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
STK38L_chr12_27239286_27330959	27241502	A A	ATATATTA others(413): Show ATATATTACATATATGACTCTGTATAGTTATATATTACATATATGACTCT GTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATTAC ATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGT TATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATAT ATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGT GTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATATAT GACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	372	0.0027	420	c.-28 others(431): Show c.-2842_-2841insTATATTACATATATGACTCTGTATAGTTATATAT TACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTAT AGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATAT ATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATATTA CATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTT ATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2783		chr12	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(413): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATATACGTGTGTGTATATATACACGTGTATATATATATACGT GTGTGTATATATACACGTGTATATATATATACGTGTGTGTATATATACAC GTGTATATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATATACGT GTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	87	0.0115	420	c.271 others(437): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATATACACGTGTATA TATACACACACGTATATATATATACACGTGTATATATACACACACGTATA TATATATACACGTGTATATATACACACACGTATATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACGTATATATATACA CGTGTATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYN3_chr22_32502820_33063381	32604473	C C	CCTGAGAT others(413): Show CCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATAC TCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCC CGTCTCATACTCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCT AGGCCAATCCCGTCTCATACTCATGTCTCCGCTGAGATACCCTCCCTCAC ACTCTTTTCTAGGCCAATCCCGTCTCATACTCATGTCTCCGCTGAGATAC CCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATACTCATGTCTCC GCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATAC TCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCC CGTCTCATACTCATGTCTCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02055.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0071 a0001c0001t0020 a0002c0002t0071	a0001c0001t0020g0156 a0002c0002t0071g0155 a0001c0001t0020g0156 a0002c0002t0071g0155	2	138	0.0145	420	c.712 others(437): Show c.712-7738_712-7737insCGGAGACATGAGTATGAGACGGGATTGG CCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAG ACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACA TGAGTATGAGACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTC AGCGGAGACATGAGTATGAGACGGGATTGGCCTAGAAAAGAGTGTGAGGG AGGGTATCTCAGCGGAGACATGAGTATGAGACGGGATTGGCCTAGAAAAG AGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAGACGGGATTGG CCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAG ACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTCAG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
TBCA_chr5_77686166_77781339	77756380	A A	ACACTCCC others(413): Show ACACTCCCATTGGGCTCCCGGTCACTCAAAGGCACCTTCTGGTTGGGAGG AGCACAATGACCTTTATCTTCAGAGCTGAGGAAACACAATCTCTCATTTA TCTATGAAAATGACTTTTCAGTTTCTCAGGTGAATGTGCAGACAAGCCAA TGGAGATTAATTTTGGAAGGAAAGGCAATGAAGACTTTAGAATCTTCTAA AGAATCTTGCCCGCTAGAATTAGCATCCTAAAGAACAACTTCCTAAGAGG AAAAAAAAAAAAAAACAGCTAGGACTGCTTCCTATAAATTGTCCTCAGCC ACCTTTAACTTTGTAGTTCTCATCCACCATTACACACACCAAGGTCAAAT CCTTTCACTGTACAGGGTAGTCTCTGGAACCCCCGAAAGCCAAAGAGATC AGGTAATGCAATATGGGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	352	0.0028	420	c.53+ others(437): Show c.53+19824_53+19825insCTTTCCCATATTGCATTACCTGATCTCT TTGGCTTTCGGGGGTTCCAGAGACTACCCTGTACAGTGAAAGGATTTGAC CTTGGTGTGTGTAATGGTGGATGAGAACTACAAAGTTAAAGGTGGCTGAG GACAATTTATAGGAAGCAGTCCTAGCTGTTTTTTTTTTTTTTTCCTCTTA GGAAGTTGTTCTTTAGGATGCTAATTCTAGCGGGCAAGATTCTTTAGAAG ATTCTAAAGTCTTCATTGCCTTTCCTTCCAAAATTAATCTCCATTGGCTT GTCTGCACATTCACCTGAGAAACTGAAAAGTCATTTTCATAGATAAATGA GAGATTGTGTTTCCTCAGCTCTGAAGATAAAGGTCATTGTGCTCCTCCCA ACCAGAAGGTGCCTTTGAGTGACCGGGAGCCCAATGGGAGTG	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTCTCTC others(413): Show TTTCTCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	137	0.0073	420	c.222 others(439): Show c.222+12014_222+12015insCTCTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TENM4_chr11_78647829_79446030	79139245	T T	TATATATT others(413): Show TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAACATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0067 a0001c0008t0014g0067	1	40	0.0250	420	c.-66 others(437): Show c.-66+9464_-66+9465insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139382	T T	TAAATATA others(413): Show TAAATATATAAAATATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATA AAACATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTA GAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATAT TATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATATATA AAATATATATTATATTTCTAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0094 a0001c0005t0064g0094	1	44	0.0227	420	c.-66 others(437): Show c.-66+9327_-66+9328insCTAGAAATATAATATATATTTTATATAT TTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATA TTTTATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATATAT TTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATATTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139382	T T	TAAATATA others(413): Show TAAATATATAAAATATATATTATATTTCTATAAATATATAAAATATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATA AAACATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0018 a0013c0014t0001g0018	1	44	0.0227	420	c.-66 others(437): Show c.-66+9327_-66+9328insCTAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATATAT TTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATA TTTTATATATTTATAGAAATATAATATATATTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1290152	C C	CACGTGAC others(413): Show CACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACAC CCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGC CGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGTGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACCGCGCCTCACTCACCCTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02886.hp1 others(5): Show HG02055.hp1 HG02258.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(5): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0380 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0004g0227 a0001c0001t0004g0231	8	314	0.0255	420	c.157 others(439): Show c.1573+3160_1573+3161insTCAGGGTGAGTGAGGCGCGGTCCCCG GGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTC CCTGTCACGTTCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290975	G G	GCACCTCA others(413): Show GCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCA CTCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACGCT GCACGGGACAGGGACACCCGGGGACCACGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGA CCACGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGATGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACG CTGCACGGGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTACACGT GACAGGGACACCCGGACGCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0189 a0001c0008t0002g0189	1	389	0.0026	420	c.157 others(439): Show c.1573+2337_1573+2338insTGGCGTCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCCCGTGCAGCGTGA TTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTG CCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGTGGTCCCC GGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCC CTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGTGGTCCCCGGGTGTCCCTGTCCCGTGCAGCGT GATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGG CGCCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THEG_chr19_356747_381026	376951	C C	CTCTGTGC others(413): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	221	0.0045	420	c.-98 others(429): Show c.-982_-981insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTG GGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		926		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196335064	A A	AGGGAGGG others(413): Show AGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGT GCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGG GGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAA GGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGA GGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTGGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	420	c.-2+ others(435): Show c.-2+3199_-2+3200insCTCTCCAACCCCCACCTTCTCAGGGCATCC CTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACC CCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAG CACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTC CTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCT CAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCC CTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCAC CCTCCCAGTGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCC CTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0048 a0004c0006t0002g0048	1	188	0.0053	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0172 a0001c0005t0028g0172	1	188	0.0053	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp1 NA19009.hp1 HG02559.hp1 HG03041.hp1 NA19009.hp1	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0006 a0007c0007 a0003c0003 a0004c0006 a0007c0007	a0003c0003t0001 a0004c0006t0007 a0007c0007t0002 a0003c0003t0001 a0004c0006t0007 a0007c0007t0002	a0003c0003t0001g0405 a0004c0006t0007g0041 a0007c0007t0002g0067 a0003c0003t0001g0405 a0004c0006t0007g0041 a0007c0007t0002g0067	3	190	0.0158	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0319 a0001c0001t0064g0319	1	403	0.0025	420	c.227 others(439): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0288 a0001c0001t0011g0288	1	403	0.0025	420	c.227 others(439): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0042 a0004c0006t0010g0042	1	416	0.0024	420	c.227 others(439): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	408	0.0025	420	c.227 others(439): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0088 a0003c0003t0088	a0003c0003t0088g0390 a0003c0003t0088g0390	1	413	0.0024	420	c.227 others(439): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115915	G G	GAAGGGAG others(413): Show GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0155 a0005c0004t0001g0155	1	439	0.0023	420	c.227 others(439): Show c.2277+1353_2277+1354insTGCTCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(413): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03239.hp1 HG02040.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0011 a0001c0004t0001 a0001c0002t0011 a0001c0004t0001	a0001c0002t0011g0001 a0001c0004t0001g0030 a0001c0002t0011g0001 a0001c0004t0001g0030	2	11	0.1818	420	c.129 others(441): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCTTCC others(413): Show CAGCTTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0014g0004 a0001c0002t0001g0073 a0001c0001t0014g0004 a0001c0002t0001g0073	2	11	0.1818	420	c.129 others(441): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAAGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMTC2_chr12_82681906_83139866	82900207	C C	CTGTAGGA others(413): Show CTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACAT ATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0016 a0003c0006t0003g0016	1	32	0.0313	420	c.148 others(439): Show c.1483+3595_1483+3596insCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATA TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287479	C C	CCCTCCCC others(413): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	210	0.0048	420	c.519 others(437): Show c.519+1144_519+1145insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287815	G G	GCCTCCCC others(413): Show GCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	289	0.0035	420	c.519 others(435): Show c.519+808_519+809insGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGG GAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(413): Show CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGC AGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	162	0.0062	420	c.519 others(435): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAG GCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(413): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0276 a0001c0002t0004g0276	1	337	0.0030	420	c.183 others(437): Show c.183+1443_183+1444insGCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC TGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(413): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	337	0.0030	420	c.183 others(437): Show c.183+1443_183+1444insGCAGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC TGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294809	C C	CGTGGCTC others(413): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCAT GGCTCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTC TCCTTTTCCTGCATTTCTACGAAAGCCCGGGTGGCTCACGGTGTGTCTCC TTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTT TCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0206 a0001c0001t0001g0107 a0001c0001t0001g0206	2	346	0.0058	420	c.183 others(435): Show c.183+835_183+836insCCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACA CCGTGAGCCACCCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCGTGA GCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCC ACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACG CGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCT TTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP73_chr1_3647516_3741201	3694716	G G	GCCCTGCA others(413): Show GCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCTGCAA TCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCA CCCCTCCTCCCGCAATCCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02040.hp2 others(8): Show HG00438.hp2 HG00597.hp2 HG02040.hp2 HG02132.hp2 HG02135.hp2 HG03927.hp2 NA18940.hp1 NA18947.hp1 NA18971.hp2 NA18994.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0003t0006 a0001c0001t0003 a0001c0002t0001 a0001c0003t0006	a0001c0001t0003g0314 a0001c0002t0001g0063 a0001c0002t0001g0188 others(8): Show a0001c0001t0003g0314 a0001c0002t0001g0063 a0001c0002t0001g0188 a0001c0002t0001g0275 a0001c0003t0006g0152 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0159 a0001c0003t0006g0330 a0001c0003t0006g0336 a0001c0003t0006g0337	11	345	0.0319	420	c.186 others(439): Show c.186+11538_186+11539insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694716	G G	GCCCTGCA others(413): Show GCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCTGCAA TCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCA CCCCTCCTCCCGCAATCCCAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0301 a0001c0001t0002g0302	2	336	0.0060	420	c.186 others(439): Show c.186+11538_186+11539insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(413): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCACACACCACACC CCATACACACCACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACACCCC CCCACACACCACACAAACCACACACCCCACACACCACACACACACACCAC ACCCCACACCACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	290	0.0034	420	c.35 others(439): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACACCCCCCCACACACCACACAAACCACACACCCCACAC ACCACACACACACACCACACCCCACACCACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870569	C C	CCCACACA others(413): Show CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACACCACACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	272	0.0037	420	c.35 others(439): Show c.35+21836_*35+21837insCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCN3_chr10_5359966_5379692	5370525	G G	GCGTGTGT others(413): Show GCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGT GTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGC GTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGT GTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATATGT GTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTAT ATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGT GTGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTAT GTGTGTGTATGCGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0362 a0002c0002t0005g0362	1	301	0.0033	420	c.-6- others(435): Show c.-6-3190_-6-3189insCGTGTGTATATGTGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTG TATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTG TGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTG TGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA TGTGTGTGTGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTA TATGTGTGTATATGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTATGCG TGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(413): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGGGGA GCTCGGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCGGGG GGAGCTCGGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCG GGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGGGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAG GCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTG GGATGGGGGTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0022 a0002c0004t0004g0022	1	274	0.0036	420	c.218 others(437): Show c.2182+127_2182+128insAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTTGGAGGC TGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTTGGA GGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGGGGCTGTGGGATGGGGCTCGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGAT GGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169197	T T	TCCTCTTC others(413): Show TCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTATTCCTCCCTCCCTCCCCAC ACACCACCTATTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	51	0.0196	420	c.83 others(429): Show c.834_*835insTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGA GGAATAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		746		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(413): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGAT AGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	178	0.0112	420	c.53+ others(435): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCGATAGATAGATAGATGTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(413): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	301	0.0033	420	c.53+ others(435): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	598887	G G	GCCAGGCC others(413): Show GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGG AGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGAG GGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCTCGCCTGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0043 a0001c0006t0043	a0001c0006t0043g0001 a0001c0006t0043g0001	1	76	0.0132	420	c.121 others(439): Show c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGAGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(413): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	217	0.0046	420	c.110 others(437): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(413): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	78	0.0128	420	c.-24 others(437): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AATATATA others(413): Show AATATATAATATATATGTTATATATATTATAATATATATAATATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATTAATATATATGTTATATATATTATAATA TATATAACATTAATATATATGTTATATATATTATAATATATATAACATAT ATTATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAATATATAATAT ATATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	71	0.0141	420	c.41- others(437): Show c.41-38207_41-38206insACATATAATATATATGTTATATATATTA TAATATATATAACATTAATATATATGTTATATATATTATAATATATATAA CATTAATATATATGTTATATATATTATAATATATATAACATATATTATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATAATATATATGTTATATATATTATAATATA TATAACATATAATATATATGTTATATATATTATAATATATATAACATATA ATATATATGTTATATATATTATAATATATATAATATATAATATATATGTT ATATATATTATAATATATATAATATATATGTTATATATATTATAATATAT ATAATATATAATATATATGTTATATATATTATAATATATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(413): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT ATTTATATATATATAAATATATATATATTTCTATATATATATAAAATATA TATATATTTCTATATATATATAAATATATATATATTTCAATATATATAAA TATATATATATATAAATATATATATAAATATATATTTATATATATATAAA TATATATATATAAATATATATAATATATATATATTTATATATAAATATAT ATATATTTATATATATAAATAAATATATATTTATATATATAAATAAATAT ATATTTATATATATAAATATATATATTTTTATATATATAAATATATATAT TTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	59	0.0169	420	c.532 others(435): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAATATATATTTATT TATATATATAAATATATATTTATTTATATATATAAATATATATATATTTA TATATAAATATATATATATTATATATATTTATATATATATATTTATATAT ATATAAATATATATTTATATATATATTTATATATATATATATTTATATAT ATTGAAATATATATATATTTATATATATATAGAAATATATATATATTTTA TATATATATAGAAATATATATATATTTATATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTCTATATATATAAATATATATA TTTATATATATAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(414): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0035 a0036 a0035 a0036	a0035c0060 a0036c0059 a0035c0060 a0036c0059	a0035c0060t0010 a0036c0059t0001 a0035c0060t0010 a0036c0059t0001	a0035c0060t0010g0240 a0036c0059t0001g0009 a0035c0060t0010g0240 a0036c0059t0001g0009	2	208	0.0096	421	c.278 others(440): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCC CACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCAT TTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(414): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATG GGTGGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18978.hp1 NA18981.hp2 others(4): Show NA18943.hp2 NA18978.hp1 NA18981.hp2 NA19007.hp1 NA19011.hp2 NA19079.hp2 NA19084.hp1	a0002 a0007 a0018 a0002 a0007 a0018	a0002c0014 a0007c0009 a0018c0034 a0002c0014 a0007c0009 a0018c0034	a0002c0014t0001 a0007c0009t0001 a0018c0034t0001 a0002c0014t0001 a0007c0009t0001 a0018c0034t0001	a0002c0014t0001g0331 a0007c0009t0001g0116 a0007c0009t0001g0118 others(3): Show a0002c0014t0001g0331 a0007c0009t0001g0116 a0007c0009t0001g0118 a0007c0009t0001g0119 a0007c0009t0001g0120 a0018c0034t0001g0001	7	340	0.0206	421	c.278 others(440): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACCCATT TATCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCAC CCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCA TTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTA TCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1065011	G G	GTTATGTG others(414): Show GTTATGTGAACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTACGT GAAGTGAGGGCTATACATGTTCCTCTAGACACTGCTGTTATGTGAACTGA GGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGACA CTGCTATTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGT TACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGG GCTATGCATGTTCCTCTAGACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	334	0.0030	421	c.118 others(440): Show c.1182+2065_1182+2066insTGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC ATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAATAGCAGTGTC TAGAGGAACATGTATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGA ACATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAG CCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCACTTCACGT AACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACATAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(414): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0139 a0001c0005t0002g0139	1	25	0.0400	421	c.259 others(442): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCT CCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(414): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0033 a0002c0001t0033	a0002c0001t0033g0010 a0002c0001t0033g0010	1	25	0.0400	421	c.259 others(442): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCT CCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(414): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0225 a0003c0013t0001g0225	1	25	0.0400	421	c.259 others(442): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCT CCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar

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