Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(284): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	157	0.0064	291	c.91+ others(304): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGGTGGGG others(284): Show TGGTGGGGGTGATGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGCGTG ATGATGGGGGTGATGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGT GGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGG GCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATG GGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGG GGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0037 a0001c0005t0002g0037	1	141	0.0071	291	c.22 others(300): Show c.222_*223insCCCACCATCACCCCCACCCCCACCACCACCCCCACC ATCACCCCCATCATCACGCCCACCACCACCCCCACCATCACCCCCACCAC CACCCCCATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACCA TCACGCCCACCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACC CCCACCACCACCCCCACCATCACCCCCATCATCACGCCCACCATCACCCC CATCATCACGCCCACCATCACCCCCATCATCACGCCCACCCCCATCACCC CCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				222		chr20	TogoVar
NRROS_chr3_196634694_196667004	196634704	T T	TGGAGAAG others(284): Show TGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTAGAGAAGTGGAGGCTGGGA GAAGTGGGGTCTGGAGAAGTGGGGGCTAGAGAAGTGGAGGCTGGAGAAGT GGGGGCTGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGG GCTAGAGAAGTGGAGGCTGGAGAAGTGGGGGCTAGAGAAGTGGAGGCTGG AGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGA AGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	437	0.0023	291	c.-51 others(302): Show c.-5185_-5184insGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTAGAG AAGTGGAGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTAGAGAAGT GGAGGCTGGAGAAGTGGGGGCTGGAGAAGTGGGGGCTAGAGAAGTGGGGG CTGGGAGAAGTGGGGGCTAGAGAAGTGGAGGCTGGAGAAGTGGGGGCTAG AGAAGTGGAGGCTGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAA GTGGGGGCTGGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTG GGGGCTG		NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding					4989		chr3	TogoVar
NRXN3_chr14_78165373_79873291	79257514	A A	ATGGTGAT others(284): Show ATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGG TGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0012 a0001c0010t0001g0012	1	23	0.0435	291	c.326 others(314): Show c.3263-209702_3263-209701insATGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSUN4_chr1_46335807_46370018	46337331	T T	TAAAAATA others(284): Show TAAAAATACAAAAGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0030 a0005c0005t0010g0030	1	281	0.0036	291	c.-34 others(302): Show c.-3496_-3495insAAAAATACAAAAGAAGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding					3475		chr1	TogoVar
ONECUT3_chr19_1748506_1785988	1768889	G G	GGTGGAGG others(284): Show GGTGGAGGTGGAGGTGATGGAGGTGGAGGTGGTGGAGGTGAAGGTGGAGG AGGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGGAAGTGGAG GTGGAGGTGATGGTGGAGGTGGTGGAGGTGGAAGTGGAGGTGGAGGTGAC GGTGGAGGTGGTGGAGTTGCTGGAGGTGGAGGTGGTGGAAGTGGAGGTGG TGGAGGTGGTGGAGGTGAAGGTGGAGGTGGTGGAGGTGAAGGTGGAGGAG GTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0251 a0002c0002t0030g0251	1	368	0.0027	291	c.119 others(310): Show c.1193-6249_1193-6248insATGGAGGTGGAGGTGGTGGAGGTGAA GGTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGG AAGTGGAGGTGGAGGTGATGGTGGAGGTGGTGGAGGTGGAAGTGGAGGTG GAGGTGACGGTGGAGGTGGTGGAGTTGCTGGAGGTGGAGGTGGTGGAAGT GGAGGTGGTGGAGGTGGTGGAGGTGAAGGTGGAGGTGGTGGAGGTGAAGG TGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGGAA GTGGAGGTGGAGGTG		ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
OR10R2_chr1_158467220_158485936	158473767	C C	CCTTCTTC others(284): Show CCTTCTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCC TCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCC CTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0085 a0003c0003t0001g0085	1	248	0.0040	291	c.27+ others(306): Show c.27+1419_27+1420insTTCCTTCCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCC TCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCC CTCTCTGCTTC		OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(284): Show CTTGTAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02818.hp2 HG01934.hp1 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0005 a0002c0002t0007	a0002c0002t0005g0222 a0002c0002t0007g0302 a0002c0002t0005g0222 a0002c0002t0007g0302	2	269	0.0074	291	c.-27 others(310): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(284): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp1 HG03654.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0300 a0002c0002t0004g0301 a0002c0002t0004g0300 a0002c0002t0004g0301	2	269	0.0074	291	c.-27 others(310): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATACTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(284): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0303 a0002c0002t0004g0303	1	268	0.0037	291	c.-27 others(310): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
PAK5_chr20_9532370_9844076	9660319	T T	TAAGATTA others(284): Show TAAGATTATTTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG00741.hp2 others(11): Show HG00140.hp1 HG00673.hp1 HG00741.hp2 HG01081.hp2 HG01433.hp1 HG02040.hp2 HG02735.hp1 HG02970.hp2 HG03209.hp1 NA18943.hp1 NA18946.hp1 NA18988.hp1 NA18993.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0002c0001 a0003c0003	a0001c0002t0002 a0001c0004t0004 a0001c0006t0002 others(4): Show a0001c0002t0002 a0001c0004t0004 a0001c0006t0002 a0001c0006t0003 a0002c0001t0001 a0002c0001t0005 a0003c0003t0003	a0001c0002t0002g0182 a0001c0004t0004g0066 a0001c0006t0002g0028 others(11): Show a0001c0002t0002g0182 a0001c0004t0004g0066 a0001c0006t0002g0028 a0001c0006t0003g0170 a0002c0001t0001g0015 a0002c0001t0001g0018 a0002c0001t0001g0031 a0002c0001t0001g0076 a0002c0001t0001g0082 a0002c0001t0001g0091 a0002c0001t0001g0124 a0002c0001t0001g0190 a0002c0001t0005g0166 a0003c0003t0003g0063	14	184	0.0761	291	c.-11 others(310): Show c.-11-15981_-11-15980insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTAAAATAATCTT		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9						chr20	TogoVar
PAM_chr5_102750305_103034716	103007757	A A	ATATATTT others(284): Show ATATATTTCACATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	185	0.0054	291	c.221 others(308): Show c.2215+115_2215+116insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTA TATTTCACATCTT		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	20/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(284): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0270 a0001c0001t0005g0270	1	91	0.0110	291	c.36 others(302): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCTC CCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCC CACCCTT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3214		chr5	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(284): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTT GGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATAAA TTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGGATAA ATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	5	0.2000	291	c.161 others(308): Show c.1614+379_1614+380insATGGGTGGGTGGGCCATGGTAGTTGGAT GGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTT GGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PEX5_chr12_7184686_7216459	7196620	T T	TAATGTAA others(284): Show TAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCA CATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATAT GTCACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTAT ATATGTCACATAATGTAATAATTATATATGTCACATATAATGTAATAATT ATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAAT AATTATATATGTCACATATAATGTAATAATTATATATGTCAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20300.hp1 HG01952.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	2	426	0.0047	291	c.449 others(308): Show c.449-2230_449-2229insATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACAT ATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTC ACAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTC ACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATA TGTCACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTA TATATGTCACATA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18598681	C C	CAAAAGAA others(284): Show CAAAAGAAACTACCATCAGACACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTC CCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCG GAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCGACA GAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18948.hp1 HG02080.hp1 NA18948.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0031 a0003c0003t0001g0020 a0003c0003t0001g0031	2	143	0.0140	291	c.408 others(310): Show c.4087+4131_4087+4132insCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGT AGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGA GGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGC GACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAACTACCATCAGA		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	30/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18598681	C C	CAAAAGAA others(284): Show CAAAAGAAACTACCATCAGACACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTC CCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCG GAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACA GAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01069.hp1 others(20): Show HG00280.hp1 HG00735.hp1 HG01069.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp1 HG02109.hp1 HG02300.hp1 HG02602.hp2 HG02717.hp2 HG02922.hp2 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18954.hp1 NA18964.hp1 NA18977.hp2 NA18990.hp2 NA19084.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0008 others(8): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0005 a0002c0024 a0003c0003 a0003c0035 a0004c0015 a0005c0050 a0006c0007	a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 others(10): Show a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 a0002c0002t0003 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0024t0001 a0003c0003t0001 a0003c0035t0002 a0004c0015t0001 a0005c0050t0001 a0006c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0158 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0004t0001g0082 a0001c0008t0001g0074 a0002c0002t0003g0133 a0002c0005t0001g0103 a0002c0005t0001g0114 a0002c0005t0002g0050 a0002c0005t0004g0118 a0002c0024t0001g0128 a0003c0003t0001g0032 a0003c0003t0001g0037 a0003c0003t0001g0065 a0003c0003t0001g0163 a0003c0035t0002g0165 a0004c0015t0001g0010 a0004c0015t0001g0069 a0005c0050t0001g0045 a0006c0007t0001g0002 a0006c0007t0001g0006 a0006c0007t0001g0007	23	164	0.1402	291	c.408 others(310): Show c.4087+4131_4087+4132insCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGT AGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGA GGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAACTACCATCAGA		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	30/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(284): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0088 a0001c0006t0001g0088	1	342	0.0029	291	c.472 others(310): Show c.472-16043_472-16042insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCA CACCACAGTTTCTTT		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6						chr8	TogoVar
PLCB1_chr20_8127266_8889900	8661960	T T	TAATTATT others(284): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATATACAATTATTTATTATATAAT TATATATAATATACAATTATTTATTATATAATTATATATAATATACAATT ATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTATA TATAATATACAATTATTTATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0095 a0001c0009t0002g0095	1	86	0.0116	291	c.862 others(308): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATATACAATTATTT ATTATATAATTATATATAATATACAATTATTTATTATATAATTATATATA ATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATTA TATAATTATATATAATATACAATTATTTATTATATAATTATATATAATAT ACAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATAT AATTATATATAAT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8661993	T T	TAATTATT others(284): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATATACAATTATTTATTATATAAT TATATATAATATACAATTATTTATTATATAATTATATATAATATACAATT ATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTATA TATAATATACAATTATTTATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	98	0.0102	291	c.862 others(308): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATATACAATTATTTATTATATAATTATATAT AATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATT ATATAATTATATATAATATACAATTATTTATTATATAATTATATATAATA TACAATTATTTATTATATAATTATATATAATATACAATTATTTATTATAT AATTATATATAAT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG1_chr6_150594885_150848665	150706458	T T	TAGCTCAC others(284): Show TAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTC GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01071.hp2 others(7): Show HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01952.hp2 HG03831.hp1 NA18963.hp2 NA19000.hp2 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0002t0006 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0002t0006 a0001c0003t0001 a0001c0005t0001 a0001c0007t0003 a0001c0008t0003	a0001c0002t0006g0044 a0001c0003t0001g0096 a0001c0005t0001g0095 others(7): Show a0001c0002t0006g0044 a0001c0003t0001g0096 a0001c0005t0001g0095 a0001c0007t0003g0026 a0001c0007t0003g0027 a0001c0007t0003g0099 a0001c0007t0003g0129 a0001c0008t0003g0038 a0001c0008t0003g0039 a0001c0008t0003g0152	10	251	0.0398	291	c.-98 others(310): Show c.-98-27125_-98-27124insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(284): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TATTATATTATATATAATATATTATATATAATATATTATATATAATATAT TATATATATTATATATAATATATTATATATATTATATTATATATAATATA TTATATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	31	0.0323	291	c.-50 others(302): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATAATATATATAATATATTATATATAATATATTATATATAATATAATA TATATAAATATATTTTTATATATAATAATTATATTATATATAATATATTT TTATATAAATATATATTATATATTTTTATATAAATATATATTATATATTA TATATAA		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4623		chrX	TogoVar
PPP2R2C_chr4_6315581_6477614	6462482	A A	AAAAATAA others(284): Show AAAAATAAAATACCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATGGCGTGGGCCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp2 NA18906.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0043 a0001c0001t0016 a0001c0002t0043	a0001c0001t0016g0245 a0001c0001t0016g0247 a0001c0002t0043g0244 a0001c0001t0016g0245 a0001c0001t0016g0247 a0001c0002t0043g0244	3	296	0.0101	291	c.70+ others(306): Show c.70+9677_70+9678insATTTTATTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGCCCACGCCATTCTCCTGCCTCAGCCTCCCAAG CAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGG TATTTTATTTT		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8						chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(284): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp2 HG02622.hp2 others(9): Show HG00733.hp2 HG02258.hp2 HG02622.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0105 a0001c0001t0004g0106 others(8): Show a0001c0001t0004g0002 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189	12	316	0.0380	291	c.50- others(306): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AGACAAGTACA		PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKACB_chr1_84139271_84243498	84192440	T T	TAAAAACA others(284): Show TAAAAACAAAACAGCATACTTTGGGAGGCCGAGGCGGGTGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0282 a0001c0001t0012g0282	1	318	0.0031	291	c.561 others(308): Show c.561-4160_561-4159insACTTTGGGAGGCCGAGGCGGGTGGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AACAAAACAGCAT		PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106488	A A	ACGTGTCA others(284): Show ACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGG ACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	209	0.0048	291	c.335 others(310): Show c.335-28737_335-28736insCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCC GGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGCGACTCTCAGCAA GCCCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACT CTCAGCAAGCCCCTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106488	A A	ACGTGTCG others(284): Show ACGTGTCGCCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGG ACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	209	0.0048	291	c.335 others(310): Show c.335-28768_335-28767insGCCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCT CAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGG ACCTCCATGCGTGTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106518	A A	AGCCCCTC others(284): Show AGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGAC TCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC ACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGA GGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	279	0.0036	291	c.335 others(310): Show c.335-28737_335-28736insCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCC ATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTG GTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTC TTCAGCAGGCCCCTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121667	C C	CACGGTGG others(284): Show CACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCG TGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGT TAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTG GTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTA GGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02027.hp2 HG02080.hp2 others(5): Show HG01978.hp2 HG02027.hp2 HG02080.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0002t0001g0220	8	275	0.0291	291	c.335 others(310): Show c.335-13595_335-13594insACGGTGGTGGTTAGGGTCGTGGTGGT AGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAG GGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAG TTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGG TCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTT ATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTC ACGGTGGTGGTTAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(284): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	73	0.0137	291	c.23 others(302): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2117		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392555	G G	GTGGTAAT others(284): Show GTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTAA TGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTG GTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGT GGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0173 a0001c0014t0001g0173	1	372	0.0027	291	c.-46 others(302): Show c.-4672_-4671insTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGA TGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGATGA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4644		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(284): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA19057.hp1 NA18612.hp1 NA19057.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0181 a0003c0004t0001g0052 a0002c0002t0001g0181 a0003c0004t0001g0052	2	317	0.0063	291	c.-46 others(302): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGAT GATGGTG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4639		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(284): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTGGTGG TGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	199	0.0050	291	c.-46 others(302): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4635		chr10	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(284): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03704.hp2 NA19072.hp1 HG01361.hp2 HG03704.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0042 a0001c0001t0003g0074 a0001c0001t0011g0055 a0001c0001t0001g0042 a0001c0001t0003g0074 a0001c0001t0011g0055	3	325	0.0092	291	c.137 others(308): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGAG GTGTGTTCTTTCT		RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(284): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	30	0.0333	291	c.36 others(302): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGA GGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGG GGAGGAG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348443	A A	AAAAGGAA others(284): Show AAAAGGAAAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	250	0.0040	291	c.132 others(308): Show c.132+2904_132+2905insCTTTCCTTTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCC TCTCCTTTCCTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RNF17_chr13_24759169_24884921	24881859	G G	GATATATA others(284): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAATCTATATAGATATATAATCTATATAGATATATAATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	410	0.0024	291	c.21 others(302): Show c.2133_*2134insATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAATCTATATAGATATATAATCTATATAGATATAT AATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1939		chr13	TogoVar
RP1L1_chr8_10601349_10660143	10610089	G G	GCACCCTC others(284): Show GCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTG CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCA CCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACC CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp2 HG02572.hp2	a0090 a0090	a0090c0181 a0090c0181	a0090c0181t0009 a0090c0181t0009	a0090c0181t0009g0365 a0090c0181t0009g0365	1	412	0.0024	291	c.400 others(300): Show c.4008_4009insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAG AGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGA GGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGA GGGTG	p.Val others(306): Show p.Val1336_Gln1337insGluLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuG lnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnG luGluArgVal	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4273/8014	4008/7203	1336/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(284): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCT AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAA CTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACT GCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp1 HG00438.hp1	a0054 a0054	a0054c0117 a0054c0117	a0054c0117t0002 a0054c0117t0002	a0054c0117t0002g0197 a0054c0117t0002g0197	1	277	0.0036	291	c.397 others(300): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAG TTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT AGAGG	p.Glu others(306): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyV alGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RTN1_chr14_59590983_59875776	59750424	A A	ATATATCT others(284): Show ATATATCTATAATATATAATATATCTATAATATATATATCTATAATATAT AATATATCTATAATATATATTATATCTATAATATATATAATATATCTATA ATATATATAATATATCTATAATATATATATCTATAATATATATAATATAT CTATAATATATAATATATCTATAATATATATATTATATCTATAATATATA ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATATCTATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	168	0.0060	291	c.242 others(308): Show c.242-3944_242-3943insATATATATATTATAGATATATATTATAG ATATAATATATATATTATAGATATATTATATATTATAGATATAATATATA TATTATAGATATATTATATATTATAGATATAATATATATATTATAGATAT ATTATATATTATAGATATATTATATATATTATAGATATATATATTATAGA TATATTATATATATTATAGATATATTATATATATTATAGATATAATATAT ATTATAGATATATTATATATTATAGATATATATATTATAGATATATTATA TATTATAGATATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATATA others(284): Show AATATATATAATATATATTATATATTATATATAATATAATTATATAATAT ATATTATATATAATATATATTATATATAATATATATTTATATAATTATAT TATATATAATATATAATATATATATTATATAATATATATTATATATTATA TATAATATATATTATATATAATATAAATATATATTATATATTATATATAA TATATATTATATATAATATAAATATATATTATATAATTATATTATATATA ATATATAATATATATTATATATATTATATATTATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02280.hp1 others(1): Show HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0004g0083 others(1): Show a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0004g0083 a0001c0001t0006g0116	4	162	0.0247	291	c.193 others(310): Show c.193-29556_193-29555insATTTTTATATAATATATAATATATAT AATATATATTATATATTATATATAATATAATTATATAATATATATTTATA TTATATATAATATATATTATATATAATATATAATATATATTTATATTATA TATAATATATATTATATATAATATATAATATATATTATATAATATATATA TTATATATTATATATAATATAATTATATAAATATATATTATATATAATAT ATATTATATATAATATATATTATATAATTATATTATATATAATATATAAT ATATATTATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATATA others(284): Show AATATATATAATATATATTATATATTATATATAATATAATTATATAATAT ATATTATATATAATATATATTATATATAATATATATTTATATAATTATAT TATATATAATATATAATATATATTATATATAATATATATTATATATTATA TATAATATATATTATATATAATATAAATATATATTATATATTATATATAA TATATATTATATATAATATAAATATATATTATATAATTATATTATATATA ATATATAATATATATTATATATATTATATATTATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02155.hp1 HG03490.hp1 others(12): Show HG00597.hp2 HG02155.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04228.hp2 NA18964.hp2 NA18977.hp2 NA19011.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0013 a0001c0001t0002 a0001c0002t0001 a0001c0002t0013	a0001c0001t0002g0031 a0001c0001t0002g0063 a0001c0001t0002g0110 others(12): Show a0001c0001t0002g0031 a0001c0001t0002g0063 a0001c0001t0002g0110 a0001c0002t0001g0057 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0118 a0001c0002t0001g0140 a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0013g0004	15	173	0.0867	291	c.193 others(310): Show c.193-29556_193-29555insATTTTTATATAATATATAATATATAT AATATATATTATATATTATATATAATATAATTATATAATATATATTTATA TTATATATAATATATATTATATATAATATATAATATATATTTATATTATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA TTATATATTATATATAATATAATTATATAAATATATATTATATATAATAT ATATTATATATAATATATATTATATAATTATATTATATATAATATATAAT ATATATTATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(284): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGGAAAGGAAGGGA AGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAGGGAAAGGAAGGGAAGGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAGGGAAAGGAAGGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0116 a0001c0001t0061g0116	1	50	0.0200	291	c.125 others(310): Show c.125-15285_125-15284insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCC TTCCTTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCTTTCCCTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCCTTCCCTTCCTTTCCCTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22						chr5	TogoVar
SERAC1_chr6_158104519_158173262	158169637	A A	ATATATAA others(284): Show ATATATAATATATTGTATATTACATATATTGTATATTATATAATATATTG TATATTATATAATATATTGTATATTATATAATATATAGTATATTATATAA TATATAGTATATTGTATATTATATAGTATATTGTATATTATATATAATAT ATTGTATATTATATATAATATATTGTATATTGTATATAATATATTGTATA TTGTATATAATATATTGTATATTGTATATAATATATTGTATATTGTATAT AATATATTGTATATTATATATAATATATTGTATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0177 a0004c0004t0006g0177	1	341	0.0029	291	c.-15 others(302): Show c.-1500_-1499insATATATAATATACAATATATTATATATAATATAC AATATATTATATACAATATACAATATATTATATACAATATACAATATATT ATATACAATATACAATATATTATATACAATATACAATATATTATATATAA TATACAATATATTATATATAATATACAATATACTATATAATATACAATAT ACTATATATTATATAATATACTATATATTATATAATATACAATATATTAT ATAATATACAATATATTATATAATATACAATATATGTAATATACAATATA TTATATA		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding					1376		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(284): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAA TATATAATATATTGTATATTATATATAATATATTGTATATTATATATTAT ATAATATATTGTATATTATATATTATATAATATATTGTATATTATATATT ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA ATATATTGTATATTATATATTATATAATATATTGTATATTATATATTATA TAATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	282	0.0035	291	c.-15 others(302): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATACAATATATTATATAATATATAATATACAATA TATTATATAATATATAATATACAATATATTATATAATATATAATATACAA TATATTATATAATATATAATATACAATATATTATATATAATATACAATAT ATTATATATTACAATATACAATATATTATATAATATACAATATATTATAT AATATAC		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding					1419		chr6	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(284): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	76	0.0132	291	c.691 others(310): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	656306	C C	CTGGCTCA others(284): Show CTGGCTCATGCCTGTAATCCCGGTACTCTGGGAGGCTGAGGTGGAATTGC CTGAGCCCAGGAGTTCAAGACCAGCCTCGGCAACAAAGTGAGACCCTGTC TCTCCAAAAAATAAAACATTTAGCCAGCTGTGTTGACTCATGCCTGTAAT CCCAGTACTCTGGGAGGCTGAGGCAGAATGGCTTGAGCCCAGGAGTTTGA GACTAGCCTCATCAACAAAGTGACACATTTTGTGTCTACAAAATAAATAA GTAAATAAATAAATAAAAATACATAAAATTAGCCAGGTATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02109.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0043 a0001c0001t0009 a0001c0001t0043	a0001c0001t0009g0144 a0001c0001t0043g0119 a0001c0001t0009g0144 a0001c0001t0043g0119	2	209	0.0096	291	c.11 others(304): Show c.11670_*11671insTGGCTCATGCCTGTAATCCCGGTACTCTGGGA GGCTGAGGTGGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCCTCGGCAA CAAAGTGAGACCCTGTCTCTCCAAAAAATAAAACATTTAGCCAGCTGTGT TGACTCATGCCTGTAATCCCAGTACTCTGGGAGGCTGAGGCAGAATGGCT TGAGCCCAGGAGTTTGAGACTAGCCTCATCAACAAAGTGACACATTTTGT GTCTACAAAATAAATAAGTAAATAAATAAATAAAAATACATAAAATTAGC CAGGTATGG		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					4723		chrX	TogoVar
SIGIRR_chr11_400716_419999	410619	C C	CGGGGGGG others(284): Show CGGGGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGCCGGG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCAGGGAGGGGGTTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATG CAGTTGGGGTGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCG GGGGGCTTTGCTTAGCTCTGACCATGTCTGGATGCAGTCGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	83	0.0120	291	c.-15 others(308): Show c.-153-593_-153-592insCCCGACTGCATCCAGACATGGTCAGAGC TAAGCAAAGCCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCACCCCAACTGCATCCAGACATGTTCAGAGCTGGGCACCCCCCCCCG ACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGAC ATGGTCAGAGCTGGGCAACCCCCTCCCTGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCCCCCGGCTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCCCCCCCCCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	411513	G G	GGGGGTGC others(284): Show GGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGGGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAG CTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTC TGGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGC AGTCGGGGAGGGGGGGTGCCCAGCTCTGACCATGTCTGGACACAGTCGGG GGGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	240	0.0042	291	c.-15 others(310): Show c.-153-1487_-153-1486insGACTGTATCCAGACATGTTCAGAGCT GGGCACCCCCCCCCCCCCCGACTGTGTCCAGACATGGTCAGAGCTGGGCA CCCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCC CGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGACTGCAT CCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCAGACAT GGTCAGAGCTGGGCACCCCCCCCCCCCCCCGACTGCATTCAGACATGGTC AGAGCTGGGCACCCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIK3_chr11_116838402_117103428	116947146	A A	ATATATAA others(284): Show ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATAT ATAATATATAATATATAATATATAATATATAATATATAAATTATTATTTA TATATAATATATAATATATAATATATAAATTATTATTTATATATAATATA TAATATATAATATATAAATTATTATTTATATATAATATATAATATATAAA TTATTATTTATATATAATATATAATATATAAATTATTATTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18522.hp2 HG02896.hp1 HG02897.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059	3	364	0.0082	291	c.454 others(308): Show c.454+6897_454+6898insAAAATAATAATTTATATATTATATATTA TATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTA TATATTATATATTATATATTATATATAAATAATAATTTATATATTATATA TTATATATTATATATAAATAATAATTTATATATTATATATTATATATTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATA		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24						chr11	TogoVar

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