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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(203): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATTTATAAATATATATTTATATATATAA ATATATATATTTATAAATATATATTTATATATATAAATATATATATTTAT AAATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03540.hp1 others(2): Show HG02809.hp2 HG03041.hp1 HG03540.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0004t0003 a0002c0003t0001	a0001c0001t0005g0028 a0001c0001t0010g0027 a0001c0001t0014g0031 others(2): Show a0001c0001t0005g0028 a0001c0001t0010g0027 a0001c0001t0014g0031 a0001c0004t0003g0026 a0002c0003t0001g0070	5	80	0.0625	210	c.34+ others(227): Show c.34+75808_34+75809insAATATATATTTATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATTTATATATATAAATATATATTTATAAATATATA TTTATATATATAAATATATATTTATAAATATATATATTTATATATATAAA TATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15529621	A A	ATATATAT others(203): Show ATATATATACTATATATATTCTATATATAGAATATATATACTATATATAT TCTATATATAGAATATATATACTATATGTATTCTATATATAGAATACATA CAGTATATATATTCTATATATAGAATATATATAGAATATATATACTATAT TAATTCTATATATAGAATATATATAGAATATATATATAGAATATATATAG AATATATATTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 others(2): Show a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0002c0002t0001g0058 a0002c0002t0001g0059	5	232	0.0216	210	c.409 others(229): Show c.409+15150_409+15151insGAATATATATTCTATATATATTCTAT ATATATATTCTATATATATTCTATATATAGAATTAATATAGTATATATAT TCTATATATATTCTATATATAGAATATATATACTGTATGTATTCTATATA TAGAATACATATAGTATATATATTCTATATATAGAATATATATAGTATAT ATATTCTATATATAGAATATATATAGTATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318038	C C	CTTGCCCT others(203): Show CTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCC CTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCC CCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACA CCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	266	0.0038	210	c.-37 others(221): Show c.-3792_-3791insTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCT CCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCT CACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3675		chr5	TogoVar
ALLC_chr2_3653200_3707671	3704709	A A	AGGGGGGA others(203): Show AGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0041 a0002c0006t0001g0041	1	127	0.0079	210	c.21 others(221): Show c.2146_*2147insGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAG AAACAGGGGTGTGGAGGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTG GGGGGCGTGGGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGG GGTGTGGAGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCG TGGGGAGGAGTGTAGGGGAGGGGGAG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		2039		chr2	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGAGAG others(203): Show GGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGGGAGAGGGGGAAGGGGGGGAGAGGGGAAGGGGGAGGGGAGG GGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGG AGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGG GAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	36	0.0278	210	c.667 others(225): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCTCCCCTCCCCCTTCCCC TCTCCCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCTCTCCCCCCTCTCCCCCTCTCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKLE2_chr12_132720503_132766832	132759526	C C	CTATATGT others(203): Show CTATATGTGCTATATGATATACACGTATCATATGCCATGATATACGTATA TTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATTTTA TGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGATATA CGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAGTAT TTTATGTATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	316	0.0032	210	c.181 others(227): Show c.181+2091_181+2092insATATACATAAAATACTGATATTTTATAT AAAAATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGA TACGTGTATATCATATAGCACATATAATATACATAAAATACTGATATTTT ATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGC ATATGATACGTGTATATCATATAGCACATATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89429144	G G	GCGCTCAG others(203): Show GCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATT CTCAACTCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	219	0.0046	210	c.-14 others(231): Show c.-144-10777_-144-10776insTGAGAGTTGAGAATCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGTGAGAGTTGAGAATCCCTGCTGTGTACTAGAACGTCTGAG CGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429174	T T	TTCTCAAC others(203): Show TTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGC TCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGT TCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTAGTAC ACAGCAGGGAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	271	0.0037	210	c.-14 others(231): Show c.-144-10807_-144-10806insGTCCCTGCTGTGTACTAGAACGTC TGAGCGTGAGAGTTGAGAATCCCTGCTGTGTACTAGAACGTCTGAGCGCG AGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGA GAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCT GCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429340	G G	GACTCTCA others(203): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTC GTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGT ACACAGCAGGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	302	0.0033	210	c.-14 others(231): Show c.-144-10973_-144-10972insACCTGCTGTGTACTAGAACGTCTG AGCGTGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGACTGAGCGCGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGA GTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGC TGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(203): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG02055.hp1 others(13): Show HG00642.hp2 HG01069.hp1 HG02055.hp1 HG02647.hp1 HG02818.hp2 HG03654.hp2 HG03831.hp2 NA18945.hp1 NA18954.hp2 NA18955.hp1 NA18975.hp1 NA18982.hp2 NA19009.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0119 others(13): Show a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0259 a0001c0001t0008g0047 a0001c0001t0010g0096 a0001c0001t0010g0097	16	194	0.0825	210	c.723 others(227): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(203): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCC TTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCT TTCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	4	0.2500	210	c.252 others(231): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGGAA GAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA GGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(203): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTCCTTCCTTCCTTCCTTTCT TCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	4	0.2500	210	c.252 others(231): Show c.2526+14945_2526+14946insGGGAGGGAGGAAGAAAGGAAGGAA GGAAGGAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAA GGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO6_chr12_45211095_45437349	45248399	T T	TAAAGAAA others(203): Show TAAAGAAAATATATTTTATAATACAAAAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	231	0.0043	210	c.70+ others(227): Show c.70+32028_70+32029insTACAAAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAAATATATTTTATAA	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
APOB_chr2_20996429_21049073	21001204	T T	TTTTAATT others(203): Show TTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTA ATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTAT AAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATA TTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAAATTTTA ATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0001 a0025c0033t0001	a0025c0033t0001g0134 a0025c0033t0001g0134	1	297	0.0034	210	c.52 others(219): Show c.525_*526insTATTTTATAATTAAAATTTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAAT TAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAAT ATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		224		chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(203): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG02280.hp1 others(8): Show HG01496.hp1 HG02055.hp2 HG02280.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG06807.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0008 a0001c0003t0001g0060 a0001c0003t0001g0066 others(1): Show a0001c0003t0001g0008 a0001c0003t0001g0060 a0001c0003t0001g0066 a0002c0005t0001g0059	11	358	0.0307	210	c.-46 others(221): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCCGTG others(203): Show CCCCCGTGACCACACACTGGCAGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAACACTTCCCACCCCGTGACCACACATTTACAGTGAACAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	223	0.0045	210	c.-15 others(221): Show c.-1517_-1516insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCACTGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(203): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	223	0.0045	210	c.-15 others(221): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687179	C C	CGAGCACT others(203): Show CGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	173	0.0058	210	c.-15 others(221): Show c.-1576_-1575insACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1334		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(203): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	211	0.0047	210	c.-15 others(221): Show c.-1589_-1588insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687391	G G	GGCGAGCA others(203): Show GGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCA CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCGTGACC ACTCATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0019 a0001c0001t0018g0019	1	229	0.0044	210	c.-17 others(221): Show c.-1788_-1787insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCG CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1546		chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41896814	C C	CTCTCTCA others(203): Show CTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCCTCCTCTCTCACCT CCCCTCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCT CTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCACCTCCCCC CCTCCTCTCTCACCTACCCCCTCCTCTCACCTCCCCCCTCCTCTCTCACC TCCCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	230	0.0043	210	c.112 others(227): Show c.1121+347_1121+348insCTCCTCTCTCACCTCCCCCCCTCCTCTC TCACCTCCCCTCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCC TCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCACC TCCCCCCCTCCTCTCTCACCTACCCCCTCCTCTCACCTCCCCCCTCCTCT CTCACCTCCCCCTCTCTTCTCTCACCTCCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221360	T T	TATCTATA others(203): Show TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATATAGATATATATGTCTATATATA TCTATATATAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0005 a0007c0011t0005	a0007c0011t0005g0196 a0007c0011t0005g0196	1	255	0.0039	210	c.670 others(227): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATATAG ATATATATGTCTATATATATCTATATATAGAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(203): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATA TACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAG ATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	3	0.3333	210	c.121 others(231): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT CAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTT AGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ASMTL_chrX_1398139_1457909	1408471	A A	ACAACACT others(203): Show ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGGCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCACTTGAGCGCAGGAGGTCAAGGCTGCAGTG AACTATGATGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0101 a0001c0035t0001g0101	1	180	0.0056	210	c.164 others(229): Show c.1645+4260_1645+4261insCCATCATAGTTCACTGCAGCCTTGAC CTCCTGCGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTATTTGGGAG TACCAGCATTTGGCTGGAGGGCAGTGTTGCCATCATAGTTCACTGCAGCC TTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTATTT GGGAGTACCAGCATTTGGCTGGAGGGCAGTGTTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(203): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19043.hp2 HG01255.hp1 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0194 a0004c0005t0001g0198 a0004c0005t0001g0194 a0004c0005t0001g0198	2	348	0.0057	210	c.16+ others(225): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112873159	G G	GGTGTGAG others(203): Show GGTGTGAGGTGTGGCTTTGTCCTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGT GTGGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02809.hp2 others(9): Show HG02109.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0019 others(3): Show a0001c0002 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0045	a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 others(6): Show a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 a0001c0002t0072 a0001c0009t0075 a0001c0019t0015 a0001c0020t0070 a0001c0021t0024 a0001c0045t0014	a0001c0002t0008g0066 a0001c0002t0014g0197 a0001c0002t0014g0213 others(9): Show a0001c0002t0008g0066 a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0072g0199 a0001c0009t0075g0153 a0001c0019t0015g0147 a0001c0020t0070g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0045t0014g0254	12	245	0.0490	210	c.305 others(227): Show c.3058-394_3058-393insCTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAG CGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAACAGTGTGAGGTGTGGCTTTGTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(203): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA19085.hp2 NA18940.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	297	0.0067	210	c.36 others(221): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAAGGAGAGGGGGGATGGG GATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0031 a0008c0014t0002g0031	1	2	0.5000	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCC CCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	2	0.5000	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCTCTTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCATCCCCCTCCCCCCTCTCCTTCCCCCTCCCCCTCCC CCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0108 a0001c0004t0003g0108	1	2	0.5000	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCTCCCCTCCCCCATCCCCA TCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCT CCCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAAGGAGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	2	0.5000	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCCTCCCCCATCCCCCTCTCCTTCCCCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGGGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGA GGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	2	0.5000	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCC CCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCCCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(203): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	163	0.0061	210	c.-2- others(227): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATATAAATATATATAATATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(203): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATATTATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	163	0.0061	210	c.-2- others(227): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATAATATATAT ATATATATAAATATATATAATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517475	T T	TTTCCTGC others(203): Show TTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCCAATCAG TCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCCCATC AGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCCCTCA TCAGTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCC CAATCAGTCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0069 a0001c0001t0063 a0001c0001t0069	a0001c0001t0063g0172 a0001c0001t0069g0091 a0001c0001t0063g0172 a0001c0001t0069g0091	2	284	0.0070	210	c.410 others(227): Show c.410-3060_410-3059insGTGACTGATTGGGGGGGTCGGCCTGAAG GGGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTTGGCCTGA GGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCT GAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCGG CCTGAAGGGGGATTGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(203): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGA ACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGG CCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(10): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03130.hp2 HG03704.hp2 HG04199.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0043 a0001c0002t0066 a0001c0003t0014 a0001c0003t0032	a0001c0001t0002g0048 a0001c0001t0009g0116 a0001c0001t0009g0163 others(9): Show a0001c0001t0002g0048 a0001c0001t0009g0116 a0001c0001t0009g0163 a0001c0001t0012g0054 a0001c0001t0020g0052 a0001c0001t0022g0162 a0001c0001t0022g0237 a0001c0002t0001g0115 a0001c0002t0043g0062 a0001c0002t0066g0111 a0001c0003t0014g0010 a0001c0003t0032g0045	13	296	0.0439	210	c.410 others(227): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGGAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(203): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGA ACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTGCCCCTCAGG CCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02109.hp2 others(2): Show HG01361.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0007 a0001c0001 a0001c0008 a0003c0007	a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 others(2): Show a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0008t0050 a0003c0007t0045	a0001c0001t0038g0088 a0001c0001t0044g0090 a0001c0001t0046g0058 others(2): Show a0001c0001t0038g0088 a0001c0001t0044g0090 a0001c0001t0046g0058 a0001c0008t0050g0264 a0003c0007t0045g0077	5	288	0.0174	210	c.410 others(227): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGCAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(203): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	151	0.0066	210	c.490 others(229): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGAAGGGGAGGGGAGGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(203): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATACCCATGGGTATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	2	162	0.0123	210	c.-81 others(229): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOP1_chr8_144257045_144296438	144280973	A A	AATACCAG others(203): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGT CTTAGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTT AATACCAGGTCTTCGGCCTTTTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	377	0.0027	210	c.310 others(227): Show c.310-4670_310-4669insGAAAGTGAGAGAAGGCCGAAGACCTGGT ATTAAAGTGAGAAAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCT AAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGA GAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT ATGAAAGTGAGAGAAGGCCGAAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281303	C C	CATACCAG others(203): Show CATACCAGGTCTTCGGCCTTTTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGT CTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCACTTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	370	0.0027	210	c.310 others(227): Show c.310-5000_310-4999insTAAAGTGAGAGAAGGCCAAAGACCTGGT ATGAAAGTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCCT AAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGA GAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT ATGAAAGTGAGAAAAGGCCGAAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1076881	G G	GGGGAGGC others(203): Show GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	287	0.0035	210	c.60 others(221): Show c.6011_*6012insGGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCC ATAGACTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCA CGGAGTCCCCGTAGACTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4941		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077180	C C	CCGGGAGG others(203): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCAGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	154	0.0065	210	c.57 others(221): Show c.5712_*5713insCCACGGAGTCCCCATAGCCTCAGCCACCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCTGCAC GGAGTCCCCATAGCCTCAGCCTCCCG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4642		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077815	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	301	0.0033	210	c.50 others(221): Show c.5077_*5078insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4007		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	302	0.0033	210	c.50 others(221): Show c.5047_*5048insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CTGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	302	0.0033	210	c.50 others(221): Show c.5047_*5048insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACAGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077875	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACT CCGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	290	0.0034	210	c.50 others(221): Show c.5017_*5018insTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3947		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078085	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	298	0.0034	210	c.48 others(221): Show c.4807_*4808insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3737		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078175	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03927.hp1 HG01192.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0014 a0001c0001t0016g0021 a0001c0001t0001g0014 a0001c0001t0016g0021	2	231	0.0087	210	c.47 others(221): Show c.4717_*4718insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3647		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078410	G G	GGGGGAGG others(203): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	284	0.0035	210	c.44 others(221): Show c.4482_*4483insGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGC CTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCAC GGAGTCCCCATAGCCTCAGCCTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3412		chr1	TogoVar

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