Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MLPH_chr2_237482251_237560322	237543906	G G	GGGGGACA others(419): Show GGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0152	1	286	0.0035	426	c.153 others(445): Show c.1539+1248_1539+1249insGGGACAGTGGCAAGTGGGCACGGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(419): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	426	c.18 others(437): Show c.1863_*1864insTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCC AGGCTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCC GGTTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GTACTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCT GCCAGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGT CACCCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAA CACCTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTAT GAGCTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TTATTATA others(419): Show TTATTATATATTATAATATATTATATATTATAATATATATTATATATTAT AATATATTATATATTATAATATATATTATATATTATAATATATTATATAT TATAATATATATTATATATTATATATTATAATATATATACCTGATATATT TAAGGTATTATATATAATACCTTATATATTATATATATAATACCTTATAA GGTATTATATATAATATTATATATTATATATAATATATATATTATATATA ATATATAAATGTATATATTATATATTATACATATATATTATATACATATA TTATATATAATATATATTTTATATATTATATATGTATATATGTAATATAT ATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATAT GTTATTTTGTGTATATATAAAGTATTA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18968.hp1 HG03492.hp1 NA18968.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0265 a0005c0007t0001g0175 a0001c0001t0001g0265 a0005c0007t0001g0175	2	332	0.0060	426	c.210 others(445): Show c.2107+1850_2107+1851insTATATATTATAATATATTATATATTA TAATATATATTATATATTATAATATATTATATATTATAATATATATTATA TATTATAATATATTATATATTATAATATATATTATATATTATATATTATA ATATATATACCTGATATATTTAAGGTATTATATATAATACCTTATATATT ATATATATAATACCTTATAAGGTATTATATATAATATTATATATTATATA TAATATATATATTATATATAATATATAAATGTATATATTATATATTATAC ATATATATTATATACATATATTATATATAATATATATTTTATATATTATA TATGTATATATGTAATATATATAACCTTCACATTTATTTCAGTTATATAA TGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAGTATTATAT		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(419): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAA TCTTATTTTATATATATTTTATATATATTTTATATATATAAAATCTTTAT ATATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAAT CTTTATATATATTTTATATATATAAAATCTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATAT ATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0033 a0001c0006t0009g0033	1	330	0.0030	426	c.-5+ others(441): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATAT ATATAAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATT TTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATATA AAGATTTTATATATATAAAATATATATAAAATATATATAAAATAAGATTT TATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATATAA AATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATA TAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATA AGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATATAT others(419): Show ATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATATAA AATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATATT TTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTT TATATATATTTTATATATATTTTATATATATAAAATCTTTATATATATTT TATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATAT ATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	330	0.0030	426	c.-5+ others(441): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAA TATATATAAAGATTTTATATATATAAAATATATATAAAATATATATAAAA TAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATAAAAT ATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTA TATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAA AATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATA TAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATA AGATTTTATGTATATAAAATATATATAAAATAAGATTTTATATATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(419): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19077.hp1 NA19083.hp2 HG02559.hp1 NA19077.hp1 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0141 a0003c0003t0001g0148 a0003c0003t0001g0267 a0003c0003t0001g0141 a0003c0003t0001g0148 a0003c0003t0001g0267	3	364	0.0082	426	c.394 others(441): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATAT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(419): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	364	0.0028	426	c.394 others(441): Show c.394-735_394-734insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATAT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC5B_chr11_1218066_1267172	1244155	G G	GCCCTCCT others(419): Show GCCCTCCTCCACTCCAGGGACGACCTGGATCCTCACAAAGCAGACCACAG CAGCCACTACGACTGCAACCACTGGATCCACGGCCATCCCGTCCTCCACC CCGGGAACAGCTCCCCCTCCCAAAGTGCTGACCAGCACGGCCACCACACC CACAGCCACCAGTTCCAAAGCCACTTCCTCCTCCAGTCCAAGGAATGTAA CCACCCTTCCAGTGCTGACAAGCACAGCCACCACACCCACAGCTACCAGC TTTACACCCATCCCCTCCTCCACCCTTGGGACCACCGGGACCCTCCCAGA ACAGACCACCACACCCGTGGCCACCATGTCCACAATCCACCCCTCCTCCA CTCCGGAGACCACCCACACCTCCACAGTGCTGACCACGAAGGCCACCACG ACAAGGGCCACCAGTTCCACGTCCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0107 a0107	a0107c0113 a0107c0113	a0107c0113t0003 a0107c0113t0003	a0107c0113t0003g0173 a0107c0113t0003g0173	1	350	0.0029	426	c.728 others(435): Show c.7289_7290insAGGGACGACCTGGATCCTCACAAAGCAGACCACAGC AGCCACTACGACTGCAACCACTGGATCCACGGCCATCCCGTCCTCCACCC CGGGAACAGCTCCCCCTCCCAAAGTGCTGACCAGCACGGCCACCACACCC ACAGCCACCAGTTCCAAAGCCACTTCCTCCTCCAGTCCAAGGAATGTAAC CACCCTTCCAGTGCTGACAAGCACAGCCACCACACCCACAGCTACCAGCT TTACACCCATCCCCTCCTCCACCCTTGGGACCACCGGGACCCTCCCAGAA CAGACCACCACACCCGTGGCCACCATGTCCACAATCCACCCCTCCTCCAC TCCGGAGACCACCCACACCTCCACAGTGCTGACCACGAAGGCCACCACGA CAAGGGCCACCAGTTCCACGTCCACCCCCTCCTCCACTCC	p.Pro others(441): Show p.Pro2430_Gly2431insGlyThrThrTrpIleLeuThrLysGlnThr ThrAlaAlaThrThrThrAlaThrThrGlySerThrAlaIleProSerSe rThrProGlyThrAlaProProProLysValLeuThrSerThrAlaThrT hrProThrAlaThrSerSerLysAlaThrSerSerSerSerProArgAsn ValThrThrLeuProValLeuThrSerThrAlaThrThrProThrAlaTh rSerPheThrProIleProSerSerThrLeuGlyThrThrGlyThrLeuP roGluGlnThrThrThrProValAlaThrMetSerThrIleHisProSer SerThrProGluThrThrHisThrSerThrValLeuThrThrLysAlaTh rThrThrArgAlaThrSerSerThrSerThrProSerSerThrPro	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	7348/17911	7290/17289	2430/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5B_chr11_1218066_1267172	1248002	T T	TCCACGGC others(419): Show TCCACGGCCATCCCGTCCTCCACCCCGGGAACAGCTCCCCCTCCCAAAGT GCTGACCAGCACGGCCACCACACCCACAGCCACCAGTTCCAAAGCCACTT CCTCCTCCAGTCCAAGGACTGCAACCACCCTTCCAGTGCTGACAAGCACA GCCACCACACCCACAGCTACCAGCTTTACACCCATCCCCTCCTCCACCCT TGGGACCACCGGGACCCTCCCAGAACAGACCACCACACCCGTGGCCACCA TGTCCACAATCCACCCCTCCTCCACTCCGGAGACCACCCACACCTCCACA GTGCTGACCACGAAGGCCACCACGACAAGGGCCACCAGTTCCACGTCCAC CCCCTCCTCCACTCCGGGGACGACCTGGATCCTCACAGAGCTGACCACAG CAGCCACTACAACTGCAGCCACTGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0107 a0107	a0107c0113 a0107c0113	a0107c0113t0003 a0107c0113t0003	a0107c0113t0003g0173 a0107c0113t0003g0173	1	350	0.0029	426	c.111 others(437): Show c.11131_11132insTCCCGTCCTCCACCCCGGGAACAGCTCCCCCTCC CAAAGTGCTGACCAGCACGGCCACCACACCCACAGCCACCAGTTCCAAAG CCACTTCCTCCTCCAGTCCAAGGACTGCAACCACCCTTCCAGTGCTGACA AGCACAGCCACCACACCCACAGCTACCAGCTTTACACCCATCCCCTCCTC CACCCTTGGGACCACCGGGACCCTCCCAGAACAGACCACCACACCCGTGG CCACCATGTCCACAATCCACCCCTCCTCCACTCCGGAGACCACCCACACC TCCACAGTGCTGACCACGAAGGCCACCACGACAAGGGCCACCAGTTCCAC GTCCACCCCCTCCTCCACTCCGGGGACGACCTGGATCCTCACAGAGCTGA CCACAGCAGCCACTACAACTGCAGCCACTGGCCCCACGGCCA	p.Ala others(441): Show p.Ala3710_Thr3711insIleProSerSerThrProGlyThrAlaPro ProProLysValLeuThrSerThrAlaThrThrProThrAlaThrSerSe rLysAlaThrSerSerSerSerProArgThrAlaThrThrLeuProValL euThrSerThrAlaThrThrProThrAlaThrSerPheThrProIlePro SerSerThrLeuGlyThrThrGlyThrLeuProGluGlnThrThrThrPr oValAlaThrMetSerThrIleHisProSerSerThrProGluThrThrH isThrSerThrValLeuThrThrLysAlaThrThrThrArgAlaThrSer SerThrSerThrProSerSerThrProGlyThrThrTrpIleLeuThrGl uLeuThrThrAlaAlaThrThrThrAlaAlaThrGlyProThrAla	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	11190/17911	11132/17289	3711/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(419): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATATA ATATATATTATATAAAATATATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTTTATAAAATATATAT TATATTATATAATATATATTTTATAAAATATATATTATATTATATATAAT ATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18971.hp2 NA18941.hp1 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0070 a0001c0003t0001g0022 a0001c0003t0001g0070	2	368	0.0054	426	c.51 others(437): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATATATTTTATATAATATATATTATATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTTTATATAATATATATT ATATATAATATAATATATATTATATATAATATATATTATATA		MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding					4927		chr12	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(419): Show TGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19003.hp1 NA18957.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0042	2	170	0.0118	426	c.229 others(445): Show c.2295+1712_2295+1713insTCCCTTCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACC		MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085831	G G	GCACCCCA others(419): Show GCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCTGTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTGCGTGGCACCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC ACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCC CCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCC CCCCACAGTCGTGATCTCTGCGTGGCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0037 a0002c0015t0001g0038 a0002c0015t0001g0037 a0002c0015t0001g0038	2	403	0.0050	426	c.164 others(443): Show c.1644+442_1644+443insACCCCACTGTCGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGT GGCCCCCCACTGTTGTGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCACCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACT GTTGTGATCTTTGCGTGGCCCCCCACTGTCATGATCTCTGGCACCCCACT GTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPH2_chr22_50503224_50529780	50504144	C C	CCCCCCCC others(419): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCACCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCT TACCCCTGCACCCCAGGCTCCACACCCCACCCCCGGTGCCCGGCCTTACC CCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	384	0.0026	426	c.-41 others(437): Show c.-4194_-4193insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCC ACACCCCACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCA		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4079		chr22	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(419): Show CATATGTATATACACATATGTATATATGTATATATACACACATATGTATA TACACATATGTATATATGTATATATACACACATATGTATATACACATATG CATATATGTATATATACACACATATGTATATACACATATGCATATATGTA TATATACACACATATGTATATACACATATGCATATATGTATATATACACA CATATGTATATACACATATGCATATATGTATATATACACACATATGTATA TACACATATGTATATATGTATATATACACACATATGTATATATACACATA TGTATATATGTATATATACACACATATGTATATACACATATGTATATATG TATATATACACACATATGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0062 a0001c0001t0023g0062	1	64	0.0156	426	c.409 others(443): Show c.409+6947_409+6948insATACATATGTGTATATACACATATGTGT GTATATATACATATATACATATGTGTATATACATATGTGTGTATATATAC ATATATACATATGTGTATATACATATGTGTGTATATATACATATATACAT ATGTGTATATATACATATGTGTGTATATATACATATATACATATGTGTAT ATACATATGTGTGTATATATACATATATGCATATGTGTATATACATATGT GTGTATATATACATATATGCATATGTGTATATACATATGTGTGTATATAT ACATATATGCATATGTGTATATACATATGTGTGTATATATACATATATGC ATATGTGTATATACATATGTGTGTATATATACATATATACATATGTGTAT ATACATATGTGTGTATATATACATATATACATATGTGTATATACATAT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEU4_chr2_241804193_241822413	241807495	T T	TCCCTCCT others(419): Show TCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAAC CCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTC GGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCC TCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGG ACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGC CACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	426	c.-17 others(437): Show c.-1783_-1782insCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCC TCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCT CAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCGGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCC CTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1697		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(419): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0326 a0001c0001t0112g0326	1	366	0.0027	426	c.47 others(435): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(419): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0278 a0001c0001t0124g0278	1	366	0.0027	426	c.47 others(435): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678103	A A	ATCCATTC others(419): Show ATCCATTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0111 a0001c0001t0054 a0001c0001t0111	a0001c0001t0054g0098 a0001c0001t0111g0063 a0001c0001t0054g0098 a0001c0001t0111g0063	2	366	0.0055	426	c.47 others(435): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCATCCATCCGTCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(419): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATAT ATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTAT ATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	362	0.0028	426	c.-75 others(445): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATA TATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(419): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTG TGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGT ATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATG TATACTGTATATATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	362	0.0028	426	c.-75 others(445): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACATACAGTATACATACATACAG TATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(419): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	356	0.0028	426	c.91+ others(439): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGG TGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGG others(419): Show CGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	356	0.0028	426	c.91+ others(439): Show c.91+419_91+420insGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAG GGAGTCGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132155779	C C	CACACACT others(419): Show CACACACTACACGCACACAGTACACACACCACTACACACACTACACACAC CACTACACACACACCACTACACACACTACACCACTACACACACCACTACA CACACTACACGCACACAGTACACACACCACTACACACACTACACGCACAC AGTACACACACCACTACACACACTACACACACCACTACACACACACACCA CTACACACACTAGATACACCACTACACACACCACTACACACACTACACGC ACACAGTACACACACCACTACACACACTACACACACTACACACACACCAC TACACGCACACACTACACACACCACTACACACACACTACATACACCACTA CACACACCACTACACATACTACACACACAGTACACACACCACTACACACA CTACACGCACACAGTACACACACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG03225.hp1 NA18522.hp2 HG00733.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0292 a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0292	3	294	0.0102	426	c.33 others(437): Show c.3378_*3379insACACACTACACGCACACAGTACACACACCACTAC ACACACTACACACACCACTACACACACACCACTACACACACTACACCACT ACACACACCACTACACACACTACACGCACACAGTACACACACCACTACAC ACACTACACGCACACAGTACACACACCACTACACACACTACACACACCAC TACACACACACACCACTACACACACTAGATACACCACTACACACACCACT ACACACACTACACGCACACAGTACACACACCACTACACACACTACACACA CTACACACACACCACTACACGCACACACTACACACACCACTACACACACA CTACATACACCACTACACACACCACTACACATACTACACACACAGTACAC ACACCACTACACACACTACACGCACACAGTACACACACCACT		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					3312		chr12	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(419): Show AAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0166 a0002c0006t0003g0166	1	208	0.0048	426	c.-10 others(447): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTT TT		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32						chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(419): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTCTCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCC TTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0305 a0001c0001t0106g0305	1	326	0.0031	426	c.433 others(443): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GAGAGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAA GGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGGAGGGGAGGGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAC		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(419): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCTTCCCTCT CCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0165 a0001c0001t0067g0165	1	326	0.0031	426	c.433 others(443): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(419): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCT CCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCC CTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	326	0.0031	426	c.433 others(443): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NTM_chr11_131365615_132341822	131681289	G G	GTCTGTGT others(419): Show GTCTGTGTAGGCATGTGTGCCTCTGTGTGTGAGATCATGCCTGTGTCTGT GTCTGTGAGTGCCTGTGTGTGTGTGCATATGTTTGTGTAGGCATGTGTGC CTCTGTGTCTGTGTGTGAGATCATGCCTATGTCTATGTCTGTGAGTGCCT GTGTGTGTGTGTGTGTGTGTGTCTGTGTGTCTGTGTAGGCATGTGTGCCT CTGTGTGTGTGAGATCATGTCTGTGTCTGTGTCTGTGAGTGCCTGTGTAT GCATATGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT GCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGTAGGC ATGTGTGCCTCTGTGTCTGTGTGTTTGTCTTCTTCTGTGTCTGTGAGTGC CTGTGTGTGTGTGAGCATGCGTGCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	86	0.0116	426	c.83- others(445): Show c.83-230275_83-230274insTCTGTGTAGGCATGTGTGCCTCTGTG TGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCA TATGTTTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCC TATGTCTATGTCTGTGAGTGCCTGTGTGTGTGTGTGTGTGTGTGTCTGTG TGTCTGTGTAGGCATGTGTGCCTCTGTGTGTGTGAGATCATGTCTGTGTC TGTGTCTGTGAGTGCCTGTGTATGCATATGTCTGTGTAGGCATGTGTGCC TCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTG TGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTTTG TCTTCTTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGAGCATGCGTGCTCC		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCTGA others(419): Show CCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAC GGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCAAGCA GGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCAT CTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	242	0.0041	426	c.361 others(445): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGAC CTGCTTGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGT GTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCAC CGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCA others(419): Show TCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCC CTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTC CTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCT CCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTCC TTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTACTTCCCTCCCTCCCT GCCTCCCTCCTTTCCTCCCTCCCTCCTTCGCTCCCTCCCTGCCTCCCTCC TTTCCTCCCTCCCTCCTTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03225.hp1 HG02809.hp2 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176 a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176	3	350	0.0086	426	c.-15 others(437): Show c.-1513_-1512insCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTC CTCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTC CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCT TCCCTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTA CTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCGCTCCC TCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1349		chr16	TogoVar
PDE10A_chr6_165322289_165668241	165619400	T T	TAGCCTAG others(419): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCTAGTGTA CTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGTAGTGTA GTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTA GTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTA GTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTA GTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTA GTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGTA CTGTAGTGTAGTGCAGTGGTCTAGTGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0110 a0001c0009t0003g0110	1	222	0.0045	426	c.865 others(445): Show c.865+42546_865+42547insGCACTAGACCACTGCACTACACTACA GTACACTAGACTACACTAGACTAGACTACATTACACTACAGTACACTAGA CTACACTACACTAGACTACACTACACTACACTACACTACAGTACACTAGA CTACACTAGACTACACTACACTACACTACAGTACACTAGACTATACTACA CTACACTGGACTACACTATACTAGACTACACTAGACTGTACTACACTAGA CTACACTGCACTACACTACAGTACACTAGACTACACTAGACTACACTACA CTACACTACACCACACCACACCACACTAGACTACACTATACTACACTACA GTACACTAGACTACACTACACTATACTAGACTACACTAGACTACACTACT ACACTACACTAGCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCT		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21						chr6	TogoVar
PIEZO1_chr16_88710338_88790220	88728945	G G	GCCCCATC others(419): Show GCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCT CGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACA GAGGGAACCTTGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACC CAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGA CCCAAAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATC TCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACAAAGTG ACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTG CCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGACCCTCGATGCTGGG GAACCCAGGACATTCTGAACCCACAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0076 a0076	a0076c0146 a0076c0146	a0076c0146t0003 a0076c0146t0003	a0076c0146t0003g0020 a0076c0146t0003g0020	1	282	0.0036	426	c.319 others(445): Show c.3197-1285_3197-1284insGCTGTGGGTTCAGAATGTCCTGGGTT CCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTG GCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGG TCACTTTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTG AGATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTGG GTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCT GGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCAAGGTTCCCT CTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATC GAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGG		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50						chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729657	C C	CCAAAAAC others(419): Show CCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACGTGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGC CACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGG AACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTC GTGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATTCT GAACCCACAGCCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACA AAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCC ATCTGCCACAGAGGGAACCTCGCGACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0034 a0034	a0034c0050 a0034c0050	a0034c0050t0001 a0034c0050t0001	a0034c0050t0001g0053 a0034c0050t0001g0053	1	282	0.0036	426	c.319 others(445): Show c.3197-1997_3197-1996insTGTCGCGAGGTTCCCTCTGTGGCAGA TGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACT TTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGGGCTGTGGGTT CAGAATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCA CGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGT TCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGT GGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGG GTCACTTTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGT GGGTTCAGCACGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTG		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50						chr16	TogoVar
PLEKHG4B_chr5_87168_194966	165265	C C	CACTAACG others(419): Show CACTAACGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATC CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGACGGGG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCT GACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTGTGACGGGGCGGAGCTCACACAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0029 a0029	a0029c0059 a0029c0059	a0029c0059t0040 a0029c0059t0040	a0029c0059t0040g0158 a0029c0059t0040g0158	1	210	0.0048	426	c.347 others(445): Show c.3476+1717_3476+1718insACTAACGCTCTGACGGGGCGGGGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCG GAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAAT GCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCAC ACTAATGCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGG GGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACACTAATGCTC TGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACAG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19						chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(419): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGG GGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGC GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGG GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGG GGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	354	0.0028	426	c.-27 others(435): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCC TCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAAC CCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGT CCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCC CCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCG CCGCTGCCGTCCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCTCC CCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCG CCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					210		chr19	TogoVar
PLPP2_chr19_276043_296403	291613	G G	GGGGGGAC others(419): Show GGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGG AGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	354	0.0028	426	c.-27 others(435): Show c.-278_-277insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCC GCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCC GCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					211		chr19	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(419): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGAGGGAGGGGAGGGGCGGGGAGGGGAGGGAGGA GGGAGGGGGAGGGGAGGAGGGAGGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGGAGGGGGAGGGAGGAGGGGCGGGGAGGGGAGAGGG GGAGGGGAGGAGGGAGGGGGAGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	354	0.0028	426	c.-27 others(435): Show c.-279_-278insTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTC CCCTCCCCGCCCCTCCTCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTCCC CTCCCCGCCCCTCCTCCCTCCCCCTCCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCC CGCCGCTGCCGTCCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCTC CCCTCCCCGCCCCTCCCCTCCCTCCCTCTCCCCTGCTGCCCTCCCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					212		chr19	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(419): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGAGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGC GGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03453.hp2 NA18522.hp1 HG02572.hp1 HG03453.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0047 a0002c0002t0001g0041 a0001c0001t0001g0047 a0002c0002t0001g0041	3	354	0.0085	426	c.-27 others(435): Show c.-279_-278insTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTC CCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTCC CCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCT CCCCTCCTCCTCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCC CGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTC CCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					212		chr19	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(419): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGC GGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGAGAGGGAGGGGGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	354	0.0028	426	c.-27 others(435): Show c.-279_-278insTCTCCCTCCCCCTCCCTCTCTCCCCTCCCCCCTCTC CCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTCC CCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCC CGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTC CCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					212		chr19	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(419): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGC GGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01175.hp2 others(8): Show HG00099.hp2 HG01074.hp2 HG01175.hp2 HG01975.hp1 HG02622.hp2 HG02630.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03492.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0002c0002t0001g0146	11	354	0.0311	426	c.-27 others(435): Show c.-279_-278insTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTC CCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTCC CCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCC CGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTC CCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					212		chr19	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(419): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG02572.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0094 a0001c0001t0001g0095 a0001c0001t0003g0094	2	312	0.0064	426	c.306 others(445): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397575	T T	TCTCTGAG others(419): Show TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCC TGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0239 a0001c0001t0025g0239	1	340	0.0029	426	c.227 others(443): Show c.227+3447_227+3448insCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCB_chr16_23830983_24225611	23981891	C C	CCTTTTCC others(419): Show CCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACC TTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCC TTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCC TTCCCTTTCCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTTCC CTTCCTCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCTTC CCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCTT CCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTC CCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTAC CCTTCCCTTTCCCTTCCCCTTCTCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0097 a0001c0001t0041g0097	1	148	0.0068	426	c.206 others(443): Show c.206-6616_206-6615insTTTTCCCTTCCACTTCCCCTTTCCCTTC CACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTT CCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTT CCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCCCTT CCCTTTCCCTTCCCCTTTCCCTTCCTCTTCCCTTCCCCTTCCCCTCCCCC TTCCCTTCCCCTTCCCCTTCCCTTTACCTTCCCCTTCCCTTTCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCC TCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTC		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PXDN_chr2_1626887_1749515	1720186	G G	GGAGGGAT others(419): Show GGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGG AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGAGGGAGGGAGGGATGCAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0160 a0001c0005t0007g0160	1	322	0.0031	426	c.200 others(445): Show c.200+24069_200+24070insTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTC TCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTC CCTCCCTCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTG CATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTC TCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCC TCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1720283	G G	GAGAGAGA others(419): Show GAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGA GGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGA GAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCA GAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCA GAGAGAGAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	322	0.0031	426	c.200 others(445): Show c.200+23972_200+23973insGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCC CTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCT		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1720314	A A	AGAGAGAG others(419): Show AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGT AGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAG GGATGCAGAGAGAGAGAGAGGGAGGGAGGGGATGCAGAGAGAGAGAGAGG GAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGGATGCAGAGAGAG AGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAAATGCAGAGAGAGA GAGAGGGAGGGAGGATGCAGAGAGAGAGAGGGAGGGAGGGGATGCAGAGA GAGAGAGATGCACAGAGAGAGGGAGGGGATGCAGAGAGAGGGAGGGATGC AGAGAGAGGGAGGGAGGATGCAGAGAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	322	0.0031	426	c.200 others(445): Show c.200+23941_200+23942insATCTCTGCATCCTCCCTCCCTCTCTC TGCATCCCTCCCTCTCTCTGCATCCCCTCCCTCTCTCTGTGCATCTCTCT CTCTCTGCATCCCCTCCCTCCCTCTCTCTCTCTGCATCCTCCCTCCCTCT CTCTCTCTCTGCATTTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCC TCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTC TCTCTCTCTGCATCCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTGCATCCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTC TACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(419): Show CCTCCCACACCATACACTCCTCCCATGCCTCCCATGCCATACAAGCCCTC CTGTGCCATACACACCCCTCCCACGCCATACACCCCCCTCCCACGCCTCC CACACCATACACCCCTCCCACACCATACACCCCTCCCACGCCTCCCACAC CATACAAGCCCTCCCGTGCCATACACCCCTCCCACAGCATATAACCCCTC CCACGCCATAAAACCCCTCTCACACCATACACCCCCCTCCCACACCTCCC ACGCCATACAACCCCTCTCACACCATACACCGCTCCCATGCCATACACCC CTCCCATGCCTCCCACGCCATACAACCCTCCCATGACATACAGCCCCTCC TACGCCATACAACCCCTCCTGTGCCATACACCCCTCCCACGTCATACACC CCCTCCCACGTCATACATCCCCTCCCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	448	0.0022	426	c.449 others(441): Show c.449-400_449-399insTGGGAGGGGATGTATGACGTGGGAGGGGGT GTATGACGTGGGAGGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGA GGGGCTGTATGTCATGGGAGGGTTGTATGGCGTGGGAGGCATGGGAGGGG TGTATGGCATGGGAGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGG AGGTGTGGGAGGGGGGTGTATGGTGTGAGAGGGGTTTTATGGCGTGGGAG GGGTTATATGCTGTGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGTG TGGGAGGCGTGGGAGGGGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGA GGCGTGGGAGGGGGGTGTATGGCGTGGGAGGGGTGTGTATGGCACAGGAG GGCTTGTATGGCATGGGAGGCATGGGAGGAGTGTATGGTGTGGGAG		RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6						chr22	TogoVar
RPH3AL_chr17_207389_357807	304948	A A	AGAGGGGG others(419): Show AGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAG GGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGG GGACAGGGCGGGAGGGGGACAGGGCGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	133	0.0075	426	c.351 others(445): Show c.351+14471_351+14472insCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCTCACC others(419): Show CCCTCACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTC CCCTCACCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCCTCA CCCTCCCTCTCCCCTCGCCCTCCTCTCCCCTCACCCTCATCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCTCACCCTCCCTCTCCC CTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTTACCTCCCCCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCTCA CCCTCATCCTCCCTCTCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCTCATCCTCCCTCTCTCTCTCCTTCCCTCTCCTT ACCCTCCCTCTCCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0064 a0001c0016t0004g0064	1	262	0.0038	426	c.249 others(445): Show c.2496-1690_2496-1689insAGAGGGAAGGTGAGGGAGAGGGAGGG TAAGGAGAGGGAAGGAGAGAGAGAGGGAGGATGAGGGAGAGGGAGGGTGA GGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGAGAGGGAGGATGAGG GTGAGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGAGGGGGAGGTAAGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGA GGGGAGAGGGAGGGTGAGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAG GGAGAGGGAGGATGAGGGTGAGGGGAGAGGAGGGCGAGGGGAGAGGGAGG GTGAGGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGTGAGG GGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGAGAGGGAGGGTGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(419): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 NA19001.hp1 NA19066.hp1 HG01981.hp1 NA19001.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0129 a0002c0002t0001g0216 a0002c0002t0003g0003 a0002c0002t0001g0129 a0002c0002t0001g0216 a0002c0002t0003g0003	3	232	0.0129	426	c.43 others(437): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTATGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATACATATA TGTATAAATATGTATGTATTTATACATATATGTATTAATACGTATTTATA CATATATGTATTAATACGTATTTATACATATATGTATAAATA		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding					4237		chrX	TogoVar

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