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
FAM117B_chr2_202629969_202774757	202767461	G G	GGAGCAGC others(345): Show GGAGCAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0109 a0002c0002t0109	a0002c0002t0109g0299 a0002c0002t0109g0299	1	318	0.0031	352	c.17 others(363): Show c.1713_*1714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCGAGCAGCTCTTTTTTT		FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	8/8				1714	INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXL18_chr7_5470797_5518809	5507833	C C	CAAAAGAA others(345): Show CAAAAGAAAATTAGCGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0210 a0001c0001t0042g0210	1	338	0.0030	352	c.19- others(367): Show c.19-2204_19-2203insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCACGCTAATTTTCTTTT		FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	1/4						chr7	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(345): Show TATATATATATATACACCACCGTGGTGTATATATAAAAATATATATATAC ACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTAT ATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATA TATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGG TGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAAT ATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCAC CGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATA AAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 NA18522.hp1 HG01884.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0316 a0001c0001t0007g0318 a0001c0001t0007g0319 a0001c0001t0007g0316 a0001c0001t0007g0318 a0001c0001t0007g0319	3	334	0.0090	352	c.-10 others(371): Show c.-10-18567_-10-18566insTACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATA		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(345): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	370	0.0027	352	c.39 others(363): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCTCTCCC		FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding					3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(345): Show GTATATACATATATATGTATGTATATTATATACATATAAATATATATGTA TATAAATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATATATTTATATACATATAATACATATACATATATACATATAAAT ATATATTTATATACATATAAATATATATATATTTATATATATTTATATAT ATACATATAAATATATATTTATATACATATAAATATATAATTATATACAT ATAAATATATATAATTATATACATATAAATATATATTTATATACATATAA ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0114 a0002c0024t0002g0114	1	292	0.0034	352	c.49 others(363): Show c.4960_*4961insAATTTATATGTATATAAATATATATTTATATGTA TATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATA AATATATATTTATATGTATATATATAAATATATATAAATATATATATATT TATATGTATATAAATATATATTTATATGTATATATGTATATGTATTATAT GTATATAAATATATATATTTATATGTATGTAAATATATATTTATATGTAT GTAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAAT ATATATATTTATATTTATATACATATATATTTATATGTATATAATATACA TACATATATATGTATATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4182		chr13	TogoVar
FLT4_chr5_180596506_180654600	180615336	T T	TGGGCCCA others(345): Show TGGGCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGC CCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGC ACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTT TCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGA GCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTG GGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCC TGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCA CTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	388	0.0026	352	c.321 others(371): Show c.3219+1030_3219+1031insCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGG AGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCG GAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGTGGGCCC		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(345): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	183	0.0055	352	c.129 others(371): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAATGTTTACCAG		FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12311724	T T	TAATTCCA others(345): Show TAATTCCACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	174	0.0058	352	c.41+ others(371): Show c.41+172726_41+172727insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAATTCCACTGTCTT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FTCD_chr21_46131779_46160579	46140811	T T	TCCCCGTC others(345): Show TCCCCGTCCACCTTCGCGTGGCTCACAGGGAGTGTAAACCAACCCAGCAC TCCTCGTCCACCTTCACATTGTTCGCAGGGAATGTAAATCAACCCAGCCC TCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAAACCAACCCAGCAC TCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCAC TCCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCCACCCAGCA CTCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCA CTCCCCGTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAACCCAGCA CTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	230	0.0044	352	c.126 others(371): Show c.1261-1889_1261-1888insGAGTGCTGGGTTGGTTTACGCTCCCT GTGAGCAATGTGAAGGCAGACGGGGAGTGCTGGATTGGTTTACACTCCCT GTGAGCCACGTGAAGGTGGACGGGGAGTGCTGGGTGGGTTTACACTCCCT GTGAGCCACGTGAAGGTGGACGGGGGAGTGCTGGATTGGTTTACACTCCC TGTGAGCCACGTGAAGGTGGACGGGGAGTGCTGGGTTGGTTTACACTCCC TCTGAGCAATGCGAAGGTGGACGGGGAGGGCTGGGTTGATTTACATTCCC TGCGAACAATGTGAAGGTGGACGAGGAGTGCTGGGTTGGTTTACACTCCC TGTGAGCCACGCGAAGGTGGACGGGG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13						chr21	TogoVar
GABRB3_chr15_26538552_26778066	26684048	T T	TAAGAGTG others(345): Show TAAGAGTGACAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0203 a0001c0001t0034g0203	1	204	0.0049	352	c.241 others(371): Show c.241-62515_241-62514insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTGCTGTCACTCTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388195	A A	AGGAAGGA others(345): Show AGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTA AGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAG GAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAA GGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAA GGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGGAAGGAAGGAAGGAAAGGA GGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGG AGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGG AGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	92	0.0109	352	c.574 others(371): Show c.574+59320_574+59321insAAAGGAAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGG AGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGG AAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGG AAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGGAAGGAAGG AAGGAAAGGAGGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAA GGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAA GGAGGGAGGGAGGGGAAGGAAGGAAG		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(345): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGG GGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAG GGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0078 a0001c0001t0015g0078	1	188	0.0053	352	c.229 others(371): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10						chr9	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(345): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCT GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	240	0.0042	352	c.310 others(371): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAACACTGG		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6						chr9	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(345): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACA TCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCC TCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCC CCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCT TCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGC TCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCT CTG	frameshift_variant frameshift_variant	HIGH	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0077 a0001c0061t0001g0077	1	396	0.0025	352	c.239 others(361): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAG AAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(345): Show TATACATATATATGTATATATATGTATGTATACATGTATATATACATATA AATATATGTATGTATACATGTATACATACATATAAATATATGTATGTATA CATGTATATATACATATAAATATATGTATGTATACATACGTATATATACA TGTATAATACATATATATTTATATGTATATATACATACGTATATATACAT GTATCATACATATAAATATATATATGTATGATACATGTATACATACGTAT AAATATATATGTATGTATACATGTATCATACATATAAATATATACATATA AATTTATATGTATATATACATGTATACATACATATATATTTATGTATATA TAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0217 a0006c0007t0010g0217	1	348	0.0029	352	c.706 others(369): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATATATACATATAAATATATGTATGTATACATGTATACATACA TATAAATATATGTATGTATACATGTATATATACATATAAATATATGTATG TATACATACGTATATATACATGTATAATACATATATATTTATATGTATAT ATACATACGTATATATACATGTATCATACATATAAATATATATATGTATG ATACATGTATACATACGTATAAATATATATGTATGTATACATGTATCATA CATATAAATATATACATATAAATTTATATGTATATATACATGTATACATA CATATATATTTATGTATATATACA		GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(345): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGCCACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0056 a0056	a0056c0091 a0056c0091	a0056c0091t0002 a0056c0091t0002	a0056c0091t0002g0209 a0056c0091t0002g0209	1	308	0.0033	352	c.341 others(367): Show c.3413-41_3413-40insCACTCCTGGGATGGGCCACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGT		GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618168	G G	GACTCCTG others(345): Show GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGCTCACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAC GAGTCGCCCCTGGGATGGGTGACTCCTGGGACGAGTCGCCCCTGAGATGG GCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0244 a0004c0004t0004g0244	1	308	0.0033	352	c.341 others(367): Show c.3413-41_3413-40insCACTCCTGGGATGGGTGACTCCTGGGACAG CTCACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGACGAGTCGCCCC TGGGATGGGTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGT		GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRK5_chr10_119202571_119464745	119287208	G G	GAGAGGAA others(345): Show GAGAGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGAGAGG AGGAAGGGAAGGAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGAAGGGAG GGAGAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGA GGGAGAGAGGGAGGGAGGAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGG GAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAAAGAGGGAAG AAAGGAAGGGAGGGAGAGAGGGAGGGAAGGAAGGAAGGGAAGAAGGAAGG GAAGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAA GAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0126 a0001c0001t0010g0126	1	202	0.0050	352	c.53- others(369): Show c.53-39303_53-39302insAAGAAAGGAAGGGAGGGAGAGAGGGAGG GAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAGGGAG GGAGGAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGAGAGGAGGAA GGGAAGGAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGAAGGGAGGGAGA GAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAG AGAAGAAAGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAAGGAAGG AAGGGAAGAAGGAAGGGAAGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAG GAAGGGAGGGAGAGAAGAAAGAGG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
HAUS1_chr18_46099385_46133333	46120525	C C	CGCCCGGC others(345): Show CGCCCGGCCTGACTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	372	0.0027	352	c.476 others(367): Show c.476+483_476+484insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCGGCCTGACTTTTTC		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HMGN1_chr21_39337315_39354088	39338422	T T	TTTTTGTT others(345): Show TTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGA GTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCTCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	352	c.46 others(363): Show c.4689_*4690insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACAAACAAAA		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					3892		chr21	TogoVar
HTR1E_chr6_86932528_87021679	87010033	G G	GGACGGGG others(345): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0209 a0001c0001t0004g0025 a0001c0001t0001g0209 a0001c0001t0004g0025	2	300	0.0067	352	c.-18 others(371): Show c.-185-5110_-185-5109insCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCTC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGG		HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TGGAATAT others(345): Show TGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATA TATACATGGAATATATGTATATGGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATATATATAGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATACATGGAATATATACATGGAACATATACATGGAATATATACATG GAACATATACATGGAATATATATATATGGAACATATACGGAATATATATA TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	352	c.-24 others(363): Show c.-2470_-2469insGGAATATATGTATATGGAATATATACATGGAATA TGTGTATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATATATATAGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATACATGGAATATATACATGGAACATATACA TGGAATATATACATGGAACATATACATGGAATATATATATATGGAACATA TACGGAATATATATATGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2383		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322645	T T	TGTATATG others(345): Show TGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGG AATATGTGTATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATAGAATATATACATGGAATATATA TATATGGAATATATACATGGAACATATACATGGAATATATACATGGAACA TATACATGGAATATATACATGGAACATATACATGGAATATATATATATGG AAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	323	0.0031	352	c.-24 others(363): Show c.-2411_-2410insGTATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATATAGAATATA TACATGGAATATATATATATGGAATATATACATGGAACATATACATGGAA TATATACATGGAACATATACATGGAATATATACATGGAACATATACATGG AATATATATATATGGAAC		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2324		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322730	T T	TATATATA others(345): Show TATATATATAATATATATACGGAATATATATATAATATATATACGGAATA TATATATAATATATATACGGAATATATATATAATATATATACGGAATATA TATATACGGAATATATATATAATATATATACGGAATATATATATACGGAA TATATATATAATATATATACGGAATATATATATACGGAATATATATATAA TATATATACGGAATATATATAAACGGAATATATATATAATATATATACGG AATATATATAAACGGAATATATATATAATATATATACGGAATATATATAT ACGGAATATATATATAATATATATACGGAATATATATATAATATATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG02559.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0105 a0001c0001t0010g0103 a0001c0001t0010g0105	2	323	0.0062	352	c.-23 others(363): Show c.-2326_-2325insATATATATAATATATATACGGAATATATATATAA TATATATACGGAATATATATATAATATATATACGGAATATATATATAATA TATATACGGAATATATATATACGGAATATATATATAATATATATACGGAA TATATATATACGGAATATATATATAATATATATACGGAATATATATATAC GGAATATATATATAATATATATACGGAATATATATAAACGGAATATATAT ATAATATATATACGGAATATATATAAACGGAATATATATATAATATATAT ACGGAATATATATATACGGAATATATATATAATATATATACGGAATATAT ATATAATATATATATATA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2239		chr21	TogoVar
IGSF10_chr3_151431203_151466061	151451238	A A	ACTTGGTG others(345): Show ACTTGGTGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0036 a0036	a0036c0049 a0036c0049	a0036c0049t0001 a0036c0049t0001	a0036c0049t0001g0196 a0036c0049t0001g0196	1	424	0.0024	352	c.716 others(369): Show c.716-1974_716-1973insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATTG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAGACACCAAG		IGSF10	ENSG00000152580.9	transcript	ENST00000282466.4	protein_coding	5/7						chr3	TogoVar
IL10RA_chr11_117981394_118006483	118003568	T T	TAAGAATA others(345): Show TAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03130.hp1 HG01081.hp2 HG03130.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0016 a0007c0011t0002g0016	2	426	0.0047	352	c.39 others(363): Show c.3927_*3928insAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA		IL10RA	ENSG00000110324.12	transcript	ENST00000227752.8	protein_coding					2086		chr11	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(345): Show TATTTAAAGATCAAAAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATT TAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAA GATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATT ATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATC AAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTC TTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp1 NA18906.hp1 HG01243.hp1 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0129	3	135	0.0222	352	c.704 others(373): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGA TCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTAT TCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAA GAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTT GATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(345): Show TATTTAAAGATCAAAAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATT TAAAGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACA GATTATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAG GATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGATT ATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAAGATC AAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTC TTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	135	0.0074	352	c.704 others(373): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAGGA TCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGATTAT TCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAA GAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTT GATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568278	T T	TTTAAAGA others(345): Show TTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAA CAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTA AAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGA TCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTAT TCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAA GAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTT GAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0058 a0001c0002t0004g0082 a0001c0001t0001g0058 a0001c0002t0004g0082	2	135	0.0148	352	c.704 others(373): Show c.704-100093_704-100092insTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAA GATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATT ATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATC AAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTC TTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGA ATAACAGATTATTCTTGAATTAAAGATCAAGAATAACAGATTATTCTTGA TTTAAAGATCAAGAATAACAGATTATTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(345): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATGTAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATACATATATTATATATCA TATATTATATATGATATATAATACATACATATATATGATATATAATACAT ACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	141	0.0071	352	c.772 others(371): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATAATATATA CATATATTATATATCATATATTATATATGATATATAATACATACATATAT ATGATATATAATACATACATATATAT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62561275	T T	TAAAATTT others(345): Show TAAAATTTGTTTCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	330	0.0030	352	c.258 others(367): Show c.2582+34_2582+35insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATTTGTTTCTTTC		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC3_chr12_61767_183455	163211	C C	CCCCTCCA others(345): Show CCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02717.hp1 others(5): Show HG02055.hp1 HG02109.hp1 HG02717.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0001 a0002c0015 others(1): Show a0001c0003 a0002c0001 a0002c0015 a0006c0012	a0001c0003t0001 a0001c0003t0005 a0002c0001t0005 others(2): Show a0001c0003t0001 a0001c0003t0005 a0002c0001t0005 a0002c0015t0013 a0006c0012t0005	a0001c0003t0001g0225 a0001c0003t0005g0193 a0002c0001t0005g0007 others(5): Show a0001c0003t0001g0225 a0001c0003t0005g0193 a0002c0001t0005g0007 a0002c0001t0005g0012 a0002c0001t0005g0054 a0002c0015t0013g0018 a0006c0012t0005g0006 a0006c0012t0005g0016	8	282	0.0284	352	c.258 others(369): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTC		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(345): Show CCATCCATCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCAT CCATCCACCCACCCACCCACCCATCCATCCACCCACCTGTCCACCCATCC ATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCAT CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCC ATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCAT GTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCC ACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0052 a0003c0004t0001g0052	1	292	0.0034	352	c.121 others(371): Show c.1210-1633_1210-1632insCCCACCCACCCATCCATCCACCCACC CACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCA CCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACC TGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACC CACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATT TATCCACCTACCCACACATCCATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(345): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18972.hp1 HG00558.hp2 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0238 a0001c0003t0001g0023 a0001c0003t0001g0238	2	326	0.0061	352	c.205 others(369): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAAAATTTTAATATTTTTT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24						chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(345): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATTCTATATATATAATATATATTATA TATATATTCTATATATATAATATATATTATATATATAATTCTATATATAT AATATATATTATATATATAATTCTATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATATAATATATATTATATATATAATT CTATATATATAATATATATTATATATATAATTCTATATATATAATATATA TTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	80	0.0125	352	c.62- others(371): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATATATATATAATATATATTATATATATAG AATATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(345): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	232	0.0043	352	c.-67 others(371): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGA		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(345): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATATATATATACATAAATATATATTTATATATATTTATA TATATACATAAATATATATTTATATATAAATATATATTTATATATTTATA TATATTTATGTATATTTATATACATAAATATATATTTATATATATTTATA TATATTTATATACATAAATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01074.hp1 others(9): Show HG00639.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp2 HG01346.hp1 HG02293.hp1 HG02886.hp2 HG03669.hp1 HG04199.hp1 HG04228.hp1 NA19062.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0007 a0001c0001t0002g0029 a0001c0001t0002g0032 others(9): Show a0001c0001t0002g0007 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0007g0119	12	136	0.0882	352	c.639 others(369): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATAAATATATATTT ATGTATATAAATATACATAAATATATATAAATATATAAATATATATTTAT ATATAAATATATATTTATGTATATATATAAATATATATAAATATATATTT ATGTATATATATATAAATATATATAAATATATAAATATATATTTATATAT AAATATATACATAAATATATATAAAAATATATATTTATATATAAATATAT TTATGTATATAAATATATATTTAT		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27						chr1	TogoVar
KIAA0930_chr22_45187244_45245894	45229067	A A	AAGATCCC others(345): Show AAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACC CCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCT CTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCA ACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAA CACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT GAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0112 a0001c0001t0116g0112	1	398	0.0025	352	c.64+ others(369): Show c.64+11572_64+11573insCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGG ATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGG GGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAGAGGGAT CTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAG TGGTTGGGGGGTGGAGAGGGATCT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33403294	C C	CACACGCA others(345): Show CACACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACA CACAGGGACACACACAGAGACCCAGGGACACACACACACAGACACACAGA CATAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACA CATGGACACACACATGCAGACACGCGGACAGACACACACAGACACAGAGA CACACACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACA CACACACATATGCAGACACACAGAAACACACAGACACACATAGACACATG CACACACACATGCAGACACACACAGACACATGCACACACATGCAGACAGA CAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02735.hp1 HG02895.hp1 HG02647.hp1 HG02735.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0033 a0001c0034 a0001c0005 a0001c0033 a0001c0034	a0001c0005t0023 a0001c0033t0033 a0001c0034t0007 a0001c0005t0023 a0001c0033t0033 a0001c0034t0007	a0001c0005t0023g0136 a0001c0033t0033g0193 a0001c0034t0007g0195 a0001c0005t0023g0136 a0001c0033t0033g0193 a0001c0034t0007g0195	3	226	0.0133	352	c.238 others(371): Show c.238+26409_238+26410insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGAGACCCAGGGACAC ACACACACAGACACACAGACATAGACATATGCAGACACACACAGACACAC ACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAG ACACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACACATATGCAGACACACAGAAACACAC AGACACACATAGACACATGCACACACACATGCAGACACACACAGACACAT GCACACACATGCAGACAGACAGACAC		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33403300	C C	CACGCAGA others(345): Show CACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACACA CAGGGACACACACAGAGACTCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGACACACAGACACAGAGACACA CACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACA CATATGCAGACACAGAAACACACAGACACACATAGACACATGCACACACA CATGCAGACACACACAGACACACGCACACACATGCAGACAGACAGACACA CGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00609.hp1 others(59): Show HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01515.hp2 HG01928.hp1 HG01981.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02258.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03225.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18985.hp2 NA18990.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19084.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0008 a0018	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0018 a0001c0029 a0001c0030 a0001c0033 a0001c0036 a0001c0063 a0001c0069 a0001c0070 a0001c0085 a0001c0086 a0001c0088 a0001c0089 a0001c0093 a0003c0047 a0005c0022 a0006c0031 a0008c0068 a0018c0066	a0001c0001t0001 a0001c0001t0011 a0001c0001t0059 others(39): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0059 a0001c0001t0063 a0001c0002t0001 a0001c0002t0032 a0001c0002t0062 a0001c0003t0001 a0001c0003t0014 a0001c0004t0006 a0001c0004t0018 a0001c0004t0027 a0001c0005t0017 a0001c0005t0026 a0001c0005t0057 a0001c0006t0005 a0001c0007t0001 a0001c0012t0001 a0001c0012t0020 a0001c0013t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0017 a0001c0029t0054 a0001c0030t0020 a0001c0030t0069 a0001c0033t0051 a0001c0036t0001 a0001c0036t0014 a0001c0063t0016 a0001c0069t0024 a0001c0070t0010 a0001c0085t0014 a0001c0086t0001 a0001c0088t0001 a0001c0089t0006 a0001c0093t0001 a0003c0047t0029 a0005c0022t0018 a0006c0031t0001 a0008c0068t0011 a0018c0066t0009	a0001c0001t0001g0027 a0001c0001t0001g0213 a0001c0001t0011g0051 others(59): Show a0001c0001t0001g0027 a0001c0001t0001g0213 a0001c0001t0011g0051 a0001c0001t0059g0042 a0001c0001t0063g0028 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0216 a0001c0002t0032g0060 a0001c0002t0032g0061 a0001c0002t0062g0222 a0001c0003t0001g0024 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0214 a0001c0003t0014g0039 a0001c0004t0006g0015 a0001c0004t0018g0220 a0001c0004t0027g0040 a0001c0004t0027g0044 a0001c0005t0017g0031 a0001c0005t0026g0035 a0001c0005t0026g0052 a0001c0005t0057g0226 a0001c0006t0005g0016 a0001c0006t0005g0032 a0001c0006t0005g0043 a0001c0006t0005g0045 a0001c0006t0005g0210 a0001c0007t0001g0019 a0001c0007t0001g0021 a0001c0007t0001g0221 a0001c0012t0001g0217 a0001c0012t0020g0062 a0001c0013t0001g0008 a0001c0016t0001g0063 a0001c0017t0001g0029 a0001c0018t0017g0209 a0001c0029t0054g0219 a0001c0030t0020g0064 a0001c0030t0069g0218 a0001c0033t0051g0047 a0001c0036t0001g0041 a0001c0036t0014g0022 a0001c0063t0016g0018 a0001c0069t0024g0225 a0001c0070t0010g0020 a0001c0085t0014g0034 a0001c0086t0001g0023 a0001c0088t0001g0037 a0001c0089t0006g0017 a0001c0093t0001g0005 a0003c0047t0029g0070 a0005c0022t0018g0215 a0006c0031t0001g0030 a0008c0068t0011g0058 a0018c0066t0009g0059	62	226	0.2743	352	c.238 others(371): Show c.238+26411_238+26412insACGCAGACACACAGACACGCAGACAC AGATACACATACAGACATACACACAGGGACACACACAGAGACTCAGGGAC ACACACACACAGACACACAGACATAGACATATGCAGACACACACAGACAC ACACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGAC AGACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACATATGCAGACACAGAAACACACAGAC ACACATAGACACATGCACACACACATGCAGACACACACAGACACACGCAC ACACATGCAGACAGACAGACACACGG		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20						chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33403301	G G	GCAGACAC others(345): Show GCAGACACACAGACACGCAGACACAGATACACATACAGACATACACACAG GGACACACACAGAGACTCAGGGACACACACACACAGACACACAGACATAG ACATATGCAGACACACACAGACACACACATGCAGACACAGACACACATGG ACACACACATGCAGACACGCGGACAGACACACAGACACAGAGACACACAC GCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACACAT ATGCAGACACACAGAAACACACAGACACACATAGACACATGCACACACAC ATGCAGACACACACAGACACACGCACACACATGCAGACAGACAGACACAC GGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0057 a0001c0092 a0001c0057 a0001c0092	a0001c0057t0031 a0001c0092t0048 a0001c0057t0031 a0001c0092t0048	a0001c0057t0031g0003 a0001c0092t0048g0200 a0001c0057t0031g0003 a0001c0092t0048g0200	2	226	0.0089	352	c.238 others(371): Show c.238+26414_238+26415insGACACACAGACACGCAGACACAGATA CACATACAGACATACACACAGGGACACACACAGAGACTCAGGGACACACA CACACAGACACACAGACATAGACATATGCAGACACACACAGACACACACA TGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAGACA CACAGACACAGAGACACACACGCAGACAGAGACACAGACATACACAGAGA CCCAGGGACACACACACACATATGCAGACACACAGAAACACACAGACACA CATAGACACATGCACACACACATGCAGACACACACAGACACACGCACACA CATGCAGACAGACAGACACACGGACA		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
LAMA5_chr20_62304065_62372312	62360491	G G	GGTGGAGG others(345): Show GGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGG TGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTG GATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGA TGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTG GGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGG TGGGTGGGTGGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATG GGTGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTGGAGGGAT AGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0051 a0051	a0051c0117 a0051c0117	a0051c0117t0001 a0051c0117t0001	a0051c0117t0001g0072 a0051c0117t0001g0072	1	186	0.0054	352	c.450 others(369): Show c.450+1908_450+1909insTCTATCCCTCCACCCACCCATCCACCCA TCTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCC CCCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCAC CCACCCACCCATCTATCCCTCCACCCACCCACCCACCCACCCATCTATCC CTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCACCCAC CCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCC ACCCACCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTAC CCACCCACCCATCTATCCCTCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360619	T T	TAGGTGGA others(345): Show TAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGG TGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTG GGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGATAGTGGGG TGGGGGGGGGTGGGATGGTGGGGGGGGGTTTGGTGGATGGTAGGGGTGGG GGGGTGGGTGGGAGTGGTGGGTGGGGGGGGGGTAGGTGTGGTGGGGGGGT GGGTGGGGTGTGTGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTG GTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0164 a0002c0012t0001g0164	1	186	0.0054	352	c.450 others(369): Show c.450+1780_450+1781insCACCACCCACCTATCCATCCACCCACCC ACCCACCCACCCACACACCCCACCCACCCCCCCACCACACCTACCCCCCC CCCACCCACCACTCCCACCCACCCCCCCACCCCTACCATCCACCAAACCC CCCCCCACCATCCCACCCCCCCCCACCCCACTATCCCTCCACCCACCCAC CCCCCCATCTATCCCTCCACCCACCCACCCACCTATCCATCCACCCACCC ACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCAC CCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCATCT ATCCCTCCACCCACCCATCCACCT		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LDAH_chr2_20679031_20828101	20738374	A A	ATATATAT others(345): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTATAT ATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0200 a0001c0001t0007g0203 a0001c0001t0003g0200 a0001c0001t0007g0203	2	258	0.0078	352	c.703 others(369): Show c.703+1596_703+1597insAATATATAGGGAGGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATA		LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6						chr2	TogoVar
LMF1_chr16_848634_975984	859035	G G	GCAGTGGT others(345): Show GCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	294	0.0034	352	c.153 others(371): Show c.1530-4330_1530-4329insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGTGACATCACTGCACACCCAT CCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAG ACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859035	G G	GCAGTGGT others(345): Show GCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	294	0.0034	352	c.153 others(371): Show c.1530-4330_1530-4329insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACCCAT CCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAG ACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(345): Show TTATATAATATATAATATATATATTATATATATAATAATATATATATAAT ATATAATTATACATAATATATAATATATAATTATAATATATAATATATAT TATATATTAATATATAATATATAAATAATAATATATAATATATAATTATA TATTTATATAATAATATATAATTATATATAATATATAAATTATATATTAT ATAATAATATATAATTATATATAATATATAATTATATATTATATAATAAC ATATAATTATATATAATATATAAAAAATATATAATATATAAATATATAAT ATATAAATATATATAATATATAATTATATATAATATATAAATATATATAA TAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	316	0.0032	352	c.622 others(367): Show c.622-625_622-624insATATATAATATATATATTATATATATAATA ATATATATATAATATATAATTATACATAATATATAATATATAATTATAAT ATATAATATATATTATATATTAATATATAATATATAAATAATAATATATA ATATATAATTATATATTTATATAATAATATATAATTATATATAATATATA AATTATATATTATATAATAATATATAATTATATATAATATATAATTATAT ATTATATAATAACATATAATTATATATAATATATAAAAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATATA TAAATATATATAATAGTATATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(345): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATATATAATATATAATTATAATATATAATATA TATTATATATTAATATATAATATATAAATAATAATATATAATATATAATT ATATATTATATAATAATATATAAGTATATATAATATATAATTATATATTA TATAATAATATATAATTATATATAATATATAATTATATATTATATAATAA CATATAATTATATATAATATATAAAAATATATAATATATAAATATATAAT ATATAAATATATATAATATATAATTATATATAATATATAAATATATATAA TAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp1 NA20752.hp1 HG00323.hp1 HG01346.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0210 a0002c0002t0002g0213 a0002c0002t0002g0214	3	316	0.0095	352	c.622 others(367): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATATATAATTATATATTATATAATAATATATAAGTATATATAATATA TAATTATATATTATATAATAATATATAATTATATATAATATATAATTATA TATTATATAATAACATATAATTATATATAATATATAAAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATATA TAAATATATATAATAGTATATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(345): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATATATAATATATAATTATAATATATAATATA TATTATATATTAATATATAATATATAAATAATAATATATAATATATAATT ATATATTATATAATAATATATAATAATATATAATATATAATTATATATTA TATAATAATATATAATTATATATAATATATAATTATATATTATATAATAA CATATAATTATATATAATATATAAAAATATATAATATATAAATATATAAT ATATAAATATATATAATATATAATTATATATAATATATAAATATATATAA TAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	316	0.0032	352	c.622 others(367): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATATATAATTATATATTATATAATAATATATAATAATATATAATATA TAATTATATATTATATAATAATATATAATTATATATAATATATAATTATA TATTATATAATAACATATAATTATATATAATATATAAAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATATA TAAATATATATAATAGTATATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(345): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATATATAATATATAATTATAATATATAATATA TATTATATATTAATATATAATATATAAATAATAATATATAATATATAATT ATATATTATATAATAATATATAATTATATATAATATATAATTATACATTA TATAATAATATATAATTATATATAATATATAATTATATATTATATAATAA CATATAATTATATATAATATATAAAAATATATAATATATAAATATATAAT ATATAAATATATATAATATATAATTATATATAATATATAAATATATATAA TAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04228.hp2 NA18973.hp2 others(2): Show HG03688.hp1 HG04228.hp2 NA18973.hp2 NA19012.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0015 a0002c0002t0002g0161 a0002c0002t0002g0162	5	316	0.0158	352	c.622 others(367): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATATATAATTATATATTATATAATAATATATAATTATATATAATATA TAATTATACATTATATAATAATATATAATTATATATAATATATAATTATA TATTATATAATAACATATAATTATATATAATATATAAAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATATA TAAATATATATAATAGTATATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar

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