRF1_chr14_105204286_105306001	105231908	CGTGGCAC others(1217): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTC AGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATC TCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGC GGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGG GCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAG CATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGG GGGCGGGGGACAGCCTGGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	67	0.0149	-1224	c.695 others(17): Show c.695-4219_695-2996del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1431912	GGGTCTGG others(1217): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCCTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01361.hp2 HG00639.hp2 HG01069.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0181 a0001c0001t0004g0186 a0001c0001t0004g0163 a0001c0001t0004g0181 a0001c0001t0004g0186	3	346	0.0087	-1224	c.92- others(15): Show c.92-4103_92-2880del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GALNT9_chr12_132191372_132334589	132221165	CCAACATG others(1217): Show CCAACATGGTGAAACCTGTCTCTACCAAAAATACAAAAATTAGCTGGGTG TGGTGGTGGGCACCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGCAGC ATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTTCACACCAT TGCACTCCAGCCTGGCGACAGAGTGAGATTGTGTCCAAAAAAAAAAAAAA AAAAAAAAAAAAAGGGCTGGGTGCGATGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGTTCAAGACCAG CCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCT GGGTGTGGTGGTGGTGGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAG GCAGGAGAATTCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTTGTGAT CATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACGTTCTCAAAAAA AAAAAAAAAAAAAAGCAAGCAAGCCTGAGATGGACAATGTATGCAACGCC CCATAACGGAAAAGAAAGGAATCCGCAAACGTCAGGGCTCTGTGATCAGA GGAATTCGGGGGCCCAGAAGCCCACCCCACAGCCGTTCCTGGTACTGCGC TGCTGGGTGACATCGGGTAAATGCAACCCGCACTTGCTGGAATCGAATTT CAGCAAAAGGTTTCTCAGGTTCACATGGGAGAGTAAAAGCAAGAGAATAA TAGTCAAGAAAGTCCTAAAATAGTAATGGGGACAGGTTTAATCGCTAGAC ATGCAGCTATTTTATAAATAATTGTATAAATAATGGCTTAGAGTAGAAAG CTCAAGACAGACAGTGGATTGGGTAAGCCTGTGACGAGGGCTGCTCTTCC GTTCGCGGCTGAGGATGGAGATTTGATGAGTGACCTGAGAAGGCATCGTC CACCATCTTAAAACCTGATAAAGATCAGCAGCTTCCTCATGTGAAAACAC ACAACTCCAAACGGATGAAGGCTTTTAATTTGAAAAAAGAATTCTACGAG TATCAGAAAGATGTTCAGATGGTCAAACAGGCTTCCCTAAGAACGACAGC AAAGGCACACACCATTAAAACGCACATACCAGGCCAGGCGCAGTGGCTCA AGACTGTGGCCCCAGCACTTGGGGAGGCCGAGGCAGGAGGATTGCTTGAG GCCAGGAGTTCAAGGCCAGCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	182	0.0055	-1224	c.107 others(21): Show c.1078-18699_1078-17476del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRID2_chr4_92298966_93779566	93678911	AAATTCAC others(1217): Show AAATTCACACATAACAATATTAACTTTAAATGTAAACGGACTGAATCCTC CAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCACACATGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGGAAAATAAAAAA AGTCAGGGATTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAAATCAAAAGAGACAAAGAAGGCCATTGCATAATGGTAAAGGGATCAAT TCAACAGGAAGAGCTAACTATCCTAAATATATAGGCACCCAATACAGGAG CACCCAGATTCGTAAAGCAAGTCCTTAGTGACCTACAAAGAGACTTAGAC TCCCACCCAATAATAATGGGAGGCTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTTAACAAGGATACCCAGGAATTGAACTCAG CTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAC TGACCACATACTTGGAAGTAAAGCACTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAAACTCACTCAAAACCGCTCAACTACATGGAAACTGACAGC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATGTTCTTGGAAACCAACGAGAACAAAGACACAACATACCAGAATCTCT GGGACACATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC CACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCCAGAAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACCAAAAAA ACCTTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGATGCAATAAAAAATGATAAAGGGGATATCACTGCCAATCCC ACAGGAATACAAACTACCATCAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0032 a0001c0001t0001g0033 a0001c0001t0003g0032	2	34	0.0588	-1224	c.236 others(21): Show c.2360+52480_2360+53703del	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPH3AL_chr17_207389_357807	287153	TCTCTCCA others(1217): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCA CCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTC TCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTC TCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTC CACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02738.hp1 HG01358.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0096 a0001c0002t0002g0038 a0001c0001t0003g0096 a0001c0002t0002g0038	2	132	0.0152	-1224	c.352 others(17): Show c.352-6523_352-5300del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974691	GTCTCCGG others(1217): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0144 a0002c0004t0001g0144	1	150	0.0067	-1224	c.532 others(19): Show c.532-45978_532-44755del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1699232	GCTCGCCA others(1216): Show GCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCGGGCACTCGCCA ATACACGCAATCCCACTCCACCGGGAGACCAGGTGCTCACCAGTACACGC AATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACGCAATCCCAC TCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGG GAGACCGGGCACTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAG GTGCTCACCAGTACACGCAATCCCACTCCACCGGGAGACCAGGCGCTCGC CAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACAC TCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCC ACTCCACCGGGAGACCAGGCGCTAGTCAATACACTCAATCCCACTCCACC GGGAGACCAGGCGCTAGTCAATACACGCAAACCCACTTCCACCAGGGAGA CCGGGGCACTCGCCAATACACACAATCCCACTCCACCGGGGAGACCAGGC GCTCGTCAATACACTCAATCCCACTCCACCGGGGAGACCAGGCACTCACC AATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACG CAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATACACGCAATCCCA CTCCACCAGGAGACCGGGCACTCGCCAATACACGCAATCCCACTCCACCG GGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCG GGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCG TCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACA CTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAACACACACAATCC CACTCCACCAGGAGACCAGGCGCTCGCCAATACACGCAATCCCACTCCAC CAGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGAC CAGGCGCTAGTCAATACACGCAATCCCACTCTACCAGGAGACCGGGCACT CGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATA CACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAAT CCCACTCCACCAGGAGACCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02257.hp2 others(9): Show HG01433.hp1 HG02055.hp2 HG02257.hp2 HG02622.hp1 HG02897.hp1 HG02970.hp1 HG03540.hp1 HG04184.hp2 NA18983.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0007c0013	a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 others(8): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0002c0002t0002 a0002c0002t0005 a0002c0002t0044 a0002c0002t0046 a0002c0004t0005 a0002c0004t0028 a0007c0013t0020	a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0024 others(9): Show a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0024 a0001c0001t0023g0023 a0001c0001t0025g0036 a0002c0002t0002g0075 a0002c0002t0005g0033 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0004t0005g0029 a0002c0004t0028g0020 a0007c0013t0020g0037	12	106	0.1132	-1223	c.100 others(19): Show c.100+36596_100+37818del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
B4GALNT1_chr12_57618409_57638201	57634244	GGTGACAG others(1216): Show GGTGACAGAGCGAGACTCTGTCTCAAAAGAAGAAATCATGGAATTTTTGT TTTGTTTATGATCTTGGAGTAGGGAAGAGATCTCTAAGCCAGATGTAAAG GGAAATATTAATAAATCTGACTATATGAAAAACTTGAGTGAAGAAATTAA CATACACTAAATTTGAGAGAGAAATGACAAACTGTGAAAAAATATTTGTA ACATATAAGACAGGTATACTTTATCTGGTTGGTGCCCCCAGCGGAGATGA CCAGGAATGAATTATGAACCATTGAAAACATAGGAATCCATGACTCCACA CTGATAATACATAGATAATTAATTAATTAATTAATTAAATGAATGAAGGA GAAGGGAGAATGCCAATTAATAAATGTGGAGGGAGCTGATGGAGTTGGAA AATAACTATTTTTTAAAATTTTATTTTATTATTATTATACTTTAAGTTTT AGGGTACATGGGCACAATGTGCAGGTTAGTTACATATGAATACATGTGCC ATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCT CCTAAAGCTATTCCTCCCCCCTCCCCCCATGAAAATAACTATTTTGCAAC CATCAGAGTAAAAGTTGGTTTGGGCAAGAATTATCAATGAATGCTAATTC TAGGGGGAAAGTTTGACAGAAGCAGCTTATGTACGTAGCTTAAAGTATCT CCCCATAGTTGGCTTATTCGTTGCAAGAGGAAAAATTGTAACCGCGCAGT GGGAAAAGCAGACAGCACCTTGACTTGCTGGCCAAAATTAACATCACCAA TGAGGGACAGAAGAATATCATGTGCCTCCAGAAATGTTCCCCGGAGAAAG CATGACATCATTTATGTAGTGATGTGGCTGGGAATACATAACTTGATTTT AAATACAAAGAAACAGACAGACCCCAAGTAAGGAATATTTTCTCTGTATA AAAGAAACAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCATTTTG GAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCCG GCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGACGGG CATAGTGATGAGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGA GAATTGCTTGAACCCTAGAACCCAGAGGTGGACATTGCAGTGAGCCAAGA TCGCACCACTGCACTTCAGCCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(101): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18982.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0013 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 others(21): Show a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0022 a0002c0004t0009 a0002c0004t0016 a0002c0004t0017 a0002c0004t0023 a0002c0005t0010 a0002c0005t0016 a0002c0013t0017 a0003c0003t0010 a0003c0003t0013 a0003c0003t0015 a0003c0003t0016 a0003c0003t0018 a0004c0008t0003	a0001c0001t0001g0001 a0001c0001t0026g0059 a0002c0002t0003g0003 others(29): Show a0001c0001t0001g0001 a0001c0001t0026g0059 a0002c0002t0003g0003 a0002c0002t0003g0016 a0002c0002t0003g0034 a0002c0002t0003g0036 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0005g0004 a0002c0002t0005g0033 a0002c0002t0007g0010 a0002c0002t0010g0049 a0002c0002t0011g0017 a0002c0002t0012g0019 a0002c0002t0014g0020 a0002c0002t0015g0024 a0002c0002t0022g0043 a0002c0004t0009g0014 a0002c0004t0016g0047 a0002c0004t0017g0023 a0002c0004t0023g0048 a0002c0005t0010g0041 a0002c0005t0016g0035 a0002c0013t0017g0042 a0003c0003t0010g0037 a0003c0003t0010g0040 a0003c0003t0013g0018 a0003c0003t0015g0038 a0003c0003t0016g0039 a0003c0003t0018g0021 a0004c0008t0003g0022	104	404	0.2574	-1223	c.-26 others(11): Show c.-2697_-1475del	B4GALNT1	ENSG00000135454.14	transcript	ENST00000341156.9	protein_coding		1044		chr12	TogoVar
KLHL7_chr7_23100785_23182914	23141571	GCAGTCAT others(1216): Show GCAGTCATTTGGGAGCTGGGTGGGAGAACACTTTATTTAATTCATTCATT CATTCATTCATTCATTTATTGAGACGGAGTCTCGCTCTGTTGCCCAGGCT GGAATGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCTTCTCCCGAGTT CACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACTGGTGCC CGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTTGTGATCTGCCCG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGG CCTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAG TGCAGTGGCATGATCACGGCTCACTGCAACCTCCACCTCCCGGGTTCAAG CGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTATAGGTATGTGCC ACCACACCCTGCTAATTGAGATGGGGTTTCACCATGTTGGCCAGGCTGGT CTCAAACAGTTGACCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GATGTGAGCCACCATGCCTGGCTGTGGGAACACTTTAATATGCAGACTCA CTTAATCTCTCTTTTCAGCCCCACATCCTTCTCTATATTTTAAGCCACTA AGTTTGTGGTAATTTGTTACAACAGCAATAGAAAACTAATATAGGTACTA TAAGATCATATGTTTTAAGTTGCTTTTGTTCTAAAAACAAAAATTTGCAC TTAGCAATGTTCTTTTGCCCAGTCTTCTTCGTGGCCCAGAGTATCAATTT GCAAATTGACAGGTTGGACCTGGAGGACCTCACTAGATAAATAGAAAAAA TTTACTTCCATGATCAAAATTGGTTGACTTAAATGCAGTATGGAAAAGGA GTAACAAGTAACATTACACTGGAGAAACGTTATAAACAGTACCTGCAGAT GGTCAGCATTAGCATCATCAGTGATGTCATGTTGATAGTATGCACACTTG ATGTAATGAAAATGCCATTCACCTCTATGATCGTCCTCCTAAAAAACCAT AACCTCAGTCTAATAAGTAACACATCAGATAAACCCATATTGAAGGACAT TCTCAACAAAATACCTGACCAGAACTCAAAACTGTCAAGGTTGTCAAAAA CAAGGAAAGGCTGAAAAACTGTCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0055 a0001c0005t0027g0057 a0001c0005t0027g0055 a0001c0005t0027g0057	2	326	0.0061	-1223	c.618 others(16): Show c.618+633_619-1052del	KLHL7	ENSG00000122550.18	transcript	ENST00000339077.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMOC2_chr6_168436184_168672992	168575831	CGACTTCC others(1216): Show CGACTTCCTTGATCATCACTCAGTTCCTCTCTCAGGATCATCCTCCACCA TTGTGACTTTACTGACTTGGGTGCCCTCCCAAGCACCCAGGTGAAGGCCA GTGCACCCCTGCCTGTCGGCCACATGCTGGCAGGAGGCAGCCCGCCATGA GACACAGAGGCAGGGTGGCTGGGGTTAGAGGCAGGACTTTGGAGCCTGGT GGCCTGGGTCTGAAACCTGGTTGTCCCCTCCCTACCCTAGCCTTGGTCAG GTTGTGGTTGCTCAGATTTAGTTGTGCCAAGCGGTGAAGACTGGGTGAGG CCATGCTGGGCAGGTGCACCAGTCAGCCCTGTGTAGGTTTCCTCAACTCT GCTCATTCAAACAGGTAAATACATAACACACAACCCTTATTCTCAAATAG CTCAAGTTTATGGTCTAATTCAGCAGCTCCCACACTTTTTTGATATAAAA ATTCTTTTGTGCTGTTATAACTCATCAAGGACCCCAAAAAGCTCTTGTAA TCATGGGCTGTATCTACTGACATCAGTGAACATGTTTGCACTAAGCACGT TGTGATCTGAGGCACGTCCAGTCGGGCAGCAGATGGCTGACATCGCAGAT CACCTAGGCTCACACGCTTCCAGAGTGCAAGGCCAGAGAACACCTTAGCA GTCTATAAAAGTGGTTCCGACCCCACGGATCTCCTGTGAGGACCTTAGGG AGCCCTGGGGGTCCCTTCAGACCTCGCTCTGAGAATGGCTGGTCTAACAG CAGGGACACCAAATGGACGCATCACAGGCAAACCGGCGGGCCTCGCTCCA TGGAACCCCCAACCACAAGGAGCTCTAAGTGCAGTGGGATCCTCAGGTGA TCCGAGTCCTTGGGGTGGAAGGAATGAGGGAAGGTTTCCCTGAGGAAACA AGGCAGAAGCAAAGTAGAAGGAAGGTTTTCTGGCAGTGTCGTGATCGTGT TCAGGGATCACCCGTCAGAGACTCATCGTCGATGTGAACACACATCCCTA AATCTAGTTTACATGCTTAAATTGAGCACTTTGCTCCTCAGTCACAGACA TCTACACGCAGGCATTTAGATTTTTCCCCTCAAGCACGCATGAGATTTCC TTTATACCTGGAGAAAGAAGGGCCCATCCTGGAGATTTTCCCAGAAGGAA TCCCTGGAAGGTGAATTCCAGCCACTGAGTCTTGGGTGACACTTGCTGTT TTGAAATGGCCCCTTGCCTGTTGA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0050 a0001c0007t0005g0050	1	178	0.0056	-1223	c.638 others(19): Show c.638-22986_638-21764del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0094 a0005c0007t0001g0094	1	384	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del	METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4			chr2	TogoVar
MS4A1_chr11_60450847_60475752	60460691	GTTAACAT others(1215): Show GTTAACATGAACAAGTGAATGCTAAGGAAACCCAAGATGAAGATTGAACA GAATCTTAAAATGTCTGAGCTGGAAAGGGCCGTATTAATTGCCTTCTCAC TTCAGAAATGAATAAATCATGAAAACTGATAAATAGCATTTACTACACTC TCCCTTTGTCCTAGGCACAATTACATATGTTAACTTATTTATGTCTTACA TCTCAGAGAGGGGTACTGTTCTAACTTTACAGAAGGATAAAATCGAAACT AATGCTCAGCAAAGTACAAAGAACAAGAATAGCAACAAAAATAACTATTT ATTCCAACATGGGTTCTTTGCATACATTTATTTCTTCAATAATATTTATT AAGAAGTAACTAAATCCAAAAATTATTTTAGATCCTGAACAAGAGAGAAC AAAATCTCTACTTTGATGGAACTTCCATTCTGTGGGGAAGAGACTGACAA TAAGCAATTAAATAAATAAGGTAATTTCCTACAGTGATCAATGCCGTAAA GCAATTAAGATAGGATTTTGTAAAAGACAGCAAATAGGAGTACATGTTAT AGATTGAGGGTTCAAGGTAGGCTCCTCTAGGAGCTGACATTTGAGCTACA CCTGAACAAAAAGACACTAGCCATGCACAGACCATGAGCCCAGTTAAGTG TTATAGCAGCCCACGAGATAAGAATTATTATTATTTCAATTTTACAGTTG AACCTGAGGCCCAGAGAATTTAAAGAACTTGCCCAACATCTCAGAACAAA TGGAGGAATCACTATTGAAACCTAGGCAATCTGACTCAGGAGGCCACAGT CTTATATACTGCATTAGAAAGCCTTAGAGAGCCTTTTCTTTTTCTTTGAG ACCGAGTCTCACTCTGTTACCCAGGCTGGAATGCAGTGGCATGATCTCAG CTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCC TCCCGAGTAGCTGGGATTACAGGTGCACACCAACATGCCTGGCTAATTTT TGTATTTGTAGTAGAGATGGGGTTTTGCCACGTTAGCCAGCCCGGTCTCA AACTCCTGACCTCAGGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTTGG ATTACAGGCATGAGCCACCGTGCCCGACCTAGAGAGCCTTCTTGATGTGA CTTGCACAAGGTGGCAGAGTTAGAGACAGAGAGAGGCCTGGAATCGACCC CTCCTGCTTCTACAGATAGTCCT	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG01192.hp1 HG01361.hp2 others(9): Show HG00558.hp2 HG01192.hp1 HG01361.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp2 HG02273.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0008 a0001c0001t0008g0026	12	444	0.0270	-1222	c.-27 others(17): Show c.-279-379_-190-271del	MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15932469	GGAATGAG others(1213): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0125 a0001c0006t0040g0125	1	375	0.0027	-1220	c.198 others(16): Show c.198+522_198+1741del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
RGPD4_chr2_107821892_107897544	107828275	CCCGACGG others(1213): Show CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGC GCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGC CCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGC TCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGG CGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCATGGCT CCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGC GCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCTACCCGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGG CGGCCTCGACCCGGCCCGGCGGCGGCCTCCATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTTGAC CCGGCCCGGCGGCGGCCTGGATGGCTCAGGCGTCATGGCTCCCGATGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTACCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	372	0.0027	-1220	c.72+ others(15): Show c.72+1241_72+2460del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(1213): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18953.hp2 HG03669.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0111 a0001c0002t0001 a0001c0001t0111 a0001c0002t0001	a0001c0001t0111g0345 a0001c0002t0001g0108 a0001c0001t0111g0345 a0001c0002t0001g0108	2	263	0.0076	-1220	c.181 others(21): Show c.1811-13729_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(1212): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGT CCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTC CCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCG TGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCC CCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTC CCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0208 a0001c0001t0002g0209 a0001c0001t0001g0208 a0001c0001t0002g0209	2	207	0.0097	-1219	c.121 others(17): Show c.1214+40_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429152	ACGTTCTA others(1211): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTAC ACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGG TACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGAC GTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGT ACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCA GGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTC GCGCTCAGTCGTTCTAGTACATAGCAGGGACTCTCAACTCTCAGGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18956.hp1 NA18953.hp1 NA18956.hp1	a0001 a0028 a0001 a0028	a0001c0001 a0028c0050 a0001c0001 a0028c0050	a0001c0001t0001 a0028c0050t0001 a0001c0001t0001 a0028c0050t0001	a0001c0001t0001g0068 a0028c0050t0001g0066 a0001c0001t0001g0068 a0028c0050t0001g0066	2	302	0.0066	-1218	c.-14 others(21): Show c.-144-12002_-144-10785del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
GRTP1_chr13_113319163_113369130	113346243	CCTCTGTG others(1211): Show CCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATC TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCG AGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACC TCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCA GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAG CAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCG GATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGA CCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGC TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCAGACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	228	0.0044	-1218	c.466 others(17): Show c.466-2502_466-1285del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1541566	GGACCCTG others(1210): Show GGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCC TGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGC CGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCC CACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCA GACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTA GTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAG ACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTG GATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCAC AGCCGTCCAGACTCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGT CCAGACCCCACTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCAC TCACACTCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGTAGTT CAGACCCTGGATCACAGCCGCCCAGACCACACTCAGATATAGTTCAGACC CTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGAT CACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGC CGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCA GACTCCACTCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCC ACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCGCACTCAG ATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAG TTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGA CCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGG ATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACA GCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGTC CAGACCCCACTCAGACGCAGTTCGGACCCCGGATCACAGCCGCCCAGACC CCACTCAGACGCAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	56	0.0179	-1217	c.101 others(21): Show c.101-163623_101-162407del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANKRD46_chr8_100515772_100564759	100543054	GTTCCTAT others(1210): Show GTTCCTATATCAGTTTCCCATGGAGCTATTTTTGCAAACTGCCCAGAGAC CAGACACCTGCCCATTGTGACTAACATGGGAAAGAATTGTCAAAGACTAT GGATCTTAAGTTTTAATAGCTACATAGCTCTTCCAGATTTGCTGCTTTCC AGGAAATGTCTTTAATAAACAGGCTTTGTTTGTTTAGACACTGTCAATTA AAACTGATTCCCAGTGTTAGCAACTGTTGATACAAACCTTATTTTCGTTT TAATTCTTATTCTCAATCTCAAAACCATTTAATATTTTGCGATTTGTTCT ATAACAAATACTAAGGAAACTGGGAATAAAATGGTAAATTTCTTTATATC AAAAAACAATTTTCTAAATGACTTGTAGATAGGAGCAGGACACAATATAA AACTGTTAAGAACTTGTTTTTAAAAGTTTGAACAACTGCTAAACTTTCGT CCTTGTACTCAAGAGAACTACAGTGTTAAACAAAGATAATTATGATTTAA AAATTATTCTTTAAAATGCTGTCAGAAGATAATGGCTTCACAGTCTTCAA ACAATAGGAGAGTAAGTTTCTTGTTTTTAAATAAATAAATTACACTCTCA GGATTGACGAGCTTTGGATTTGGGGAAATGAACTATAATATGAAATGTTA TATCTTAAACTGTAGAGAAGTATAAGAAAAGACACACAAAAACAAATTAA AGGCAAACTTTCAGGTTTATGGTAGCTATTAAATTTACCACTAATATATC TGCATGTCTTCTTCAGTGATACTATCAAAATAAATCTATTCCAAATACAT CTAAATATTTTTATTCAAATAGTGTCCTTTCATACCATGTCTCTCTGGCC CAAATTTTTCTTTTTAATTATATTTTATTGGATGGTTTCAGGAGTGTAAT TGAAATCATTTAAAGATTAACCCAAGAGTTCTTAATGTCAAAGACCTTTA TGTCCACATCACTTCCATCACTTAGTTGGACTTTGCACACTTAGAACTTA ACTCCACTGCCCAGATCTTGACCTACAACTACCTTTTATATTGCCTTACA CTTTAGGAAATATTTCTCATTTATTCTCTCAATCTCTCCCTCACCCTCCT TTTGGCTACCCCAAGCAGCAAGAAATCTGCCCATACAACCATCCCTAACT CTCTTCAGTCAGCTTCTGGTTCCTTCTAAGGCTCAAAGCAGATCACTTCC ACTTCCACCAGGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	398	0.0025	-1217	c.-13 others(20): Show c.-130-10960_-130-9744del	ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	1/4			chr8	TogoVar
CRPPA_chr7_16082525_16426538	16197507	TTTTTTTT others(1210): Show TTTTTTTTTTTTTAAGAAACGGTTTCATCATGTTGCCCTAGCTAATCTGA AACTCCTGGGCTCACGCAATCCTTCCTGCCTCTGCCTCTGCCTCTGAAAA TGCTAAGCAAAAATTGGTAAATTCTTTCATCTGAATTTTATATAATATAA AGTAGTAAGAACTGTAGAACTTCCAACACATAATGACTCCATCCAAATCT CTGCACTAGAGGCAATGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTG TGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACT AAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATGACCTTACCCCC AACCCCGTGCTCTCTGAAATGTGTGCTGTGTCAACTCAGAGTTAAATGGA TTAAGGGCGGTGCAGGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCA TGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACAC AAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTG TCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAAGG GAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCTGA GGAGGATTAGTAAAAGAGGAAGGAATGCCTCTTGCAGTTGAGACAAGAGG AAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTATAA AACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCCTTAGGG CTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCACTGAGAT GTTTATATGTATGCATATCTAAAAGCACAGCACTTAATCCTTTACATTGT CTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCC ACAATTGTCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACACCCACA GATGATCAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATA TGCTGAACGCTGGTTCCCCGGGTCCCCTTATTTCTTTCTCTATACTTTGT CTCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGAGAAACA CCCACAGGTGTGTAGGGGCAACCCACCCCTACAGGATGACCGGTATGCAC TCCCATACTTGCGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp1 others(41): Show HG00408.hp2 HG00621.hp2 HG00673.hp1 HG01884.hp2 HG02040.hp2 HG02135.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 others(12): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 a0001c0001t0032 a0001c0001t0034 a0001c0001t0045 a0001c0001t0065 a0001c0001t0066 a0001c0001t0078 a0002c0002t0002 a0002c0002t0009 a0002c0002t0020 a0002c0002t0048 a0002c0002t0067 a0002c0002t0077	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(41): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0009g0029 a0001c0001t0009g0084 a0001c0001t0009g0163 a0001c0001t0009g0165 a0001c0001t0020g0050 a0001c0001t0020g0198 a0001c0001t0032g0027 a0001c0001t0032g0028 a0001c0001t0034g0033 a0001c0001t0034g0097 a0001c0001t0045g0003 a0001c0001t0065g0196 a0001c0001t0066g0021 a0001c0001t0078g0026 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0258 a0002c0002t0002g0274 a0002c0002t0009g0223 a0002c0002t0020g0221 a0002c0002t0048g0217 a0002c0002t0067g0255 a0002c0002t0077g0270	44	288	0.1528	-1217	c.125 others(21): Show c.1251+17342_1251+18558del	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
DMD_chrX_31114222_33216549	32626319	TAGCTGGG others(1210): Show TAGCTGGGCGTGGTGGCAAGCACTTTTTAATCCCGGCTACTCAGGAGGCT GAGGCAGGAGAATCACTTGAACCCGGGGGGACAGAGGTTGCAGTGAGCTG AGATCACACCACTTCACTCCAGCCTGGGTGAAAGAACAAAACTCCGTCTT AAAAAAATAGATAAAAATAACAAAACGATGGCTCAAAAATTCTAGCAAGG TGGTTCTTATAGATAGATTAGTTTTGGTTTTAGCTTAACAATTCTTTATA TGCAACTAGATGCTTCTAGAATGCTGTCATCTGCTTAAATAAGTAATTTT TAAAATCAACTTTGTTTCAGCTTTTGTTTCATTCTCTATTAAGAAAGGTA TTGGGGGCTGGGGAAGGAATAGCATTAGGAGAAATACCTAATGTAAATGA GCTGATGGGTGCAGCAAACCAACATGGCACATGTATACCTATGTATCAAA CCTGCGAGTTGTGCACATGCATCCTAGAAATTAAAGTATAATAATAATAA TAAAAGAGGGAGAGAAAAAAGAAAAGAAATCCAAGATAGGTTAAAAAACA GAAAGTTATTAATTGAGGTAATGTTTAAGTCCGGCTTTTATTCAAACTAT CACAGATAGGTGAATTAGTGGAATTTATATAAATAATGCCTTAATATAAA AAGGTACTAATTGATTAGAATCACTGAGAGAACTTTTCAAAATGACGTCC CAGCCCCATTCCCCAACAATTCAATCAGAATATCTGGGAATGGAGCCCAG GTATTGGTTCTGTAAAAAACTATCCAACCAGGTAATTCGAATGAACATCC AGGGTTGAGAACGATTGTGCCTCTTCCCCGCCCCCCCCCCCGCCCCAGGA CACAGCCATAATTTTTACTTTAGCCCTTGGGTCCTCACAAGTGGCAAATA CCTGGAAAGCTGTATCCAGACAACATGACTTGTTAGGGTTAACATGAACC AGATGCACAGAGGTAACATGGAGACAAAGGATCAGGATGCACAAACATGC GTTTACTTATTTATAAATGACTTCCACAAGTACTAAAATATCTATTATGT ACCCCCAGAAATTACAAATAAAAAAGAAGACTTACTAAAGAGTAATTTTG ATCTTGTAGAATTTGGGGCTTTTAAATATAATTTTTAAATACAAAATAAT AATTGTGTGTCAGAAAAAAAGAGGTATTATTGTAATTAATCCTATTGATT CAGCAACTGATATTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02257.hp2 others(4): Show HG01255.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02965.hp1 HG03579.hp1	a0002 a0003 a0020 a0002 a0003 a0020	a0002c0013 a0002c0023 a0002c0051 others(3): Show a0002c0013 a0002c0023 a0002c0051 a0003c0003 a0003c0008 a0020c0042	a0002c0013t0002 a0002c0023t0009 a0002c0051t0003 others(3): Show a0002c0013t0002 a0002c0023t0009 a0002c0051t0003 a0003c0003t0017 a0003c0008t0018 a0020c0042t0011	a0002c0013t0002g0094 a0002c0013t0002g0124 a0002c0023t0009g0011 others(4): Show a0002c0013t0002g0094 a0002c0013t0002g0124 a0002c0023t0009g0011 a0002c0051t0003g0091 a0003c0003t0017g0087 a0003c0008t0018g0001 a0020c0042t0011g0090	7	126	0.0556	-1217	c.133 others(21): Show c.1332-13083_1332-11867del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
SERPINF2_chr17_1737871_1760265	1740644	GACAGTGA others(1210): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTG GACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02280.hp1 others(12): Show HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03139.hp1 HG03139.hp2 HG06807.hp1 NA19240.hp1 NA19240.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0014 a0003c0003 a0012c0014	a0003c0003t0001 a0003c0003t0004 a0012c0014t0004 a0003c0003t0001 a0003c0003t0004 a0012c0014t0004	a0003c0003t0001g0012 a0003c0003t0001g0019 a0003c0003t0001g0035 others(5): Show a0003c0003t0001g0012 a0003c0003t0001g0019 a0003c0003t0001g0035 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0004g0012 a0003c0003t0004g0019 a0012c0014t0004g0073	15	444	0.0338	-1217	c.-22 others(11): Show c.-2268_-1052del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2226		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740644	GACAGTGA others(1210): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTG GACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02280.hp1 others(12): Show HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0001c0026 a0001c0036 others(2): Show a0001c0007 a0001c0026 a0001c0036 a0001c0042 a0007c0024	a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 others(2): Show a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 a0001c0042t0001 a0007c0024t0008	a0001c0007t0001g0005 a0001c0026t0001g0029 a0001c0036t0001g0039 others(2): Show a0001c0007t0001g0005 a0001c0026t0001g0029 a0001c0036t0001g0039 a0001c0042t0001g0053 a0007c0024t0008g0023	15	430	0.0349	-1217	c.29 others(11): Show c.2960_*4176del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2060		chr17	TogoVar
RAB27A_chr15_55197966_55294813	55214252	TGGTGAAA others(1209): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGT GGTGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGG CATGAACCCAGGAGGTGGAGCTTGCTGTGAGCCAAGATCACGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACAACAACAACAA CAACAAAAACTGGTTGAGAAACTATCACCTCATTTGAGTGTTTATCCACC CACCTGTGAGTTCTGCAAGGCAGAGTTGCTCCCCTAACTCCACCATGCTC ATATTCTATCATCCTTTTATTTCCTGACTCTAAAATATCTTAATCAGAAA AAAGTTTGTTGGGAAAAATGACATGGTCTTCGCAGTTTTTAAACCTCCTG CTTGCCTCTTAGTTACTGTCAATCTTTTTTCCTCCATCTATCACCTTGCA CACAAAATGAAGATAATGCATCTCTGTCCCTCACTAGTCACATGTAATAT TTGATTAACAACTTGAAGAGGCAATCCTTTGTGACTGGAGTCAATATGTG TTTATTTATCAAGAATCTATAATATTATTGAGCTAAAATCCTGGGGATAG CTTGTGATGCCATTGTTACAAGAATAGAATTTTAGAATGAGATTTTTCAA AATGTAAATTGTTACATTTTCTTCATTATGATCTTTCTCAATTATATCCA TTAAAAATCAGTTAATGTCCACAGAACATTTCTTATACTTAAGGAGAGGG TTTGACCATTCTATCACCTTTCAGAAATACATTACATGAAAAAGCAGTTG AAAAACTCAGATCTCCCGCAACAGAATAAATTGGAAATTTCTTAAAAAGT AGTTGAACAGTAAGCTTTTTTAAAATGCTAAATCACAATAATGTATACTT CATTTTAAAAATTCTCTCAAAATCAGTTACAAATATCTTTCCAACTCCAG AGTCTCCAGCCTCATTTGATTCCTTAATTTTCCTCCACAGCTCCTGAAAA TTACTTCACCATCATTTTTGAGGAATAAATGAGAAAACATAGTGAAAGTA CTTTGAAAACTATAAAACCTGTGCATGGAAGTTATCAACAACATGGATCA ATGGTTAAGAGTCATAACCGGCCGGGCGCGGTGGCTCACGCCTGTCATCC CAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0180 a0001c0001t0020g0180	1	300	0.0033	-1216	c.467 others(17): Show c.467+8421_468-8548del	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
SDHA_chr5_213320_262082	260305	GAGCATTA others(1209): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTC CGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTC CCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	235	0.0043	-1216	c.38 others(11): Show c.3886_*5101del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3224		chr5	TogoVar
NPIPA2_chr16_14737533_14770462	14767639	CCAACACT others(1208): Show CCAACACTTTGAGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCGA GAGCAGCCTGACCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAGA TTAGCCAGGCATGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCT GAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCAG GATCACGCCATTGCAGTCCAGCCTGAGCAACAGAGCAAGACTCTGTCTCG AGACAATAAAAACACACAAAAAATTAACTCGCCATGATGGCACATGCCTA TAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTCCCTTCAGCCCAG GAGTTTGAGGCTGCAGTGAGCCACTATGATTGTGCCACTGCACTCTAACC TGGGCAAAAGCGAGACCCCAGGCTAGAGTGCATGATTTTGGGTCACTGCA ACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCTTGAGTA CCTGGGACTACAGGCATGTGCCACCACGCCTGGGTAATTTTTGTATTTTT AGTAGAGACAGGGTTTAGTAGAGACCATGGTGAAACCCCGTCTCTATTAA ACAAATCTCTACTAACCCCATCTCTACAAAAAACAGCTGGGCGTGGTAGT GCACACCTGTAATTCTAGCTACTTGGGAGGCTGAGGCACGAGAATCATTT GCATCTTGGAGGCAGAATTTGCAGTGAGCTGACATCGCACCACTGCGCTC CAGCCGGGATGACAGAGCAAGACCCTGTCTCAAAAAAAAGAAAAAGGAAC AAACAACAGCAACGACAACAAAAAAACCTCTGTGTCAATCACAGCCTACA AGCTAGGGGAGAGGCGGCCGAATTCTGCCCTCTGCTAACTAACTATAGCT TTGTGGAAATGGGTGAGTGGCGTGCCCTTGTGAGCCTCAGGGCCCCATCT GTAAAATGGGCATAACTGTCATGCCCGTCTTTAAGAACAGCCTTGGGGGT AAATGAGTGGAAGTCATGGAAAGATCTCAGCCCACAACCTTCCACAGAAC AGACGCTTCTCACACAGTAAGTAGCAGGAGTGCAGAGGCTGCAGGCATGA ATCCAGCCAGACTGCCTGGGTTCAAGTCCCAGCTCCCACGTCTTGGTAAC TATGTGGCCTCAGACAAGTTACTTAATATTTCTTTTTTTTTTTTTTCAGA CGGAGTTTTGCTCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	204	0.0049	-1215	c.22 others(11): Show c.2227_*3441del	NPIPA2	ENSG00000254852.9	transcript	ENST00000529166.6	protein_coding		2178		chr16	TogoVar
ADARB2_chr10_1172313_1742525	1237498	CTCCCGGT others(1207): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT TCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCC TCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0016 a0008c0008t0016	a0008c0008t0016g0003 a0008c0008t0016g0003	1	104	0.0096	-1214	c.136 others(19): Show c.1361+3419_1362-3654del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737086	GTGTGAGT others(1207): Show GTGTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGC ATGTGACCATCCGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGTGACC GTCCGTGTGAGCGTGTGACCATCCGTGAGAGTGTGACCATCCATGTAAGC ATCCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGA GTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGT GTGAGCGTGACCGTCCGTGAGTGTGTGACCGTCCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGTGT GTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGTGACCGT CCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGTGACC ATTCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGT GAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGA GCATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCC GTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCC GTGTGAGCGTGACCATCCGTGTGTGTGACCATCCGTGTGAGTGACCATCC ATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGACT GTCCGTGTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGA GCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGAGC ATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGT GTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGT GAGCGTGTGACCGTCCGTGTGAGTGTGTGACCATCCGTGTGAGAGTGTGA CCATCCATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTGACTGTCCGT GTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCC GTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCGTGTGAGAGTGTGACC ATCCATTTGAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGACC ATCCATGTGAGCATC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0242 a0001c0003t0003g0242	1	234	0.0043	-1214	c.603 others(17): Show c.603-6241_603-5028del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
OLFM3_chr1_101797560_102001926	101822807	CCTTATGT others(1207): Show CCTTATGTAAGCAATGTTTACCTATTGTATATTAACCATAAACTCCACAA CTTGAATTATAAAAGCAGAGCATGTAAAATAATTATTTAAGTGCTATGTT AAATAAATAACTTTTCCCTTGCTTAGTCTTATCATGCCCTGCCATTTTGA CTCAAATAGGATGTGGCTAAAAAGATGCATTTCTTGTTATGAGTAAAATA GATCATTCTCTGCTACTTGAAATAGGTAATATGGTTGAAAAGTGTAGAAA TTATTCCTATGACTCCTTATAGAGTAAATTTATTCACCAGATATTTATTG AGTGACTTTTCTTTGCCAGGTAGTTTTCTAGGCATTGGAAGATACAACAT GTAGAGTGAACATGATAGACATTGTTCTTGTCCTCGGAAAAAAAGTCTAG CAAGACACATTATGCTACACATGCAATGATAATGAAACAAGAGAAGTCCA ATCATTAGTGAAATATCAGGATTTGGAAGTGCCTAGCGAGGACACCAGCT TAGTCTGGGAGGGCAATGAATGATTCTAGCAAGACACAACATTTAAACTG AGACCTGACAAATGAATAGTTTATCACATGTGGCAGGTGAAAGTGCGTTG ATGGAGGCAGGGTACATAGGGGAAGGAGTGTTTCAGGAGCAGGAACAAAC AGCATCTTATAACAACTCCATGGTAAGACATTGTAAGGCACACATGACTG GGACTTAGTGTGTGAGGAGAGAAGTGGCAAAAGCTAAGCCTGGAGAAGCA GAAGGGGCCACACATGAAGGGTCACATAAGCCATGGACTGTATCCTACAA CATAAGGAATCCATAGGAGATTTTCAACAGAGCAAAATAATTTCAGATTG ATACTTCAGAAAATCCCTTTGGCAATAATGTGTACAATGAGTTAGAGAGG AATGAAAACTGGAGTCACAGAATCTATTATATATAGTTGATTGTTAGAAG ACCAACTGTAAATGAGAAAATGTAGACTGTGTTTGAGGAGGAATAAAGAA CTGAGGATTCTTGAACATGTGTTTCGGCCTTCAGGTTTACCTTATTTCCT CCTGATTCATTTTGTTGGATTCTCTTAGAAATCCTGGTATGATGACAGTG GAGCCTCCGATGTAGCAATTTCCCACACTATTTTGAGGCTGTGATAACTG AATGCAACATTTTGCATTTTGGATTCCTTTTTATCACTTGAAGCATATTT GTAAAATAGTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0275 a0001c0001t0009g0275	1	304	0.0033	-1214	c.592 others(17): Show c.592+1005_592+2218del	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	4/5			chr1	TogoVar
BRWD3_chrX_80664503_80814877	80712568	CACCCTGT others(1206): Show CACCCTGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCTGCCCATCGTCTG GGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGC GTCTCTGCCCAGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCC GGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCCGCCCCGT CTGGGATGTGAGGAGCATCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTG AGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCG CCTGGCAACTGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCC GCCCCGTCTGAGAAGTGAGGAGCTCCTCCGCCCGGCACCCACCCCGTCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGCCAGCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGTTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCA TGATGACAATGGCGGTTTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAA AGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAAAGAAGTAGACAT GGGAGACTTTTCGTTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGG ATCCTGTTGATCTATGACCTTAACCCCAACCCTGTGCTCTCTGAAACATG TGCTGTGTCCACTCAGAGTTAAATGGATTAAGGGCGGTGCAAGATGTGCT TTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCAC TCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGG TCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGA CCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGA GACACCCAAGAATGATCAATAAAAAAATAAAAAATAAAAAAAACAAATAA TAAATCTTAGATTACTTCTAACAACAGAAGGGAAAGGACTCAAAACAATC TACATACAAAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0126 a0001c0001t0002g0134	2	263	0.0076	-1213	c.232 others(19): Show c.2325+2376_2326-2992del	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	20/40			chrX	TogoVar
ROBO2_chr3_77035099_77654964	77294550	AAGACATA others(1206): Show AAGACATAAAGTAAAATTGACGGTTAAACAGGTAAGCTGAGGCTAGATCA TCAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGA TCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCT AGATCACCAAAGACATGAAGTAAAATTGATGGTTAAACGGGTAAGCTGAG GCTAGATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCT GAGGCTAGATCACCCCAGACATAAAGTAAAATTAATGGTTAAACGGGAAG TTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGACAGTTAAACAGGT AAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACG AGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGACGGTTAA ACGGATAAGCTGAGGCTAGATCACCAAAGACTTAAAGAAAAATTGATGCT TAAACGGGTAAACTGAGGCTAGAGCACTAAAGACATAAAGTAAATTTGAC GGTTAAAAAGGTAAGCTGAGGCTAGGTCACCCCAGATATAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGTAAA ATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTA AAATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATTAAG TAAAATTGACGGCTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACATA AAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGAC ATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTAAAG ACATAAAGTAAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCACCC CAGACATAAAGTAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCAC CAAAGTCATAAAGTAAAATTGACTGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCACACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGC TAGATCACTAAAGACATAAAGTGAAATTGACGGTTAAACGGGTAAGCTGA GGCTAGATCACCCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0102 a0001c0001t0032g0102	1	160	0.0063	-1213	c.389 others(21): Show c.389-182844_389-181632del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
STARD13_chr13_33098137_33290755	33161841	TAAAGGCC others(1206): Show TAAAGGCCCTTCTTACATGGTGGTGACAAGAGAAAATGAGGAAGATGCAA AAGCGGAAACCCCTGATAAAACCTTCAGATCTTGTGAGACTTATACACTA CCACAAGAACAGTATGGGGGAAACTGCCCCCCATGATTCAAATTATCTCC CACCGGGTCCCTCCTATAACATGTGGCAATTATGGGAATACAATTCAAGA TGAGATTTGGGTGGGGACACAGCCAAACCATATCATTCCACCTCTTGCTC CTCCAAATCTCATGTCCTCACATTTCAAAACCAGTCATGCCTTCCCAACA GTCCCCCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCATAGTC CAAAGTCTCATATGAGACAAGGCAAGCCCCTTCTGCCTACGACACAGGGC ACCAAGTGCCTAGGCTGCAAACAGATAAGGACCCTGGGCCTGGCCCATGA AACCAGTTTTTCCTCCTAGACTTCCAGGTCTATGATAGGAGGGACTGCTG TGAAGACCTATGACATGTCCTGGAGACATTTTCCCCATTGTCTTGGGGAT TACCATTTGGCTCCTTGACACTTATGCAAATTTCTTCAGCCAGCTTGAAT TTCTCCTCAGAAAATGTGTTTTTCTTTTCTACTGCATCGTCAGGCTGCAA ATTTTCTGAACTTTTATGCTCTGTTTCCTTTTTAAAATGGAATGCCTTTA ACAGCACCCAAGTCACCTCTTGAATGCTCTGTTTGCTGCTTAGAAATTTC TTCTGCCAGATACCCTAAATCATCCTTTCAAGGGCAGGGGCAAAATGCCA CCAGTCTCTTTGCTAAAACATAACAAGAGTCACCTTTGCTCCTGTTCCCA AGAAGTTCCTCATGTCCATCTGAGACAACCTCAACCTGGACTTTATTATT CATATCACTATCAGCATTTTTTTTTTTCAAAGCCAATCAACAAGTTTCTA GGAGGTTCCAAACTTTCCCACATTTTCCTGTCTTCTTCTGAGCCTTCCAC ACTCTTTCAACTTCTGCCTGATACCCAGTTCCAAAGTTGTTTCCACATTT TCAGGTATCTTTTCAGAAACACCCCACTCTCGGTACCAATTTATTGTATT AGTCCATTTTCACACTGCTGATAAAGACATACCCAAGACTGGGAAGAAAA AGAGGTTTAATTGGACTTACAGTTCCACATGGCTGGGGAGGCCTCAGAAT CATGGCGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	300	0.0033	-1213	c.323 others(17): Show c.323+2283_323+3495del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
UNC119B_chr12_120705458_120728640	120714377	GTGGCACA others(1206): Show GTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGCT TCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCACCACCA TGCCTAGCTAATTTCTGTATTTTTAATAGAGACGGGATTTCACCATGTTG GTCAGGCTGGTGTCAGACGCCTGACCTTTGATTCGCCTGCCTTGGTCTCC CAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGTTGCTTATGGG TAGTTTTTTATTGGGATGGTCAGATCAAGACCAGCTAGCTTCCTGGGTCT GTGGTGTTCTCATCTCTAAGCCACATATCACAGTACCTGGGACATTGCAA GGACTCCAGGCCTACTACAGGTATGTGGATTTGGATTAGACTCAAGAGTT GTCATTTCAATATAAGACGGAACTGTTTCAAGAAGGTCAGCTGAAGATAC TGTAAAGTATCTTGGTTTTCAGTCTCTCTAGTTTTTACATTTAAGGATCT TGATTCACTTGTAATATTCCCCACATTGAGGCTGGGTGCGGTGGATCACA CCTGTAATTCTAGCACTTCGGGAGGCTGAGGCAGGCAGATCACTTGAGCC CCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTGTACA AAAAATACAAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGGTCCCA GCTACTCAGGAGGCTGAGGTGGAAGGATGGCTTGAGCCTGGGAGATCAAG GCTGCAGTGAGCCGTGATCACTGCATTGCACTCCAGCAAAGGTGACAGAG TGAGACCCTATCTCAAAATAAATCAATAAATATAAACAACAGATTATCCT CACACTGAATCACTACCTTTCTGCAGCACTTGTTCTGATGAATTTGAATC CCCAAGATTTGCTGTCTCTCTGAGTCACATTGTTGGAGCCAGGGTTTTAG AGTCTCTGGGGGTGAACCCCTACTCAGCCTGGTTGCCCAGTCGCTCTTGG GCTTGTCAAAAGCAGAGATGTTTGATGCTGAAAAAGTCTTCTCTTATGTT GTACTCATGTACAGCTTAGACCTGGAGAAAATATCCTCACTGGACACTGG AGGGTACTAACTCCTATTCACATTAGAATGCTTGTTCTCTGATTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC AGGCTGGAGTGCAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0030 a0001c0001t0019g0030	1	396	0.0025	-1213	c.358 others(17): Show c.358+1002_359-1027del	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
S1PR4_chr19_3173769_3185332	3174555	TCTCATGG others(1205): Show TCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGAC GCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCT CATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGT GCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT CTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTC ATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGT TCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCT CATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GCGTTCTCATGGGACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGG GACACCTGTGTTCTCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCC CTCATGGGATGCCTGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATG CCTGTACCCTCATGGGACGCCTGTACCCCTCATGGGACATCTGTGCTCTC ATGGGATGCCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCT GCATTCTCATGGGACACCTGTGCCCTCATGGGATGCCTGTACCCTCATGG GACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 HG01515.hp2 HG01517.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	415	0.0072	-1212	c.-42 others(11): Show c.-4237_-3026del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4213		chr19	TogoVar

Search by Variant

Search

Search Results