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
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(375): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	382	c.-28 others(393): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1L_chr2_1784113_2336275	2295755	C C	CAGACAGA others(375): Show CAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGA CAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGA CAGACAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACA GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGA TAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGAGAGAGA GAGAGACAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGA GAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGA GAGAGATAGAGAGACAGACAGACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0005 a0001c0012t0013g0005	1	101	0.0099	382	c.-52 others(403): Show c.-520-11253_-520-11252insCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGT CTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTGTCTGT CTGTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCT CTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCT GTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCT CTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCT GTCTGTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64177660	A A	AGGGACAA others(375): Show AGGGACAAGAGGGCACCCCTCTCCAGGGGTGGGGACATGAGGGCACCCCT CTCCGGGGGCGGGGACAAGAGGGCACCCCCTCCAGGGCGGGGACAAGAGG GCACCCCTCTCCAGGGCAGGGACAAGAGGGTACCCCTCTCCAGGGGTGGG GACATGAGGGCACCCCTCTCCGGGGGCGGGGACAAGAGGGCACCCCTCTC CAGGGCAGGGACAAGAGGGCACCCCTCTCCAGGGTGGGGACAAGAGGGCA CCCCTCTCCAGGATGGGGACAAGAGGGCACCCCTCTCCAGGGCAGGGACA AGAGGGCACCCCTCTCCAGGGTGGGGACAAGAGGGCACCCCTCTCCAGGG GTGGGGACATGAGGGCACCCCTCTCCGGGGGCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0153 a0001c0001t0003g0033 a0001c0001t0002g0153 a0001c0001t0003g0033	2	211	0.0095	382	c.-98 others(401): Show c.-98-12391_-98-12390insCACCCCTCTCCAGGGGTGGGGACATG AGGGCACCCCTCTCCGGGGGCGGGGACAAGAGGGCACCCCCTCCAGGGCG GGGACAAGAGGGCACCCCTCTCCAGGGCAGGGACAAGAGGGTACCCCTCT CCAGGGGTGGGGACATGAGGGCACCCCTCTCCGGGGGCGGGGACAAGAGG GCACCCCTCTCCAGGGCAGGGACAAGAGGGCACCCCTCTCCAGGGTGGGG ACAAGAGGGCACCCCTCTCCAGGATGGGGACAAGAGGGCACCCCTCTCCA GGGCAGGGACAAGAGGGCACCCCTCTCCAGGGTGGGGACAAGAGGGCACC CCTCTCCAGGGGTGGGGACATGAGGGCACCCCTCTCCGGGGGCGGGGACA AGAGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805487	C C	CCCCCTCA others(375): Show CCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	314	0.0032	382	c.-37 others(393): Show c.-3791_-3790insCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCC TCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3705		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCTCC others(375): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCC TCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0024 a0003c0004t0024	a0003c0004t0024g0216 a0003c0004t0024g0216	1	299	0.0033	382	c.55 others(393): Show c.5595_*5596insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTC CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(375): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	311	0.0032	382	c.91+ others(395): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(375): Show GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATACACACATGTATATACATATATACATATATATACACACATGT ATATACATATATACATATATATACACACATGTATATACATATATACATAT ATATACACACATGTATATACATATATACATATATATATACACACATGTAT ATACATATATACATATATATATACACACGTATATACATATATACATATAT ATATACACACATGTATATACATATATACATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 NA19240.hp1 HG02922.hp2 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0010 a0001c0001t0015g0001 a0001c0001t0015g0010	3	59	0.0508	382	c.116 others(401): Show c.1164+8203_1164+8204insTATATATATACACACATGTATATACA TATATACATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATATACACACATGTATATACA TATATACATATATATACACACATGTATATACATATATACATATATATACA CACATGTATATACATATATACATATATATACACACATGTATATACATATA TACATATATATACACACATGTATATACATATATACATATATATATACACA CATGTATATACATATATACATATATATATACACACGTATATACATATATA CATATATATATACACACATGTATATACATATATACATATATATATACATA TATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(375): Show GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATATACACACATGTATATACATATATACATATATATATACACAC ATGTATATACATATATACATATATATACACACATGTATATACATATATAC ATATATATACACACATGTATATACATATATACATATATATACACACATGT ATATACATATATACATATATATACACACATGTATATACATATATACATAT ATATACACACATGTATATACATATATACATATATATATACACACATGTAT ATACATATATACATATATATATACACACGTATATACATATATACATATAT ATATACACACATGTATATACATATATACATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0023 a0001c0001t0042g0023	1	57	0.0175	382	c.116 others(401): Show c.1164+8203_1164+8204insTATATATATACACACATGTATATACA TATATACATATATATATACACACATGTATATACATATATACATATATATA TACACACATGTATATACATATATACATATATATACACACATGTATATACA TATATACATATATATACACACATGTATATACATATATACATATATATACA CACATGTATATACATATATACATATATATACACACATGTATATACATATA TACATATATATACACACATGTATATACATATATACATATATATATACACA CATGTATATACATATATACATATATATATACACACGTATATACATATATA CATATATATATACACACATGTATATACATATATACATATATATATACATA TATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(375): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	230	0.0043	382	c.116 others(401): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(375): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19079.hp2 HG00609.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0102 a0001c0001t0004 a0001c0001t0102	a0001c0001t0004g0249 a0001c0001t0102g0135 a0001c0001t0004g0249 a0001c0001t0102g0135	2	59	0.0339	382	c.116 others(401): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(375): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	58	0.0172	382	c.116 others(401): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATATTATCATATTATGACATATATCA TAATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(375): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	82	0.0122	382	c.-29 others(397): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAATAATAATAATAATAATAATAATAATAATAATGTACATTC AG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTTCC others(375): Show TCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTT CCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCCCTCC CTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCCTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCC TTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02300.hp1 HG00738.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0051 a0001c0001t0040 a0001c0001t0051	a0001c0001t0040g0175 a0001c0001t0051g0160 a0001c0001t0040g0175 a0001c0001t0051g0160	2	63	0.0317	382	c.773 others(397): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTC CTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCC TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCCCTCCCTT CCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCCTCCC TT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRDM15_chr21_41793225_41884344	41814018	T T	TTTATGAG others(375): Show TTTATGAGAATGGCCTTGTATTGGCATTGCGCAGGGTGCTTTAGTGTTTT ATAACAATGCTTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTCTA AGATCTTGGCCTTGTGTTAGTGATTGCGCAGGCTGCTCTAGAGTTTTATG AGAACGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGA ATGCCTTGTGTTAGTGATTGTGCAGGGTGCTCTAGTGTTTTATAAGATCT TGGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAACG ACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCT CGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	357	0.0028	382	c.239 others(401): Show c.2392+1686_2392+1687insCACACTAGAGCACCCTGCGCAATCAC TAACACGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAA CACAAGTCGTTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACAC AAGGCCAAGATCTTATAAAACACTAGAGCACCCTGCACAATCACTAACAC AAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACAAG GCGTTCTCATAAAACTCTAGAGCAGCCTGCGCAATCACTAACACAAGGCC AAGATCTTAGAAAACACTAGAGCACCCTGCGCAATCACTAACACAAAGCA TTGTTATAAAACACTAAAGCACCCTGCGCAATGCCAATACAAGGCCATTC TCATAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(375): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGG GAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGA GGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGA GGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGAGATGCAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	281	0.0036	382	c.200 others(401): Show c.200+23992_200+23993insGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCT CTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAD21L1_chr20_1221044_1260876	1259257	G G	GTTTCCTT others(375): Show GTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATACAAA CACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCT TTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTG AGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTA GGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATACA AACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCT CTTTTCTAATACAAACACATAAAGCTCTGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0062	1	342	0.0029	382	c.48 others(393): Show c.4800_*4801insTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCT CTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATT TGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTC TAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAG CTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATA TAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGG TTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTC	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3382		chr20	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(375): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGGAGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGAGGAGGGGGAGGGG GGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	30	0.0333	382	c.36 others(393): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGGGAGG GAGGAGGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGA GGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGPD3_chr2_106398406_106473413	106467171	A A	ATCGAGGC others(375): Show ATCGAGGCCGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCG CCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCG CCGCCGGGCCAGGTCGAGGCCGCCGCCTCAACAGAGCGTGCCAGGGAGCA GCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCC GGGTCGAGGCCGCCGCCTCAACAGAGGGCGCCAGGGAGCAGCGCCCGTCG GGAGCCATGACGCCTGAGCCATCGAGGCAGCCGCCGGGCCAGGTCGAGGC CGCCGCCTCAACAGAGGGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGA CGCCTGAGCCATGGAGGCCGCCGCAGGGCCAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 HG03225.hp1 HG03471.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0115 a0015c0014t0001g0116 a0015c0014t0001g0115 a0015c0014t0001g0116	2	282	0.0071	382	c.72+ others(397): Show c.72+1045_72+1046insCCTGGCCCTGCGGCGGCCTCCATGGCTCAG GCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCCCTCTGTTGAGGCG GCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCGTCATGGC TCCCGACGGGCGCTGCTCCCTGGCGCCCTCTGTTGAGGCGGCGGCCTCGA CCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTC GA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(375): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT TTATATATATATTTTTATATATATATTTATATATATATTTTTATATATAT ATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	382	c.182 others(399): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATTTAAAGATATATATTAAATTAT ATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAAT ATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATA TATTTTTAAATATATATATATTTATATATATATTTTTATATATATATTTA TATATATATTTTTATATATATATATTTATATATATATTTTTAAATATATA TATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF17_chr13_24759169_24884921	24881946	A A	ATAGATAC others(375): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATAGAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0350 a0002c0003t0001g0350	1	385	0.0026	382	c.22 others(393): Show c.2220_*2221insTAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATAGAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2026		chr13	TogoVar
RPH3AL_chr17_207389_357807	334540	A A	AGCTCCTT others(375): Show AGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCGTCCACTGTGGAG GGACAGGGACAAGGACAGGGACAAGGCAACCACCCCCAGCAAGTGCGGCT CCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCATCCACTGTGGAGGGAC AGGGACAAGGACAGGGACAAGGCAACCACCCCACCCAGTGCAGCTCCTTC TCCCCACGCCTTCCCCCAGGGCCAGCCCGTCCACTGTGGAGGGACAGGGA CAAGGACAGGGACAAGGCAACCACCCCACCCAGTGCAGCTCCTTCTCCCC ACGCCTTCCCCCAGGGCCAGCCCGTCCACTGTGGAGGGACAGGGACAAGG ACAGGGACAAGGCAACCACCCCCAGCAAGTGCG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	90	0.0111	382	c.-21 others(399): Show c.-212-607_-212-606insCGCACTTGCTGGGGGTGGTTGCCTTGTC CCTGTCCTTGTCCCTGTCCCTCCACAGTGGACGGGCTGGCCCTGGGGGAA GGCGTGGGGAGAAGGAGCTGCACTGGGTGGGGTGGTTGCCTTGTCCCTGT CCTTGTCCCTGTCCCTCCACAGTGGACGGGCTGGCCCTGGGGGAAGGCGT GGGGAGAAGGAGCTGCACTGGGTGGGGTGGTTGCCTTGTCCCTGTCCTTG TCCCTGTCCCTCCACAGTGGATGGGCTGGCCCTGGGGGAAGGCGTGGGGA GAAGGAGCCGCACTTGCTGGGGGTGGTTGCCTTGTCCCTGTCCTTGTCCC TGTCCCTCCACAGTGGACGGGCTGGCCCTGGGGGAAGGCGTGGGGAGAAG GAGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(375): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGA GGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGA AGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 NA18961.hp2 HG02451.hp1 HG02976.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077	3	4	0.7500	382	c.807 others(399): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCC CTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCTCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCT CCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUNDC3B_chr7_87623398_87837296	87626437	C C	CATATATA others(375): Show CATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATGTGTCAT ATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATAT ATGTGTCATATATATGTGTCATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	141	0.0071	382	c.-23 others(393): Show c.-2387_-2386insATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCAT ATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1960		chr7	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(375): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTT CCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01943.hp1 HG02027.hp2 others(10): Show HG01106.hp1 HG01943.hp1 HG02027.hp2 HG02129.hp2 HG02602.hp2 HG03669.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA19009.hp1 NA19009.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0049 a0001c0001t0052	a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0110 others(10): Show a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0031g0065 a0001c0001t0049g0041 a0001c0001t0052g0012	13	17	0.7647	382	c.77 others(393): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCC CCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCCCGTGT others(375): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0016 a0002c0003t0002g0016	1	259	0.0039	382	c.166 others(399): Show c.1662+441_1662+442insCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288601	T T	TCCGTCCC others(375): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	382	c.166 others(399): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	T T	TCCCCCGT others(375): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0016 a0002c0003t0002g0016	1	257	0.0039	382	c.166 others(401): Show c.1663-1025_1663-1024insCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(375): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTC ATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATT CTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18994.hp1 HG04204.hp2 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0005 a0001c0013t0034 a0001c0004t0005 a0001c0013t0034	a0001c0004t0005g0119 a0001c0013t0034g0097 a0001c0004t0005g0119 a0001c0013t0034g0097	2	158	0.0127	382	c.89- others(395): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGT AGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTA GAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAG AGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(375): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCT CCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCT CATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCAT TCTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATT CTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0001 a0002c0059t0001	a0002c0059t0001g0118 a0002c0059t0001g0118	1	157	0.0064	382	c.89- others(395): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAG AGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDHA_chr5_213320_262082	261646	A A	AGAGCATT others(375): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAG CTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAG CATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19058.hp1 NA18975.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0174 a0001c0002t0001g0175	2	220	0.0091	382	c.52 others(393): Show c.5226_*5227insGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGA GCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTC CGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4565		chr5	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(375): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0003 a0004c0017t0003	a0004c0017t0003g0146 a0004c0017t0003g0146	1	273	0.0037	382	c.113 others(401): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(375): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGCAGGGGGGAGGCGGG GGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGTCGGGGGGGCG GGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGG GGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGGAGGCGGGGGGGCGGGAGGGGGAGGGGGCGGGAGGGGAAGGAGG CGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGG GGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0204 a0001c0001t0013g0204	1	25	0.0400	382	c.914 others(401): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCCCTCCCGCCCCCCCGCCT CCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCC CGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCC CCCCTCCCGCCCCCCCGACTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCC CCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCTCCCCTC CCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCGCCTCCTCCCCCTCCCGCC CCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(375): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGG GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTCGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	13	0.1538	382	c.209 others(399): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CCCCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(375): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	46	0.0217	382	c.176 others(399): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATAATATATACTATATATATTATATACAATAT ATAATATATACTATATATATTATATACAATATATAATATATACTATATAT ATTATATATACAATATAAAATATATATAATATATATTAGATATACAATAT ATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(375): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCAC TGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG CCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	2	209	0.0096	382	c.115 others(399): Show c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCT TCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	1221825	C C	CTAGCTCT others(375): Show CTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCT CTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCC CTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCT CTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTCT GTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTCT GCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACT GTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCT GTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	167	0.0060	382	c.719 others(401): Show c.719+12596_719+12597insAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGC CTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCA GTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCT GTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCT GTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCC CTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTCT GTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGG TTTTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	ATATATAT others(375): Show ATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATA ATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	212	0.0047	382	c.12+ others(397): Show c.12+4019_12+4020insTATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT AT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPIDR_chr8_47255938_47741306	47299090	G G	GGAATGTT others(375): Show GGAATGTTAATCCATTTGTTTGTATCCTCTTTTATTTCCTTGAGCAGTGG TTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTC CTAGGTATTTCATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATG ATTTGGCTCATGATCAAGTGGGCTTCATCCCTGGGTTGCAAGGCTGGTTC AATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCATGTGT TTGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCATTGAGCAGT GGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCTCTTGTAAGTTGGAA TCCTAGGTATTTTATTCTCTTTGAAGCAATTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA20805.hp2 HG01099.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0095 a0001c0001t0001g0109	2	214	0.0093	382	c.525 others(399): Show c.525+5067_525+5068insAATCCATTTGTTTGTATCCTCTTTTATT TCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCT TGTAAGTTGGATTCCTAGGTATTTCATTCTCTTTGAAGCAATTGTGAATG GGAGTTCACTCATGATTTGGCTCATGATCAAGTGGGCTTCATCCCTGGGT TGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATA AACAGAGCATGTGTTTGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTA TTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCT CTTGTAAGTTGGAATCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAA TGTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(375): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGA GGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGT GGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGT CTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19074.hp1 HG03654.hp1 NA19074.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0001 a0002c0002t0001 a0007c0008t0001	a0002c0002t0001g0244 a0007c0008t0001g0233 a0002c0002t0001g0244 a0007c0008t0001g0233	2	207	0.0097	382	c.395 others(399): Show c.395-5738_395-5737insGTGGGAAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGG GTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGT CATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGG AGCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGAGTG others(375): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGA GGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGT GGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGT CTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04184.hp2 HG01433.hp2 HG04184.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0001 a0001c0001t0001 a0009c0015t0001	a0001c0001t0001g0245 a0009c0015t0001g0130 a0001c0001t0001g0245 a0009c0015t0001g0130	2	220	0.0091	382	c.395 others(399): Show c.395-5824_395-5823insAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGG GGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCAT GGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGC CGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(375): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACACATATATA TGTATACACACACACATATATATGTATACACACACATATATATGTATACA CACATACATATATATGTATACACACACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	96	0.0104	382	c.62+ others(397): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACACATATATATGTATACACACACACATATATATGTATACACA CACATATATATGTATACACACATACATATATATGTATACACACACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412163	T T	TTCCCCTC others(375): Show TTCCCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCT CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCC CCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCC CCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	101	0.0099	382	c.186 others(399): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCC CCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCT CCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(375): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	165	0.0061	382	c.186 others(399): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628701	A A	AGGGGGTG others(375): Show AGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGT AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGT GAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGTAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGTAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGTAGAGCTCAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0320 a0001c0007t0012g0320	1	341	0.0029	382	c.299 others(399): Show c.299-1276_299-1275insGTGAGCTCTACTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTACTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTC TACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCC GCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTACTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCATCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGT CCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCAC CCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECTA_chr11_121096243_121196490	121185949	T T	TTAATGAG others(375): Show TTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTT AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0007 a0001c0014t0006 a0001c0011t0007 a0001c0014t0006	a0001c0011t0007g0315 a0001c0014t0006g0314 a0001c0011t0007g0315 a0001c0014t0006g0314	2	317	0.0063	382	c.600 others(401): Show c.6000-1883_6000-1882insTAATGAGTAGGGAAAGCAGATGTTCA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGA GTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATG	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23			chr11	TogoVar
THAP9_chr4_82895735_82924969	82914821	T T	TCCCACCT others(375): Show TCCCACCTGTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	386	0.0026	382	c.732 others(399): Show c.732-2106_732-2105insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCTGTCAAT TTTT	THAP9	ENSG00000168152.13	transcript	ENST00000302236.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM120B_chr12_121707752_121787068	121747391	G G	GCACTGGG others(375): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	285	0.0035	382	c.189 others(397): Show c.189-934_189-933insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCTGGGGT others(375): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0246 a0002c0002t0089g0246	1	244	0.0041	382	c.189 others(397): Show c.189-334_189-333insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113816252	G G	GGGGAGAC others(375): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCT TTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGGGGAGGGAGGT GCAGTCACTGGTCAGGGACATGGTTTCTTTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0185 a0001c0001t0084g0185	1	178	0.0056	382	c.43 others(393): Show c.4354_*4355insACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAG AGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGT GTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACA CGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGG AGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGC GTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGA CACGAGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGG GGAGGGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCAGGGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4355	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS6_chr22_37060436_37114713	37097816	C C	CGGCCACT others(375): Show CGGCCACTGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGA GGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCT GTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGC GGGCCACCGTCCTGTAACGGAGGGGGAGGAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(61): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03710.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19007.hp2 NA19057.hp2 NA19074.hp1 NA19083.hp2 NA20129.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0001 a0002c0012 a0002c0014 others(10): Show a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0065 a0003c0010 a0004c0003 a0004c0011 a0004c0031 a0004c0066 a0006c0026	a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 others(12): Show a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0065t0008 a0003c0010t0001 a0004c0003t0001 a0004c0003t0002 a0004c0011t0001 a0004c0011t0002 a0004c0031t0001 a0004c0066t0001 a0006c0026t0001	a0002c0001t0001g0010 a0002c0001t0001g0026 a0002c0001t0001g0027 others(60): Show a0002c0001t0001g0010 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0087 a0002c0001t0001g0106 a0002c0001t0001g0113 a0002c0001t0001g0161 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0232 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0242 a0002c0001t0001g0285 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0012t0001g0195 a0002c0012t0001g0214 a0002c0012t0001g0257 a0002c0014t0001g0024 a0002c0016t0001g0047 a0002c0019t0001g0046 a0002c0019t0001g0048 a0002c0019t0001g0067 a0002c0019t0001g0068 a0002c0061t0001g0271 a0002c0065t0008g0221 a0003c0010t0001g0213 a0004c0003t0001g0117 a0004c0003t0001g0219 a0004c0003t0001g0220 a0004c0003t0001g0266 a0004c0003t0001g0267 a0004c0003t0001g0272 a0004c0003t0002g0314 a0004c0003t0002g0316 a0004c0003t0002g0317 a0004c0011t0001g0217 a0004c0011t0001g0218 a0004c0011t0001g0291 a0004c0011t0002g0315 a0004c0031t0001g0186 a0004c0066t0001g0086 a0006c0026t0001g0114 a0006c0026t0001g0115 a0006c0026t0001g0116	64	326	0.1963	382	c.336 others(397): Show c.336+599_336+600insCGCTCCTCCCCCTCCGTTACAGGACGGTGG CCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTG CCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACG GTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCC TCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACAGTGG CC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar

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