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
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(309): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02148.hp1 NA18967.hp2 others(2): Show HG01175.hp2 HG02148.hp1 NA18967.hp2 NA18987.hp2 NA19080.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0009 a0004c0004t0004g0009	5	418	0.0120	316	c.893 others(331): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRP2_chr2_169122109_169367534	169179812	T T	TAAAAATC others(309): Show TAAAAATCTATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp1 HG02258.hp1 others(8): Show HG02056.hp2 HG02071.hp1 HG02258.hp1 HG02572.hp1 HG03942.hp2 HG04204.hp2 NA18999.hp2 NA19009.hp2 NA19060.hp1 NA19086.hp1 NA19090.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0011 a0026	a0001c0001 a0001c0009 a0001c0069 others(5): Show a0001c0001 a0001c0009 a0001c0069 a0003c0056 a0003c0091 a0009c0020 a0011c0144 a0026c0030	a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 a0001c0069t0007 a0003c0056t0008 a0003c0091t0005 a0009c0020t0011 a0009c0020t0012 a0011c0144t0001 a0026c0030t0001	a0001c0001t0001g0104 a0001c0001t0004g0209 a0001c0009t0001g0016 others(8): Show a0001c0001t0001g0104 a0001c0001t0004g0209 a0001c0009t0001g0016 a0001c0009t0001g0215 a0001c0069t0007g0100 a0003c0056t0008g0068 a0003c0091t0005g0143 a0009c0020t0011g0070 a0009c0020t0012g0110 a0011c0144t0001g0158 a0026c0030t0001g0212	11	250	0.0440	316	c.101 others(337): Show c.10169+1635_10169+1636insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCACCGCGCCCGGCCGCAATAGATTTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	52/78			chr2	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(309): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATTATATATATAATAATATATATACAATATATAATTATAT ATAATATATATATATAATTATATATTATATATAATATATACTATTATATA TATTTATGTATTATATATAATTATATATTATATATATTTATATATTATAT ATTATATAATAATATATAATTATATATTATATATAATTATATATTATATA ATAACATATAATTATATATAATATATAAATATATAATATATAAATATATA ATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	316	0.0032	316	c.622 others(331): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATTATATATATAATAATATATATACAATATATAATTATATA TAATATATATATATAATTATATATTATATATAATATATACTATTATATAT ATTTATGTATTATATATAATTATATATTATATATATTTATATATTATATA TTATATAATAATATATAATTATATATTATATATAATTATATATTATATAA TAACATATAATTATATATAATATATAAATATATAATATATAAATATATAA TATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(309): Show TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCA CACTTACATCTACCTCCACACCCACGCTTACACCCACCCTTACATCTACC TCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0246 a0001c0002t0003g0246	1	290	0.0035	316	c.129 others(335): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(309): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACTCATGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	290	0.0035	316	c.129 others(333): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACT CATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364472	T T	TACACCCA others(309): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACGCTTACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACC CTTACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	290	0.0035	316	c.129 others(333): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACGC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(309): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0358 a0004c0006t0001g0358	1	382	0.0026	316	c.839 others(333): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LUC7L_chr16_183990_234449	186663	G G	GGAGGAAC others(309): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGGACAGCGACAC GGGGGGGACAGCGACACGGGGGGAACAGCGACACGGGGGGGACAGCGACA CGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGGACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGG GACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	350	0.0029	316	c.25 others(327): Show c.2534_*2535insTCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTC CCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2326		chr16	TogoVar
MACF1_chr1_39199695_39492138	39211990	T T	TAATAGTG others(309): Show TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01884.hp1 others(34): Show HG00639.hp2 HG01109.hp2 HG01884.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19010.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0002 a0005 a0008 others(6): Show a0002 a0005 a0008 a0018 a0031 a0033 a0034 a0038 a0050	a0002c0004 a0002c0024 a0005c0008 others(8): Show a0002c0004 a0002c0024 a0005c0008 a0005c0009 a0008c0010 a0018c0029 a0031c0052 a0033c0072 a0034c0075 a0038c0053 a0050c0051	a0002c0004t0001 a0002c0004t0011 a0002c0024t0001 others(11): Show a0002c0004t0001 a0002c0004t0011 a0002c0024t0001 a0005c0008t0001 a0005c0008t0005 a0005c0008t0007 a0005c0009t0003 a0008c0010t0003 a0018c0029t0001 a0031c0052t0001 a0033c0072t0001 a0034c0075t0001 a0038c0053t0001 a0050c0051t0001	a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 others(34): Show a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0193 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0199 a0002c0004t0001g0202 a0002c0004t0001g0204 a0002c0004t0001g0223 a0002c0004t0001g0224 a0002c0004t0011g0194 a0002c0024t0001g0198 a0002c0024t0001g0203 a0005c0008t0001g0210 a0005c0008t0005g0162 a0005c0008t0005g0163 a0005c0008t0005g0164 a0005c0008t0007g0166 a0005c0009t0003g0214 a0005c0009t0003g0215 a0005c0009t0003g0216 a0005c0009t0003g0217 a0005c0009t0003g0218 a0008c0010t0003g0213 a0008c0010t0003g0219 a0008c0010t0003g0220 a0008c0010t0003g0221 a0018c0029t0001g0165 a0018c0029t0001g0212 a0031c0052t0001g0201 a0033c0072t0001g0209 a0034c0075t0001g0211 a0038c0053t0001g0200 a0050c0051t0001g0205	37	246	0.1504	316	c.109 others(333): Show c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A1_chr6_119172205_119354761	119278078	C C	CAAGGATG others(309): Show CAAGGATGCAGTGAACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAAAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG02559.hp1 others(4): Show HG00741.hp1 HG02109.hp2 HG02559.hp1 HG02886.hp2 HG02897.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0008 a0001c0002t0023 a0001c0001t0004 a0001c0002t0008 a0001c0002t0023	a0001c0001t0004g0030 a0001c0002t0008g0023 a0001c0002t0008g0024 others(4): Show a0001c0001t0004g0030 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0023g0029	7	350	0.0200	316	c.897 others(335): Show c.897+12604_897+12605insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTTTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGTTCACTGCATCCTT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAP1B_chr5_72102475_72214565	72125880	T T	TAAGAATT others(309): Show TAAGAATTCACCCTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG02965.hp2 others(6): Show HG02622.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA21309.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0005 a0001c0020 others(2): Show a0001c0001 a0001c0005 a0001c0020 a0005c0010 a0012c0032	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0020t0007 a0005c0010t0005 a0012c0032t0033	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0005g0157 a0001c0005t0001g0307 a0001c0020t0007g0130 a0005c0010t0005g0133 a0012c0032t0033g0222	9	342	0.0263	316	c.286 others(335): Show c.286+10098_286+10099insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAGAATTCACCCTTCTG	MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP3K15_chrX_19355059_19520508	19477999	A A	AGGGGGAG others(309): Show AGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGGGGGGAGAGGGGGGAG GGAGGGAGGGGGAGGGGGGGATGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAG GGGGGAGGGGGGGAGGGGGGGGAGGGGGAGAGGGGGGAGGGGGGGAGGGG GAGAGGGGGGAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAG GGGGGGAGGGGAAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0155 a0002c0003t0009g0156 a0002c0003t0009g0155 a0002c0003t0009g0156	2	163	0.0123	316	c.525 others(333): Show c.525+8482_525+8483insCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCCCTTCCCCTCCCCCCCTCCCCCCTCC CCCCCTCCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCC CTCCCCCCTCTCCCCCTCCCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCATCCCCCCCTCCCCCTCCCTCCCTCCCCCCTCT CCCCCCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K1_chr5_56810549_56901152	56813882	G G	GTAGACTT others(309): Show GTAGACTTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0246 a0001c0006t0004g0246	1	384	0.0026	316	c.-16 others(327): Show c.-1692_-1691insTAGACTTAATTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	MAP3K1	ENSG00000095015.6	transcript	ENST00000399503.4	protein_coding		1666		chr5	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(309): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02300.hp2 HG01243.hp2 HG02257.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0002g0117 a0001c0001t0003g0161 a0001c0001t0014g0028 a0001c0001t0002g0117 a0001c0001t0003g0161 a0001c0001t0014g0028	3	180	0.0167	316	c.267 others(333): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(309): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATGCATGTGATGCATATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTG ATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATAT ATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATAT ATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0050 a0001c0002t0015g0050	1	102	0.0098	316	c.-38 others(335): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATATATG CATCACATGCATATATATATATGCATCACATGCATATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATATGCATCACAT GCATATATATATATGCATCACATGCATATATATATATGCATCACATGCAT ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATATGCATCACATGCATATATATATGCATCACATGCATATATATATAT GCATCACATGCATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBOAT1_chr6_20094684_20217469	20168889	T T	TACAAATA others(309): Show TACAAATATCATGGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02293.hp1 others(6): Show HG01884.hp2 HG02145.hp2 HG02293.hp1 HG02486.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 NA18967.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0062 a0002c0002t0019 a0003c0003t0006 a0003c0003t0027	a0001c0001t0007g0122 a0001c0001t0008g0057 a0001c0001t0008g0220 others(6): Show a0001c0001t0007g0122 a0001c0001t0008g0057 a0001c0001t0008g0220 a0001c0001t0010g0008 a0001c0001t0010g0223 a0001c0001t0062g0299 a0002c0002t0019g0318 a0003c0003t0006g0070 a0003c0003t0027g0202	9	336	0.0268	316	c.100 others(335): Show c.100-16121_100-16120insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCCGCCCATGATATTTGT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TATATGCG others(309): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	276	0.0036	316	c.-66 others(335): Show c.-66+11655_-66+11656insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MED12L_chr3_151080664_151441653	151241054	C C	CGGGGGAC others(309): Show CGGGGGACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0178 a0001c0002t0027g0178	1	280	0.0036	316	c.225 others(337): Show c.2250+47396_2250+47397insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATGGGGGACT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MFSD8_chr4_127912805_127970173	127940714	T T	TAAAGAAA others(309): Show TAAAGAAATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACAGTGAAACCCCGTCTCCTAAAAAAACACAAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0093 a0002c0002t0003g0093	1	354	0.0028	316	c.554 others(331): Show c.554-718_554-717insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTG TGTTTTTTTAGGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCATATTTCTTT	MFSD8	ENSG00000164073.11	transcript	ENST00000641686.2	protein_coding	5/11			chr4	TogoVar
MGAM_chr7_141990879_142111747	142011457	T T	TAAAAACT others(309): Show TAAAAACTTAAAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19001.hp2 NA19004.hp1 others(1): Show NA18960.hp1 NA19001.hp2 NA19004.hp1 NA19072.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0003c0006 a0001c0010 a0003c0006	a0001c0010t0001 a0003c0006t0001 a0001c0010t0001 a0003c0006t0001	a0001c0010t0001g0078 a0001c0010t0001g0079 a0003c0006t0001g0080 others(1): Show a0001c0010t0001g0078 a0001c0010t0001g0079 a0003c0006t0001g0080 a0003c0006t0001g0095	4	316	0.0127	316	c.327 others(333): Show c.327+2768_327+2769insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAAAAACTTAAAGTCTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	3/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5B_chr17_76863404_76955393	76952974	G G	GCTAATTT others(309): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01975.hp2 others(1): Show HG01168.hp1 HG01175.hp2 HG01975.hp2 HG02148.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0031 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0031 a0002c0002t0005	a0001c0001t0005g0054 a0001c0001t0013g0015 a0001c0001t0031g0220 others(1): Show a0001c0001t0005g0054 a0001c0001t0013g0015 a0001c0001t0031g0220 a0002c0002t0005g0143	4	278	0.0144	316	c.41 others(327): Show c.4136_*4137insCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding		2582		chr17	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(309): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0221 a0001c0001t0042g0221	1	402	0.0025	316	c.14+ others(331): Show c.14+2385_14+2386insTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(309): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	268	0.0037	316	c.478 others(333): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGCGAACTAGAAAGTCTTTC	MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(309): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18944.hp1 NA18952.hp2 NA18977.hp1 NA18981.hp2 NA18989.hp1 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19086.hp2 NA19091.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0005c0006t0001g0212	70	358	0.1955	316	c.112 others(331): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(309): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	358	0.0028	316	c.112 others(331): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MS4A13_chr11_60510392_60547721	60525910	T T	TAAAATAT others(309): Show TAAAATATTAGTGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp2 HG01169.hp1 others(4): Show HG00673.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0252 a0002c0002t0001g0253 others(3): Show a0002c0002t0001g0035 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0267	7	422	0.0166	316	c.306 others(331): Show c.306+601_306+602insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAATATTAGTGGGGCA	MS4A13	ENSG00000204979.8	transcript	ENST00000378186.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(309): Show TGTATATATATATGTATATATATGTATATATATATGTATATATATGTATA TATATATGTATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATGTATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTGTATATATATGTATATATATATGTATATATATA TGTGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0309 a0011c0015t0002g0309	1	410	0.0024	316	c.484 others(331): Show c.484-693_484-692insGTATATATATATACACATATATATATACAT ATATATATACATATATATACACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATACATATATATACATATATATATACATATATATATAC ATATATATATACATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATACATATATATATACATATATAT ACATATATATATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(309): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTATATAT ATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	330	0.0030	316	c.-5+ others(331): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAAATATATATAAATATATATAAAATAAGATTTTATATATATAA AATATATATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TTATATAT others(309): Show TTATATATATAAAATCTTATTTTATATATTATATATATAAAATCTTATTT TATATATTATATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATA TATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	316	c.-5+ others(331): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAATATATAAAATAAGATTTTA TATATATAATATATAAAATAAGATTTTATATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTMR12_chr5_32222007_32317939	32313934	G G	GCTAATTT others(309): Show GCTAATTTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0016 a0001c0001t0056g0016	1	364	0.0028	316	c.-10 others(327): Show c.-1097_-1096insGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAACAAAAAAAACAAAAATTAG	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding		996		chr5	TogoVar
MYO16_chr13_108624611_109213005	109023374	A A	ATATATTA others(309): Show ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATATTTATATA TTATACAGATATAAATATATATTTATATATTATACAGATATAAATATATA TTTATATATTATACAGATATAAATATATATTTATATATTATACAGATATA AATATATATTTATATATTATACAGATATAAATATATATTTATATATTATA CAGATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0044 a0005c0038t0001g0044	1	152	0.0066	316	c.279 others(335): Show c.2796+3605_2796+3606insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTTATATATTATACAGATATAAATATATATTA TATTATACAGATATAAATATATATTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(309): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCTCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG06807.hp2 HG02055.hp1 HG02886.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0009g0134 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0009g0134	3	244	0.0123	316	c.286 others(337): Show c.2864+38256_2864+38257insGGCCGGGAGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(309): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0211 a0001c0001t0036g0211	1	244	0.0041	316	c.286 others(337): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32780504	T T	TTTGGATT others(309): Show TTTGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG TTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG03471.hp2 others(4): Show HG02055.hp1 HG02895.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0003g0111 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0003g0111 a0001c0001t0009g0116 a0001c0001t0009g0121 a0001c0001t0031g0129 a0001c0001t0032g0117	7	244	0.0287	316	c.304 others(329): Show c.304+71_304+72insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAGAATCCAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	2/21			chr17	TogoVar
MYO3B_chr2_170173147_170660167	170427525	T T	TAAGAAAT others(309): Show TAAGAAATGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0079 a0001c0001t0020g0079	1	174	0.0058	316	c.265 others(337): Show c.2651-16430_2651-16429insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGTGTG	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTGG others(309): Show TTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCA CAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTTG GCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTAG GCTGCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCACCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACTT TTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02723.hp1 others(3): Show HG02280.hp1 HG02451.hp1 HG02723.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1	a0004 a0004	a0004c0008 a0004c0015 a0004c0008 a0004c0015	a0004c0008t0021 a0004c0008t0031 a0004c0015t0039 a0004c0008t0021 a0004c0008t0031 a0004c0015t0039	a0004c0008t0021g0001 a0004c0008t0021g0076 a0004c0008t0031g0075 others(2): Show a0004c0008t0021g0001 a0004c0008t0021g0076 a0004c0008t0031g0075 a0004c0008t0031g0080 a0004c0015t0039g0049	6	302	0.0199	316	c.342 others(335): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTGG others(309): Show TTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCA CAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTTG GCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTAG GCTGCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACTT TTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02647.hp2 others(20): Show HG01884.hp1 HG02109.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp1 NA18949.hp1 NA18971.hp1 NA18988.hp2 NA19082.hp2 NA19240.hp2	a0003 a0011 a0003 a0011	a0003c0005 a0003c0011 a0003c0028 others(1): Show a0003c0005 a0003c0011 a0003c0028 a0011c0016	a0003c0005t0007 a0003c0005t0019 a0003c0005t0020 others(8): Show a0003c0005t0007 a0003c0005t0019 a0003c0005t0020 a0003c0005t0028 a0003c0005t0029 a0003c0005t0036 a0003c0005t0037 a0003c0005t0038 a0003c0011t0030 a0003c0028t0029 a0011c0016t0007	a0003c0005t0007g0053 a0003c0005t0007g0054 a0003c0005t0007g0073 others(20): Show a0003c0005t0007g0053 a0003c0005t0007g0054 a0003c0005t0007g0073 a0003c0005t0007g0077 a0003c0005t0007g0078 a0003c0005t0007g0079 a0003c0005t0007g0252 a0003c0005t0019g0068 a0003c0005t0019g0071 a0003c0005t0019g0072 a0003c0005t0020g0045 a0003c0005t0020g0046 a0003c0005t0020g0058 a0003c0005t0028g0069 a0003c0005t0028g0070 a0003c0005t0029g0262 a0003c0005t0036g0056 a0003c0005t0037g0057 a0003c0005t0038g0264 a0003c0011t0030g0066 a0003c0011t0030g0067 a0003c0028t0029g0263 a0011c0016t0007g0265	23	302	0.0762	316	c.342 others(335): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTGG others(309): Show TTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCA CAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTTG GCTAATTTTTTGTATTTTTAGTAAGGACGGGGTTTCACCATGTTGGCTAG GCTTCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCACCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACTT TTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG03098.hp1 others(2): Show HG02258.hp1 HG02723.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0059 a0001c0006t0011g0258 a0001c0006t0011g0259 others(2): Show a0001c0006t0011g0059 a0001c0006t0011g0258 a0001c0006t0011g0259 a0001c0006t0011g0260 a0001c0006t0011g0261	5	302	0.0166	316	c.342 others(335): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGAAGCCTAGCCAAC ATGGTGAAACCCCGTCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
MYO5A_chr15_52302283_52533880	52356813	T T	TTTTTTGG others(309): Show TTTTTTGGACCGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCA CAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTTG GCTAATTTTTTGTATTTTTAGTAAGGATGGGGTTTCACCATGTTGGCTAG GCTGCTCTCGAACTCCTGACCTCAGGTGACCCACTTGCCTTCGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTCTTTGACTT TTGATGAGATTGAATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp2 HG01496.hp1 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0014 a0003c0005 a0003c0014	a0003c0005t0007 a0003c0014t0008 a0003c0005t0007 a0003c0014t0008	a0003c0005t0007g0061 a0003c0014t0008g0052 a0003c0005t0007g0061 a0003c0014t0008g0052	2	302	0.0066	316	c.342 others(335): Show c.3424-2800_3424-2799insTTATTCAATCTCATCAAAAGTCAAAG AAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCG AAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCGAGAGCAGCCTAGCCAAC ATGGTGAAACCCCATCCTTACTAAAAATACAAAAAATTAGCCAAGTGTGG TGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGC ACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCCAAAAA	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	25/41			chr15	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(309): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAG GAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGG AGGGAGGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0093 a0001c0010t0093	a0001c0010t0093g0025 a0001c0010t0093g0025	1	348	0.0029	316	c.887 others(333): Show c.887-6680_887-6679insGTCCCTCCCCCCTCCCTCCTCCCTCCCC CCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCC CTCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCT CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCT CCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(309): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAG GAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGGAGGGAG GAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0260 a0001c0003t0005g0260	1	348	0.0029	316	c.887 others(333): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCC CTCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCT CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCT CCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(309): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAG GGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAG GAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGGAGGGAG GAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0267 a0001c0003t0005g0267	1	348	0.0029	316	c.887 others(333): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCC CTCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCC CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCT CCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(309): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGGCAGGAGGGCGGGAGGAGGGAGGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGA GGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAA GGAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAG GAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0310 a0001c0003t0005g0310	1	348	0.0029	316	c.887 others(333): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCT CCTCCCGCCCTCCTGCCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCT CCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(309): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGA GGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGA GGAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGG GAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAG GAGGGAGGAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02145.hp1 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0023 a0003c0015 a0001c0023 a0003c0015	a0001c0023t0084 a0003c0015t0010 a0001c0023t0084 a0003c0015t0010	a0001c0023t0084g0054 a0003c0015t0010g0049 a0001c0023t0084g0054 a0003c0015t0010g0049	2	348	0.0058	316	c.887 others(333): Show c.887-6680_887-6679insGTCCCTCCTCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCT CCCTCTTCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NAXD_chr13_110610545_110644996	110628944	G G	GGCCGGGC others(309): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAACCACTGTACTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02055.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0011 a0001c0001t0020	a0001c0001t0011g0207 a0001c0001t0020g0208 a0001c0001t0011g0207 a0001c0001t0020g0208	2	392	0.0051	316	c.441 others(333): Show c.441+1397_441+1398insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAACCACTGTACTGCA	NAXD	ENSG00000213995.12	transcript	ENST00000680254.1	protein_coding	5/9			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(309): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCA CCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGC CCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCC TGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0016 a0015c0013t0002g0016	1	378	0.0027	316	c.147 others(335): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCC ACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDST4_chr4_114822763_115118620	115022378	C C	CATATGTG others(309): Show CATATGTGTTCCACGTACATGTGTTCCACGTACATGTGTTCCATATATAT GTGTTCCATATATATATGTGTTCCATATATATATGTGTTCCATATATGTG TTCCATATATACGTGTTCCATATATATATATGTTCCATATATACGTGTTC CATATATATATGTGTTCCATATATACGTGTTCCATATATATATGTGTTCC ATATATACGTGTTCCATATATATATGTGTTCCATATATACGTGTTCCATA TATATATGTGTTCCATATATACGTGTTCCATATATATATGTGTTCCATAT ATACGTGTTCCATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0099 a0001c0006t0001g0098 a0001c0003t0001g0099 a0001c0006t0001g0098	2	190	0.0105	316	c.979 others(335): Show c.979-45105_979-45104insATATATGGAACACGTATATATGGAAC ACATATATATATGGAACACGTATATATGGAACACATATATATATGGAACA CGTATATATGGAACACATATATATATGGAACACGTATATATGGAACACAT ATATATATGGAACACGTATATATGGAACACATATATATATGGAACACGTA TATATGGAACATATATATATATGGAACACGTATATATGGAACACATATAT GGAACACATATATATATGGAACACATATATATATGGAACACATATATATG GAACACATGTACGTGGAACACATGTACGTGGAACACATAT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(309): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02630.hp1 HG01884.hp1 HG01891.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0001 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0094 a0001c0001t0009g0003 a0001c0001t0016g0018 a0001c0001t0001g0094 a0001c0001t0009g0003 a0001c0001t0016g0018	3	118	0.0254	316	c.297 others(335): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAGGTTG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(309): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03139.hp2 NA20905.hp2 HG02145.hp1 HG03139.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0005t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0005t0001g0001	3	430	0.0070	316	c.29 others(327): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(309): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0162 a0002c0005t0001g0162	1	292	0.0034	316	c.171 others(335): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCTAGTCTGGCATT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar

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